@article {pmid35976711, year = {2022}, author = {Rushton, AR}, title = {Cambridge geneticists and the chromosome theory of inheritance: William Bateson, Leonard Doncaster and Reginald Punnett 1879-1940.}, journal = {Annals of science}, volume = {79}, number = {4}, pages = {468-496}, doi = {10.1080/00033790.2022.2113141}, pmid = {35976711}, issn = {1464-505X}, mesh = {Animals ; Chromosomes/genetics ; England ; *Heredity ; History, 19th Century ; History, 20th Century ; Humans ; *Physicians ; }, abstract = {Early in the 20th century Bateson, Doncaster and Punnett formed a cooperative collective to share research findings on the chromosome theory of heredity (CTH). They cross-bred plants and animals to correlate behaviour of chromosomes and heredity of individual traits. Doncaster was the most enthusiastic proponent of the new theory and worked for years to convince Bateson and Punnett on its relevance to their own research. The two younger biologists collaborated with Bateson, the preeminent geneticist in England. As their own reputations developed, their research findings allied with the consensus on the importance of the CTH by the broader scientific community. After Doncaster's tragic death in 1920, major objections to the theory had been resolved; Bateson and Punnett then utilized the CTH to construct chromosome maps detailing locations of specific genes on particular chromosomes in several different species. The marriage of heredity and cytology enhanced confidence that the theory was an accurate mechanism to explain inheritance in both plants and animals.}, } @article {pmid36138232, year = {2022}, author = {Yang, T and Liu, R and Luo, Y and Hu, S and Wang, D and Wang, C and Pandey, MK and Ge, S and Xu, Q and Li, N and Li, G and Huang, Y and Saxena, RK and Ji, Y and Li, M and Yan, X and He, Y and Liu, Y and Wang, X and Xiang, C and Varshney, RK and Ding, H and Gao, S and Zong, X}, title = {Improved pea reference genome and pan-genome highlight genomic features and evolutionary characteristics.}, journal = {Nature genetics}, volume = {54}, number = {10}, pages = {1553-1563}, pmid = {36138232}, issn = {1546-1718}, support = {CARS-08//Earmarked Fund for China Agriculture Research System/ ; 31801428//National Natural Science Foundation of China (National Science Foundation of China)/ ; }, mesh = {Biological Evolution ; Genomics ; *Peas/genetics ; *Plant Breeding ; Quantitative Trait Loci/genetics ; }, abstract = {Complete and accurate reference genomes and annotations provide fundamental resources for functional genomics and crop breeding. Here we report a de novo assembly and annotation of a pea cultivar ZW6 with contig N50 of 8.98 Mb, which features a 243-fold increase in contig length and evident improvements in the continuity and quality of sequence in complex repeat regions compared with the existing one. Genome diversity of 118 cultivated and wild pea demonstrated that Pisum abyssinicum is a separate species different from P. fulvum and P. sativum within Pisum. Quantitative trait locus analyses uncovered two known Mendel's genes related to stem length (Le/le) and seed shape (R/r) as well as some candidate genes for pod form studied by Mendel. A pan-genome of 116 pea accessions was constructed, and pan-genes preferred in P. abyssinicum and P. fulvum showed distinct functional enrichment, indicating the potential value of them as pea breeding resources in the future.}, } @article {pmid36262045, year = {2022}, author = {Cheng, S}, title = {Gregor Mendel: the Father of Genetics Who Opened A Biological World Full of Wonders.}, journal = {Molecular plant}, volume = {}, number = {}, pages = {}, doi = {10.1016/j.molp.2022.10.013}, pmid = {36262045}, issn = {1752-9867}, } @article {pmid36161020, year = {2022}, author = {Vyskot, B and Siroky, J}, title = {Bicentennial of Gregor Johann Mendel's birth: Mendel's work still addresses geneticists in 2022.}, journal = {Frontiers in plant science}, volume = {13}, number = {}, pages = {969745}, pmid = {36161020}, issn = {1664-462X}, } @article {pmid36094356, year = {2022}, author = {Sussmilch, FC and Ross, JJ and Reid, JB}, title = {Mendel: from Genes to Genome.}, journal = {Plant physiology}, volume = {}, number = {}, pages = {}, doi = {10.1093/plphys/kiac424}, pmid = {36094356}, issn = {1532-2548}, abstract = {Two hundred years after the birth of Gregor Mendel, it is an appropriate time to reflect on recent developments in the discipline of genetics, particularly advances relating to the prescient friar's model species, the garden pea (Pisum sativum L.). Mendel's study of seven characteristics established the laws of segregation and independent assortment. The genes underlying four of Mendel's loci (A, LE, I and R) have been characterised at the molecular level for over a decade. However, the three remaining genes, influencing pod colour (GP), pod form (V/P) and the position of flowers (FA/FAS), have remained elusive for a variety of reasons, including a lack of detail regarding the loci with which Mendel worked. Here we discuss potential candidate genes for these characteristics, in light of recent advances in the genetic resources for pea. These advances, including the pea genome sequence and reverse-genetics techniques, have revitalised pea as an excellent model species for physiological-genetic studies. We also discuss the issues that have been raised with Mendel's results, such as the recent controversy regarding the discrete nature of the characters that Mendel chose and the perceived overly-good fit of his segregations to his hypotheses. We also consider the relevance of these controversies to his lasting contribution. Finally, we discuss the use of Mendel's classical results to teach and enthuse future generations of geneticists, not only regarding the core principles of the discipline, but also its history and the role of hypothesis testing.}, } @article {pmid35993009, year = {2022}, author = {Belkoniene, M}, title = {The rational dimension of understanding.}, journal = {Synthese}, volume = {200}, number = {5}, pages = {349}, doi = {10.1007/s11229-022-03839-z}, pmid = {35993009}, issn = {0039-7857}, abstract = {It is natural to regard understanding as having a rational dimension, in the sense that understanding seems to require having justification for holding certain beliefs about the world. Some philosophers however argue that justification is not required to gain understanding of phenomena. In the present paper, my intention is to provide a critical examination of the arguments that have been offered against the view that understanding requires justification in order to show that, contrary to what they purport to establish, justification remains a plausible requirement on understanding.}, } @article {pmid35901028, year = {2022}, author = {Clarke, J and , }, title = {Mendel's legacy in modern genetics.}, journal = {PLoS biology}, volume = {20}, number = {7}, pages = {e3001760}, pmid = {35901028}, issn = {1545-7885}, mesh = {*Genetic Research ; *Genetics ; History, 19th Century ; }, abstract = {A new collection of articles celebrating the bicentennial of Gregor Mendel's birth discuss his life, work and legacy in modern-day genetic research.}, } @article {pmid35893050, year = {2022}, author = {Poczai, P and Santiago-Blay, JA}, title = {Themes of Biological Inheritance in Early Nineteenth Century Sheep Breeding as Revealed by J. M. Ehrenfels.}, journal = {Genes}, volume = {13}, number = {8}, pages = {}, pmid = {35893050}, issn = {2073-4425}, mesh = {Animals ; Breeding ; *Heredity ; Inheritance Patterns ; Male ; Sheep/genetics ; }, abstract = {Among the so-called sheep breeders interested in biological inheritance in the late eighteenth and early nineteenth centuries and well before Gregor Johann Mendel, J. M. Ehrenfels (1767-1843) produced some of the most cogent writings on the subject. Although earlier in his career Ehrenfels was a strong advocate of environmental factors as influencers on the appearance of organisms, as a result of his discussions with Imre Festetics, he became convinced that whatever is passed from parents to progeny is more important and it is dependent on a "genetic force, the mother of all living things". The sheep breeders kept issues of inheritance at the forefront of the Central European cultural context late into the nineteenth century.}, } @article {pmid35869320, year = {2022}, author = {Charlesworth, B and Goddard, ME and Meyer, K and Visscher, PM and Weir, BS and Wray, NR}, title = {Author Correction: From Mendel to quantitative genetics in the genome era: the scientific legacy of W. G. Hill.}, journal = {Nature genetics}, volume = {54}, number = {9}, pages = {1448}, doi = {10.1038/s41588-022-01160-6}, pmid = {35869320}, issn = {1546-1718}, } @article {pmid35858454, year = {2022}, author = {Stenseth, NC and Andersson, L and Hoekstra, HE}, title = {Gregor Johann Mendel and the development of modern evolutionary biology.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {119}, number = {30}, pages = {e2201327119}, pmid = {35858454}, issn = {1091-6490}, mesh = {Austria ; *Biological Evolution ; *Genetics/history ; History, 19th Century ; }, } @article {pmid35858408, year = {2022}, author = {Barton, NH}, title = {The "New Synthesis".}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {119}, number = {30}, pages = {e2122147119}, pmid = {35858408}, issn = {1091-6490}, mesh = {*Biological Evolution ; *Genetics/history ; *Heredity ; History, 19th Century ; *Selection, Genetic ; }, abstract = {When Mendel's work was rediscovered in 1900, and extended to establish classical genetics, it was initially seen in opposition to Darwin's theory of evolution by natural selection on continuous variation, as represented by the biometric research program that was the foundation of quantitative genetics. As Fisher, Haldane, and Wright established a century ago, Mendelian inheritance is exactly what is needed for natural selection to work efficiently. Yet, the synthesis remains unfinished. We do not understand why sexual reproduction and a fair meiosis predominate in eukaryotes, or how far these are responsible for their diversity and complexity. Moreover, although quantitative geneticists have long known that adaptive variation is highly polygenic, and that this is essential for efficient selection, this is only now becoming appreciated by molecular biologists-and we still do not have a good framework for understanding polygenic variation or diffuse function.}, } @article {pmid35858398, year = {2022}, author = {Hoekstra, HE and Robinson, GE}, title = {Behavioral genetics and genomics: Mendel's peas, mice, and bees.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {119}, number = {30}, pages = {e2122154119}, pmid = {35858398}, issn = {1091-6490}, support = {/HHMI/Howard Hughes Medical Institute/United States ; }, mesh = {Animals ; *Bees/genetics ; *Genetics, Behavioral ; Genomics ; Heredity ; Humans ; Inheritance Patterns ; Mice ; *Peas/genetics ; }, abstract = {The question of the heritability of behavior has been of long fascination to scientists and the broader public. It is now widely accepted that most behavioral variation has a genetic component, although the degree of genetic influence differs widely across behaviors. Starting with Mendel's remarkable discovery of "inheritance factors," it has become increasingly clear that specific genetic variants that influence behavior can be identified. This goal is not without its challenges: Unlike pea morphology, most natural behavioral variation has a complex genetic architecture. However, we can now apply powerful genome-wide approaches to connect variation in DNA to variation in behavior as well as analyses of behaviorally related variation in brain gene expression, which together have provided insights into both the genetic mechanisms underlying behavior and the dynamic relationship between genes and behavior, respectively, in a wide range of species and for a diversity of behaviors. Here, we focus on two systems to illustrate both of these approaches: the genetic basis of burrowing in deer mice and transcriptomic analyses of division of labor in honey bees. Finally, we discuss the troubled relationship between the field of behavioral genetics and eugenics, which reminds us that we must be cautious about how we discuss and contextualize the connections between genes and behavior, especially in humans.}, } @article {pmid35858395, year = {2022}, author = {Berry, A and Browne, J}, title = {Mendel and Darwin.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {119}, number = {30}, pages = {e2122144119}, pmid = {35858395}, issn = {1091-6490}, mesh = {Animals ; *Biological Evolution ; *Breeding/history ; *Genetics/history ; History, 19th Century ; Inheritance Patterns ; Plants/genetics ; Probability ; Seeds ; *Selection, Genetic ; }, abstract = {Evolution by natural selection is an explicitly genetic theory. Darwin recognized that a working theory of inheritance was central to his theory and spent much of his scientific life seeking one. The seeds of his attempt to fill this gap, his "provisional hypothesis" of pangenesis, appear in his notebooks when he was first formulating his evolutionary ideas. Darwin, in short, desperately needed Mendel. In this paper, we set Mendel's work in the context of experimental biology and animal/plant breeding of the period and review both the well-known story of possible contact between Mendel and Darwin and the actual contact between their ideas after their deaths. Mendel's contributions to evolutionary biology were fortuitous. Regardless, it is Mendel's work that completed Darwin's theory. The modern theory based on the marriage between Mendel's and Darwin's ideas as forged most comprehensively by R. A. Fisher is both Darwin's achievement and Mendel's.}, } @article {pmid35858394, year = {2022}, author = {Hartl, DL}, title = {Gregor Johann Mendel: From peasant to priest, pedagogue, and prelate.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {119}, number = {30}, pages = {e2121953119}, pmid = {35858394}, issn = {1091-6490}, mesh = {Clergy ; Dissent and Disputes ; *Genetics/history ; *Heredity ; History, 19th Century ; Peas/genetics ; }, abstract = {Gregor Mendel was an Augustinian priest in the Monastery of St. Thomas in Brünn (Brno, Czech Republic) as well as a civilian employee who taught natural history and physics in the Brünn Modern School. The monastery's secular function was to provide teachers for the public schools across Moravia. It was a cultural, educational, and artistic center with an elite core of friar-teachers with a well-stocked library and other amenities including a gourmet kitchen. It was wealthy, with far-flung holdings yielding income from agricultural productions. Mendel had failed his tryout as a parish priest and did not complete his examination for teaching certification despite 2 y of study at the University of Vienna. In addition to his teaching and religious obligations, Mendel carried out daily meteorological and astronomical observations, cared for the monastery's fruit orchard and beehives, and tended plants in the greenhouse and small outdoor gardens. In the years 1856 to 1863, he carried out experiments on heredity of traits in garden peas regarded as revolutionary today but not widely recognized during his lifetime and until 16 y after his death. In 1868 he was elected abbot of the monastery, a significantly elevated position in the ecclesiastical and civil hierarchy. While he had hoped to be elected, and was honored to accept, he severely underestimated its administrative responsibilities and gradually had to abandon his scientific interests. The last decade of his life was marred by an ugly dispute with civil authorities over monastery taxation.}, } @article {pmid35854153, year = {2022}, author = {}, title = {The true legacy of Gregor Mendel: careful, rigorous and humble science.}, journal = {Nature}, volume = {607}, number = {7919}, pages = {421-422}, pmid = {35854153}, issn = {1476-4687}, } @article {pmid35853043, year = {2022}, author = {Matalova, E}, title = {Johann Gregor Mendel: Born to be a scientist?.}, journal = {PLoS biology}, volume = {20}, number = {7}, pages = {e3001703}, pmid = {35853043}, issn = {1545-7885}, mesh = {*Genetics ; History, 19th Century ; Humans ; *Research Personnel ; }, abstract = {Johann Gregor Mendel, born 200 years ago, was supposed to be a farmer, intended to be a teacher, became a priest, turned to being a researcher, and later became a world famous scientist associated with genetics. Here, we look into his life through his own words.}, } @article {pmid35853012, year = {2022}, author = {Zanders, SE}, title = {What can we learn from selfish loci that break Mendel's law?.}, journal = {PLoS biology}, volume = {20}, number = {7}, pages = {e3001700}, pmid = {35853012}, issn = {1545-7885}, support = {DP2 GM132936/GM/NIGMS NIH HHS/United States ; }, abstract = {Exceptions to Mendel's law of segregation were important for demonstrating that chromosomes carry genetic material. Scrutiny of additional exceptions to Mendel's law caused by selfish genes has the potential to unravel other unsolved mysteries of genetics.}, } @article {pmid35852997, year = {2022}, author = {Mackay, TFC and Anholt, RRH}, title = {Gregor Mendel's legacy in quantitative genetics.}, journal = {PLoS biology}, volume = {20}, number = {7}, pages = {e3001692}, pmid = {35852997}, issn = {1545-7885}, support = {R01 GM128974/GM/NIGMS NIH HHS/United States ; U01 DA041613/DA/NIDA NIH HHS/United States ; }, mesh = {*Genetics ; Phenotype ; }, abstract = {Gregor Mendel's discovery of the laws of segregation and independent assortment and his inference of the existence of non-mendelian interactions between loci remain at the heart of today's explorations of the genetic architecture of quantitative traits.}, } @article {pmid35852990, year = {2022}, author = {McLysaght, A}, title = {The deceptive simplicity of mendelian genetics.}, journal = {PLoS biology}, volume = {20}, number = {7}, pages = {e3001691}, pmid = {35852990}, issn = {1545-7885}, mesh = {*Cognition ; *Genetics ; History, 19th Century ; }, abstract = {Mendel, a genius experimentalist, meticulously uncovered the genetic basis of heredity in work that transformed the science of biology. But does the alluring simplicity of Mendel's laws sometimes obscure the true complexity of genetics?}, } @article {pmid35817984, year = {2022}, author = {}, title = {Mendel, memories and meaning.}, journal = {Nature genetics}, volume = {54}, number = {7}, pages = {907}, doi = {10.1038/s41588-022-01146-4}, pmid = {35817984}, issn = {1546-1718}, } @article {pmid35817970, year = {2022}, author = {van Dijk, PJ and Jessop, AP and Ellis, THN}, title = {How did Mendel arrive at his discoveries?.}, journal = {Nature genetics}, volume = {54}, number = {7}, pages = {926-933}, pmid = {35817970}, issn = {1546-1718}, mesh = {*Genetics ; History, 19th Century ; Inheritance Patterns ; Phenotype ; *Plant Breeding ; Plants/genetics ; }, abstract = {There are few historical records concerning Gregor Johann Mendel and his work, so theories abound concerning his motivation. These theories range from Fisher's view that Mendel was testing a fully formed previous theory of inheritance to Olby's view that Mendel was not interested in inheritance at all, whereas textbooks often state his motivation was to understand inheritance. In this Perspective, we review current ideas about how Mendel arrived at his discoveries and then discuss an alternative scenario based on recently discovered historical sources that support the suggestion that Mendel's fundamental research on the inheritance of traits emerged from an applied plant breeding program. Mendel recognized the importance of the new cell theory; understanding of the formation of reproductive cells and the process of fertilization explained his segregation ratios. This interest was probably encouraged by his friendship with Johann Nave, whose untimely death preceded Mendel's first 1865 lecture by a few months. This year is the 200th anniversary of Mendel's birth, presenting a timely opportunity to revisit the events in his life that led him to undertake his seminal research. We review existing ideas on how Mendel made his discoveries, before presenting more recent evidence.}, } @article {pmid35778507, year = {2022}, author = {Wolf, JB and Ferguson-Smith, AC and Lorenz, A}, title = {Mendel's laws of heredity on his 200th birthday: What have we learned by considering exceptions?.}, journal = {Heredity}, volume = {129}, number = {1}, pages = {1-3}, pmid = {35778507}, issn = {1365-2540}, mesh = {*Genetics ; *Heredity ; History, 19th Century ; Learning ; Models, Genetic ; Selection, Genetic ; }, } @article {pmid35698609, year = {2022}, author = {Bland, JS}, title = {Functional Medicine Past, Present, and Future.}, journal = {Integrative medicine (Encinitas, Calif.)}, volume = {21}, number = {2}, pages = {22-26}, pmid = {35698609}, issn = {1546-993X}, abstract = {Embedded within the Functional Medicine model is the potential for reversibility of altered function. This perspective is inherently different from the Mendelian concept of genetics, which is grounded in the construct of dominate and recessive genetic characteristics. Mendel's work was obviously groundbreaking, but it has also contributed to a deterministic mindset about disease. Many people-even today-believe that health and disease are locked into the genes of every individual. Modern genomic research continues to reveal that the concept of genetic determinism can be (and should be) challenged. The functional interaction of our lifestyle, diet, environment, behavior, and social structure with our genome and epigenome greatly determines our health outcomes. It has been discovered that our aging epigenome can even be rejuvenated. The epigenomic structure is also a powerful predictor of disease outcome and life expectancy. As our understanding of genetic and epigenetic expression patterns grows, the implications for personalized Functional Medicine intervention programs are truly revolutionary.}, } @article {pmid35670984, year = {2022}, author = {Poczai, P and Santiago-Blay, JA and Sekerák, J and Bariska, I and Szabó, AT}, title = {Mimush Sheep and the Spectre of Inbreeding: Historical Background for Festetics's Organic and Genetic Laws Four Decades Before Mendel's Experiments in Peas.}, journal = {Journal of the history of biology}, volume = {}, number = {}, pages = {}, pmid = {35670984}, issn = {1573-0387}, support = {797810002//LUOMUS Trigger Fund/ ; 2/2018-F-4//iASK Research Grant/ ; 2019/4//British Society for the History of Science (BSHS) Research Grant/ ; TAD/CRP JA00100677//OECD CRP Research Grant/ ; }, abstract = {The upheavals of late eighteenth century Europe encouraged people to demand greater liberties, including the freedom to explore the natural world, individually or as part of investigative associations. The Moravian Agricultural and Natural Science Society, organized by Christian Carl André, was one such group of keen practitioners of theoretical and applied scientific disciplines. Headquartered in the "Moravian Manchester" Brünn (nowadays Brno), the centre of the textile industry, society members debated the improvement of sheep wool to fulfil the needs of the Habsburg armies fighting in the Napoleonic Wars. Wool, as the raw material of soldiers' clothing, could influence the war's outcome. During the early nineteenth century, wool united politics, economics, and science in Brno, where breeders and natural scientists investigated the possibilities of increasing wool production. They regularly discussed how "climate" or "seed" characteristics influenced wool quality and quantity. Breeders and academics put their knowledge into immediate practice to create sheep with better wool traits through consanguineous matching of animals and artificial selection. This apparent disregard for the incest taboo, however, was viewed as violating natural laws and cultural norms. The debate intensified between 1817 and 1820, when a Hungarian veteran soldier, sheep breeder, and self-taught natural scientist, Imre (Emmerich) Festetics, displayed his inbred Mimush sheep, which yielded wool extremely well suited for the fabrication of light but strong garments. Members of the Society questioned whether such "bastard sheep" would be prone to climatic degeneration, should be regarded as freaks of nature, or could be explained by natural laws. The exploration of inbreeding in sheep began to be distilled into hereditary principles that culminated in 1819 with Festetics's "laws of organic functions" and "genetic laws of nature," four decades before Gregor Johann Mendel's seminal work on heredity in peas.}, } @article {pmid35595848, year = {2022}, author = {Nasmyth, K}, title = {The magic and meaning of Mendel's miracle.}, journal = {Nature reviews. Genetics}, volume = {23}, number = {7}, pages = {447-452}, pmid = {35595848}, issn = {1471-0064}, abstract = {July 2022 will see the bicentenary of the birth of Gregor Mendel, often hailed as the 'father of modern genetics'. To mark the occasion, I retrace Mendel's origins, revisit his famous study 'Experiments in plant hybridization', and reflect on the revolutionary implications of his work and scientific legacy that continues to shape modern biomedicine to this day.}, } @article {pmid35508637, year = {2022}, author = {Zschocke, J and Byers, PH and Wilkie, AOM}, title = {Gregor Mendel and the concepts of dominance and recessiveness.}, journal = {Nature reviews. Genetics}, volume = {23}, number = {7}, pages = {387-388}, pmid = {35508637}, issn = {1471-0064}, } @article {pmid35478254, year = {2022}, author = {Eckardt, NA and Birchler, JA and Meyers, BC}, title = {Focus on plant genetics: Celebrating Gregor Mendel's 200th birth anniversary.}, journal = {The Plant cell}, volume = {34}, number = {7}, pages = {2453-2454}, pmid = {35478254}, issn = {1532-298X}, mesh = {*Anniversaries and Special Events ; *Plants/genetics ; }, } @article {pmid35414696, year = {2022}, author = {Fairbanks, DJ}, title = {Demystifying the mythical Mendel: a biographical review.}, journal = {Heredity}, volume = {129}, number = {1}, pages = {4-11}, pmid = {35414696}, issn = {1365-2540}, mesh = {*Heredity ; History, 19th Century ; Hybridization, Genetic ; Inheritance Patterns ; Plants/genetics ; Selection, Genetic ; }, abstract = {Gregor Mendel is widely recognised as the founder of genetics. His experiments led him to devise an enduring theory, often distilled into what are now known as the principles of segregation and independent assortment. Although he clearly articulated these principles, his theory is considerably richer, encompassing the nature of fertilisation, the role of hybridisation in evolution, and aspects often considered as exceptions or extensions, such as pleiotropy, incomplete dominance, and epistasis. In an admirable attempt to formulate a more expansive theory, he researched hybridisation in at least twenty plant genera, intentionally choosing some species whose inheritance he knew would deviate from the patterns he observed in the garden pea (Pisum sativum). Regrettably, he published the results of only a few of these additional experiments; evidence of them is largely confined to letters he wrote to Carl von Nägeli. Because most original documentation is lost or destroyed, scholars have attempted to reconstruct his history and achievements from fragmentary evidence, a situation that has led to unfortunate omissions, errors, and speculations. These range from historical uncertainties, such as what motivated his experiments, to unfounded suppositions regarding his discoveries, including assertions that he never articulated the principles ascribed to him, staunchly opposed Darwinism, fictitiously recounted experiments, and falsified data to better accord with his theory. In this review, I have integrated historical and scientific evidence within a biographical framework to dispel misconceptions and provide a clearer and more complete view of who Mendel was and what he accomplished.}, } @article {pmid35409335, year = {2022}, author = {Cheng, A and Harikrishna, JA and Redwood, CS and Lit, LC and Nath, SK and Chua, KH}, title = {Genetics Matters: Voyaging from the Past into the Future of Humanity and Sustainability.}, journal = {International journal of molecular sciences}, volume = {23}, number = {7}, pages = {}, pmid = {35409335}, issn = {1422-0067}, support = {R01 AR060366/AR/NIAMS NIH HHS/United States ; AR060366//National Institute of Health/ ; }, mesh = {Databases, Genetic ; *Heredity ; Inheritance Patterns ; }, abstract = {The understanding of how genetic information may be inherited through generations was established by Gregor Mendel in the 1860s when he developed the fundamental principles of inheritance. The science of genetics, however, began to flourish only during the mid-1940s when DNA was identified as the carrier of genetic information. The world has since then witnessed rapid development of genetic technologies, with the latest being genome-editing tools, which have revolutionized fields from medicine to agriculture. This review walks through the historical timeline of genetics research and deliberates how this discipline might furnish a sustainable future for humanity.}, } @article {pmid35346392, year = {2022}, author = {Zhang, H and Zhao, X and Zhao, F and Han, J and Sun, K}, title = {Mendel's controlled pollination experiments in Mirabilis jalapa confirmed his discovery of the gamete theory of inheritance in Pisum.}, journal = {Hereditas}, volume = {159}, number = {1}, pages = {19}, pmid = {35346392}, issn = {1601-5223}, support = {31060033//National Natural Science Foundation of China/ ; }, mesh = {Germ Cells ; Inheritance Patterns ; *Mirabilis ; Peas ; Pollination ; }, abstract = {The historian studies revealed during Mendel's later research period when mainly focusing on the constant hybrid in Hieracium, he had to be intervened to conduct the controlled pollination experiments in Mirabilis jalapa. Two letters to Nageli recorded the experimental aim was to disprove Darwin's opinion regarding three pollen grains required for one fertilization (note: that could completely destroy his previous discovery of segregation inheritance in variable hybrid in Pisum, for it was expressed in a mathematical equation). The experimental results of single pollen grain pollination confirmed the referenced view of one pollen cell uniting one egg cell in plant fertilization; the further pedigree introduction of the single and of the designed two pollen grain experiment succeeded in exemplifying that one hereditary factor carried by one gamete (pollen cell or egg cell) can independently transmit a trait to offspring. Here we coined the observation as the Gamete Theory of Inheritance. Remarkably, in contrast with the bulked pollination experiment, in this system, Mendel could easily manipulate a hereditary factor by merely taking a gamete as a carrier. Then, Mendel's work in M. jalapa together with the previous Pisum study was able to jointly suppport his second lecture content that regarded "gamete formation, fertilization, and seed development" and also regarded hereditary factors in the processes. All in all, the 1866 paper was published during a rapid burst of interest in hybrid species likely induced by Darwin, and Mendel's attempts at accommodation of the two incompatible inheritances of segregation in variable hybrids versus of nonsegregation in constant hybrids might be responsible for some historical controversies when understanding his discovery of inheritance.}, } @article {pmid35313209, year = {2022}, author = {Radick, G}, title = {Mendel the fraud? A social history of truth in genetics.}, journal = {Studies in history and philosophy of science}, volume = {93}, number = {}, pages = {39-46}, doi = {10.1016/j.shpsa.2021.12.012}, pmid = {35313209}, issn = {0039-3681}, mesh = {Fraud ; Gardening ; *Genetics/history ; History, 19th Century ; *Peas ; }, abstract = {Two things about Gregor Mendel are common knowledge: first, that he was the "monk in the garden" whose experiments with peas in mid-nineteenth-century Moravia became the starting point for genetics; second, that, despite that exalted status, there is something fishy, maybe even fraudulent, about the data that Mendel reported. Although the notion that Mendel's numbers were, in statistical terms, too good to be true was well understood almost immediately after the famous "rediscovery" of his work in 1900, the problem became widely discussed and agonized over only from the 1960s, for reasons having as much to do with Cold War geopolitics as with traditional concerns about the objectivity of science. Appreciating the historical origins of the problem as we have inherited it can be a helpful step in shifting the discussion in more productive directions, scientific as well as historiographic.}, } @article {pmid35253258, year = {2022}, author = {Lerdau, M}, title = {The complicated legacy of E. O. Wilson with respect to genetics and human behavior.}, journal = {BioEssays : news and reviews in molecular, cellular and developmental biology}, volume = {44}, number = {5}, pages = {e2200034}, doi = {10.1002/bies.202200034}, pmid = {35253258}, issn = {1521-1878}, mesh = {*Behavior ; Humans ; *Selection, Genetic ; }, abstract = {Over the arc of his career, E. O. Wilson first embraced, then popularized, and finally rejected an extreme genetical hereditarian view of human nature. The controversy that ensued during the period of popularization (largely in the 1970s and 1980s) obscured the fact that empirical and theoretical research during this time undercut the assumptions necessary for this view. By the end of his career, Wilson accepted the fact that individual/kin selection models were insufficient to explain human behavior and society, and he began conducting research based upon multilevel (group) selection, an idea he had previously scorned.}, } @article {pmid35238371, year = {2022}, author = {Berger, F}, title = {Which field of research would Gregor Mendel choose in the 21st century?.}, journal = {The Plant cell}, volume = {34}, number = {7}, pages = {2462-2465}, pmid = {35238371}, issn = {1532-298X}, mesh = {*Genomics ; Molecular Biology ; Phenotype ; *Plants ; }, abstract = {Gregor Mendel's work on segregation of traits in plants established the basic methodology and rules of genetics. The interruption of Mendel's research activities in 1870 impeded the immediate recognition of the value of his work until the dawn of the 20th century. Only then were his founding laws of genetics validated, propelling the development of biological research toward the birth of molecular biology in the second half of the 20th century. While molecular plant genetics can be viewed as the spiritual heir of Mendel's research, one might wonder whether in the 21st century Gregor Mendel would prefer to practice scientific approaches other than molecular genetics such as population genetics, comparative genomics, or the emerging field of evo-chromo. In this perspective, I review aspects of these fields that might have attracted or perplexed a 21st century Mendel.}, } @article {pmid35218351, year = {2022}, author = {Mittelsten Scheid, O}, title = {Mendelian and non-Mendelian genetics in model plants.}, journal = {The Plant cell}, volume = {34}, number = {7}, pages = {2455-2461}, pmid = {35218351}, issn = {1532-298X}, mesh = {*Inheritance Patterns/genetics ; *Plants/genetics ; }, abstract = {The "Mendelian Rules" of inheritance are cornerstones of genetics, described in Mendel's seminal publication from 1866. The experimental results and their interpretation have been discussed in numerous ways. This perspective emphasizes the contribution of Mendel's preparations prior to his crossing experiments to the discovery of Mendelian genetics. This thoughtful experimental design, and some fortune, avoided pitfalls that could have resulted in non-Mendelian inheritance.}, } @article {pmid35052043, year = {2021}, author = {Huminiecki, Ł}, title = {Virtual Gene Concept and a Corresponding Pragmatic Research Program in Genetical Data Science.}, journal = {Entropy (Basel, Switzerland)}, volume = {24}, number = {1}, pages = {}, pmid = {35052043}, issn = {1099-4300}, support = {2016/21/P/NZ2/03926//National Science Center/ ; }, abstract = {Mendel proposed an experimentally verifiable paradigm of particle-based heredity that has been influential for over 150 years. The historical arguments have been reflected in the near past as Mendel's concept has been diversified by new types of omics data. As an effect of the accumulation of omics data, a virtual gene concept forms, giving rise to genetical data science. The concept integrates genetical, functional, and molecular features of the Mendelian paradigm. I argue that the virtual gene concept should be deployed pragmatically. Indeed, the concept has already inspired a practical research program related to systems genetics. The program includes questions about functionality of structural and categorical gene variants, about regulation of gene expression, and about roles of epigenetic modifications. The methodology of the program includes bioinformatics, machine learning, and deep learning. Education, funding, careers, standards, benchmarks, and tools to monitor research progress should be provided to support the research program.}, } @article {pmid34997802, year = {2022}, author = {Kendler, KS}, title = {The beginnings of biometrical psychiatric genetics: Studies of the insane diathesis 1905-1909.}, journal = {American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics}, volume = {189}, number = {1-2}, pages = {6-15}, doi = {10.1002/ajmg.b.32885}, pmid = {34997802}, issn = {1552-485X}, mesh = {Disease Susceptibility ; History, 20th Century ; Humans ; Male ; Phenotype ; *Research Personnel ; }, abstract = {The year 1900 saw not only the rediscovery of Mendel's hybridization studies but also the publication by Karl Pearson of his newly developed tetrachoric correlation which he used to study the parent-offspring resemblance for the "insane diathesis" in 1905. This was followed by more detailed reports by two of his students/associates: Heron in 1907 and Goring in 1909. Both calculated the tetrachoric correlation for insanity in parent-offspring and Heron for sib-sib pairs. Estimates ranged from approximately +0.30 to +0.60. These papers were statistically sophisticated but demonstrated minimal interest in the phenotype being studied. They are of historical interest because they laid the groundwork for biometrical psychiatric genetics which emerged as a major research paradigm in latter third of the 20th century. In a biting critique of Heron's paper by a young Ernst Rüdin, we see the beginnings of a long-running argument in psychiatric genetics about the relative value of detailed phenotyping versus novel statistical methods and of Mendelian versus Biometrical methods. While much interest has focused on the eugenic orientation of German psychiatric genetics in the early 20th century, these early British biometrical geneticists, like the majority of geneticists of that day, were also ardent advocates of the eugenic application of their research results.}, } @article {pmid34674746, year = {2021}, author = {Poczai, P and Santiago-Blay, JA}, title = {Principles and biological concepts of heredity before Mendel.}, journal = {Biology direct}, volume = {16}, number = {1}, pages = {19}, pmid = {34674746}, issn = {1745-6150}, mesh = {Animals ; *Heredity ; History, 19th Century ; Humans ; }, abstract = {The knowledge of the history of a subject stimulates understanding. As we study how other people have made scientific breakthroughs, we develop the breadth of imagination that would inspire us to make new discoveries of our own. This perspective certainly applies to the teaching of genetics as hallmarked by the pea experiments of Mendel. Common questions students have in reading Mendel's paper for the first time is how it compares to other botanical, agricultural, and biological texts from the early and mid-nineteenth centuries; and, more precisely, how Mendel's approach to, and terminology for debating, topics of heredity compare to those of his contemporaries? Unfortunately, textbooks are often unavailing in answering such questions. It is very common to find an introduction about heredity in genetic textbooks covering Mendel without mentions of preceding breeding experiments carried out in his alma mater. This does not help students to understand how Mendel came to ask the questions he did, why he did, or why he planned his pea studies the way he did. Furthermore, the standard textbook "sketch" of genetics does not allow students to consider how discoveries could have been framed and inspired so differently in various parts of the world within a single historical time. In our review we provide an extended overview bridging this gap by showing how different streams of ideas lead to the eventual foundation of particulate inheritance as a scientific discipline. We close our narrative with investigations on the origins of animal and plant breeding in Central Europe prior to Mendel in Kőszeg and Brno, where vigorous debates touched on basic issues of heredity from the early eighteenth-century eventually reaching a pinnacle coining the basic questions: What is inherited and how is it passed on from one generation to another?}, } @article {pmid34629128, year = {2021}, author = {Aylward, A}, title = {R.A. Fisher, eugenics, and the campaign for family allowances in interwar Britain.}, journal = {British journal for the history of science}, volume = {54}, number = {4}, pages = {485-505}, doi = {10.1017/S0007087421000674}, pmid = {34629128}, issn = {1474-001X}, mesh = {*Aid to Families with Dependent Children ; Biological Evolution ; *Eugenics ; History, 20th Century ; Humans ; Selection, Genetic ; United Kingdom ; United States ; }, abstract = {Ronald Aylmer Fisher (1890-1962) is today remembered as a giant of twentieth-century statistics, genetics and evolutionary theory. Alongside his influential scientific contributions, he was also, throughout the interwar years, a prominent figure within Britain's eugenics movement. This essay provides a close examination of his eugenical ideas and activities, focusing particularly upon his energetic advocacy of family allowances, which he hoped would boost eugenic births within the more 'desirable' middle and upper classes. Fisher's proposals, which were grounded in his distinctive explanation for the decay of civilizations throughout human history, enjoyed support from some influential figures in Britain's Eugenics Society and beyond. The ultimate failure of his campaign, though, highlights tensions both between the eugenics and family allowances movements, and within the eugenics movement itself. I show how these social and political movements represented a crucial but heretofore overlooked context for the reception of Fisher's evolutionary masterwork of 1930, The Genetical Theory of Natural Selection, with its notorious closing chapters on the causes and cures of national and racial decline.}, } @article {pmid34544325, year = {2021}, author = {Dason, JS and Anreiter, I and Wu, CF}, title = {Transcending boundaries: from quantitative genetics to single genes.}, journal = {Journal of neurogenetics}, volume = {35}, number = {3}, pages = {95-98}, doi = {10.1080/01677063.2021.1960519}, pmid = {34544325}, issn = {1563-5260}, mesh = {Genetics/*history ; History, 20th Century ; History, 21st Century ; }, } @article {pmid34455258, year = {2021}, author = {Shan, Y}, title = {Beyond Mendelism and Biometry.}, journal = {Studies in history and philosophy of science}, volume = {89}, number = {}, pages = {155-163}, doi = {10.1016/j.shpsa.2021.08.014}, pmid = {34455258}, issn = {0039-3681}, mesh = {*Biometry/history ; Fruit ; *Genetics/history ; History, 19th Century ; History, 20th Century ; Reading Frames ; }, abstract = {Historiographical analyses of the development of genetics in the first decade of the 20th century have been to a great extent framed in the context of the Mendelian-Biometrician controversy. Much has been discussed on the nature, origin, development, and legacy of the controversy. However, such a framework is becoming less useful and fruitful. This paper challenges the traditional historiography framed by the Mendelian-Biometrician distinction. It argues that the Mendelian-Biometrician distinction fails to reflect the theoretical and methodological diversity in the controversy. It also argues that the Mendelian-Biometrician distinction is not helpful to make a full understanding of the development of genetics in the first decade of the twentieth century.}, } @article {pmid34116161, year = {2022}, author = {Liu, J}, title = {Giant cells: Linking McClintock's heredity to early embryogenesis and tumor origin throughout millennia of evolution on Earth.}, journal = {Seminars in cancer biology}, volume = {81}, number = {}, pages = {176-192}, doi = {10.1016/j.semcancer.2021.06.007}, pmid = {34116161}, issn = {1096-3650}, mesh = {Aged ; Carcinogenesis/genetics/metabolism ; Cell Transformation, Neoplastic/metabolism ; Embryonic Development/genetics ; Giant Cells/metabolism ; *Heredity ; Humans ; *Neoplasms/genetics/metabolism ; Polyploidy ; }, abstract = {The "life code" theory postulates that egg cells, which are giant, are the first cells in reproduction and that damaged or aged giant somatic cells are the first cells in tumorigenesis. However, the hereditary basis for giant cells remains undefined. Here I propose that stress-induced genomic reorganization proposed by Nobel Laureate Barbara McClintock may represent the underlying heredity for giant cells, referred to as McClintock's heredity. Increase in cell size may serve as a response to environmental stress via switching proliferative mitosis to intranuclear replication for reproduction. Intranuclear replication activates McClintock's heredity to reset the genome following fertilization for reproduction or restructures the somatic genome for neoplastic transformation via formation of polyploid giant cancer cells (PGCCs). The genome-based McClintock heredity functions together with gene-based Mendel's heredity to regulate the genomic stability at two different stages of life cycle or tumorigenesis. Thus, giant cells link McClintock's heredity to both early embryogenesis and tumor origin. Cycling change in cell size together with ploidy number switch may represent the most fundamental mechanism on how both germ and soma for coping with environmental stresses for the survival across the tree of life which evolved over millions of years on Earth.}, } @article {pmid33979646, year = {2021}, author = {Baverstock, K}, title = {The gene: An appraisal.}, journal = {Progress in biophysics and molecular biology}, volume = {164}, number = {}, pages = {46-62}, doi = {10.1016/j.pbiomolbio.2021.04.005}, pmid = {33979646}, issn = {1873-1732}, mesh = {Databases, Genetic ; *Escherichia coli ; *Genetics ; Genotype ; Phenotype ; Selection, Genetic ; }, abstract = {The gene can be described as the foundational concept of modern biology. As such, it has spilled over into daily discourse, yet it is acknowledged among biologists to be ill-defined. Here, following a short history of the gene, I analyse critically its role in inheritance, evolution, development, and morphogenesis. Wilhelm Johannsen's genotype-conception, formulated in 1910, has been adopted as the foundation stone of genetics, giving the gene a higher degree of prominence than is justified by the evidence. An analysis of the results of the Long-Term Evolution Experiment (LTEE) with E. coli bacteria, grown over 60,000 generations, does not support spontaneous gene mutation as the source of variance for natural selection. From this it follows that the gene is not Mendel's unit of inheritance: that must be Johannsen's transmission-conception at the gamete phenotype level, a form of inheritance that Johannsen did not consider. Alternatively, I contend that biology viewed on the bases of thermodynamics, complex system dynamics and self-organisation, provides a new framework for the foundations of biology. In this framework, the gene plays a passive role as a vital information store: it is the phenotype that plays the active role in inheritance, evolution, development, and morphogenesis.}, } @article {pmid33720317, year = {2021}, author = {Shirasawa, K and Sasaki, K and Hirakawa, H and Isobe, S}, title = {Genomic region associated with pod color variation in pea (Pisum sativum).}, journal = {G3 (Bethesda, Md.)}, volume = {11}, number = {5}, pages = {}, pmid = {33720317}, issn = {2160-1836}, mesh = {Flowers ; *Genomics ; *Peas/genetics ; Phenotype ; }, abstract = {Pea (Pisum sativum) was chosen as the research material by Gregor Mendel to discover the laws of inheritance. Out of seven traits studied by Mendel, genes controlling three traits including pod shape, pod color, and flower position have not been identified to date. With the aim of identifying the genomic region controlling pod color, we determined the genome sequence of a pea line with yellow pods. Genome sequence reads obtained using a Nanopore sequencing technology were assembled into 117,981 contigs (3.3 Gb), with an N50 value of 51.2 kb. A total of 531,242 potential protein-coding genes were predicted, of which 519,349 (2.8 Gb) were located within repetitive sequences (2.8 Gb). The assembled sequences were ordered using a reference as a guide to build pseudomolecules. Subsequent genetic and association analyses led to the identification of a genomic region that controls pea pod color. DNA sequences at this genomic location and transcriptome profiles of green and yellow pod lines were analyzed, and genes encoding 3' exoribonucleases were selected as potential candidates controlling pod color. The results presented in this study are expected to accelerate pan-genome studies in pea and facilitate the identification of the gene controlling one of the traits studied by Mendel.}, } @article {pmid32776361, year = {2020}, author = {Huminiecki, Ł}, title = {A Contemporary Message from Mendel's Logical Empiricism.}, journal = {BioEssays : news and reviews in molecular, cellular and developmental biology}, volume = {42}, number = {9}, pages = {e2000120}, doi = {10.1002/bies.202000120}, pmid = {32776361}, issn = {1521-1878}, support = {2016/21/P/NZ2/03926//National Science Centre, Poland/International ; 665778//European Union's Horizon 2020 research and innovation programme/International ; }, mesh = {*Empiricism ; Genomics ; *Heredity ; History, 20th Century ; Technology ; }, abstract = {The gene is one of the most fundamental concepts in life sciences, having been developed in the mold of the Mendelian paradigm of heredity, which shaped genetics across 150 years. How could Mendel possibly be so prophetic in the middle of 19th century, using only the small garden of the monastery as his experimental breeding field? I believe that we are indebted to Mendel's mastery of the scientific method, which was far ahead of his time. Although his experimental technology was literally garden-variety, Mendel's excellence in the method of science, algebra, and logical analysis helped him in designing the right experiment and in interpreting the results insightfully. This may be valuable to recall in today's technology-focused culture, where the center of interest tends to be on the generation and description of high-throughput datasets from specialized genomics screens. As Mendel's story suggests, progress in 21st century genetics may also depend on the development of robust concepts and generalizations.}, } @article {pmid32610142, year = {2020}, author = {López Del Amo, V and Leger, BS and Cox, KJ and Gill, S and Bishop, AL and Scanlon, GD and Walker, JA and Gantz, VM and Choudhary, A}, title = {Small-Molecule Control of Super-Mendelian Inheritance in Gene Drives.}, journal = {Cell reports}, volume = {31}, number = {13}, pages = {107841}, pmid = {32610142}, issn = {2211-1247}, support = {DP5 OD023098/OD/NIH HHS/United States ; R01 GM132825/GM/NIGMS NIH HHS/United States ; R21 AI126239/AI/NIAID NIH HHS/United States ; }, mesh = {Animals ; Animals, Genetically Modified ; CRISPR-Associated Protein 9/metabolism ; Drosophila melanogaster/*genetics ; *Gene Drive Technology ; Inheritance Patterns/*genetics ; Pharmaceutical Preparations ; Small Molecule Libraries/*metabolism ; }, abstract = {Synthetic CRISPR-based gene-drive systems have tremendous potential in public health and agriculture, such as for fighting vector-borne diseases or suppressing crop pest populations. These elements can rapidly spread in a population by breaching the inheritance limit of 50% dictated by Mendel's law of gene segregation, making them a promising tool for population engineering. However, current technologies lack control over their propagation capacity, and there are important concerns about potential unchecked spreading. Here, we describe a gene-drive system in Drosophila that generates an analog inheritance output that can be tightly and conditionally controlled to between 50% and 100%. This technology uses a modified SpCas9 that responds to a synthetic, orally available small molecule, fine-tuning the inheritance probability. This system opens a new avenue to feasibility studies for spatial and temporal control of gene drives using small molecules.}, } @article {pmid32529511, year = {2020}, author = {Mukamal, KJ and Rimm, EB and Stampfer, MJ}, title = {Reply to: Mendel's laws, Mendelian randomization and causal inference in observational data: substantive and nomenclatural issues.}, journal = {European journal of epidemiology}, volume = {35}, number = {7}, pages = {725-726}, doi = {10.1007/s10654-020-00652-1}, pmid = {32529511}, issn = {1573-7284}, mesh = {Humans ; *Mendelian Randomization Analysis ; *Models, Genetic ; }, } @article {pmid32431764, year = {2020}, author = {Sparks, RA and Baldwin, KE and Darner, R}, title = {Using Culturally Relevant Pedagogy to Reconsider the Genetics Canon.}, journal = {Journal of microbiology & biology education}, volume = {21}, number = {1}, pages = {}, pmid = {32431764}, issn = {1935-7877}, abstract = {In this article, we explore culturally relevant pedagogy (CRP) to work toward alleviating persistent underrepresentation in STEM fields of oppressed minorities. We argue that biology instructors can practice agency, or the capacity to act in ways that undermine opportunity gaps that lead to underrepresentation, by developing themselves into culturally relevant pedagogues who are committed to underrepresented minority (URM) students' learning and career success, who demonstrate cultural competence, and who develop a sociopolitical consciousness regarding the culturally laden nature of their discipline. We then explore Gregor Mendel's story to demonstrate the culturally laden nature of the history of science as well as the nature of our current curricular canon. The article concludes with a postulated alternative method to genetics education in a general biology course that reflects the culturally laden nature of our genetics knowledge, as well as our current understanding of inheritance.}, } @article {pmid32397225, year = {2020}, author = {Smýkal, P and von Wettberg, EJB and McPhee, K}, title = {Legume Genetics and Biology: From Mendel's Pea to Legume Genomics.}, journal = {International journal of molecular sciences}, volume = {21}, number = {9}, pages = {}, pmid = {32397225}, issn = {1422-0067}, support = {IGA-2020_003//Grant Agency of Czech Republic and Grant Agency of Palacký University/ ; }, mesh = {Crops, Agricultural/genetics/history/metabolism ; Fabaceae/*genetics/*metabolism ; Genetic Variation ; *Genomics ; Heredity ; History, 19th Century ; History, Ancient ; History, Medieval ; Humans ; Models, Genetic ; Nitrogen Fixation/genetics/physiology ; Phenotype ; }, abstract = {Legumes have played an important part in cropping systems since the dawn of agriculture, both as human food and as animal feed. The legume family is arguably one of the most abundantly domesticated crop plant families. Their ability to symbiotically fix nitrogen and improve soil fertility has been rewarded since antiquity and makes them a key protein source. The pea was the original model organism used in Mendel's discovery of the laws of inheritance, making it the foundation of modern plant genetics. This Special Issue provides up-to-date information on legume biology, genetic advances, and the legacy of Mendel.}, } @article {pmid32014100, year = {2020}, author = {Nivet, C}, title = {[Was Gregor Mendel subjected to chores before becoming a monk in 1843?].}, journal = {Medecine sciences : M/S}, volume = {36}, number = {1}, pages = {63-68}, doi = {10.1051/medsci/2019265}, pmid = {32014100}, issn = {1958-5381}, mesh = {Czech Republic ; Faculty/education/*history ; History, 19th Century ; Humans ; Monks/*history ; Philosophy/history ; Social Class/*history ; Taxes ; Teacher Training/history ; *Theology/education/history ; *Work/economics/history ; }, abstract = {Our knowledge of the young Mendel's life prior to his admission to the monastery comes essentially from the curriculum vitae submitted in 1850. His first biographer Hugo Iltis used this document as a sort of autobiography, although the document contained various voluntary omissions and inaccuracies. We have sought the reasons for these and in so doing have discovered why Mendel's entry into religion had become ineluctable.}, } @article {pmid31886520, year = {2020}, author = {Henshaw, JM and Jones, AG}, title = {Fisher's lost model of runaway sexual selection.}, journal = {Evolution; international journal of organic evolution}, volume = {74}, number = {2}, pages = {487-494}, doi = {10.1111/evo.13910}, pmid = {31886520}, issn = {1558-5646}, mesh = {Animals ; Female ; *Mating Preference, Animal ; Models, Biological ; }, abstract = {The bizarre elaboration of sexually selected traits such as the peacock's tail was a puzzle to Charles Darwin and his 19th century followers. Ronald A. Fisher crafted an ingenious solution in the 1930s, positing that female preferences would become genetically correlated with preferred traits due to nonrandom mating. These genetic correlations would translate selection for preferred traits into selection for stronger preferences, leading to a self-reinforcing process of ever-elaborating traits and preferences. It is widely believed that Fisher provided only a verbal model of this "runaway" process. However, in correspondence with Charles Galton Darwin, Fisher also laid out a simple mathematical model that purportedly confirms his verbal prediction of runaway sexual selection. Unfortunately, Fisher's model contains inconsistencies that render his quantitative conclusions inaccurate. Here, we correct Fisher's model and show that it contains all the ingredients of a working runaway process. We derive quantitative predictions of his model using numerical techniques that were unavailable in Fisher's time. Depending on parameter values, mean traits and preferences may increase until genetic variance is depleted by selection, exaggerate exponentially while their variances remain stable, or both means and variances may increase super-exponentially. We thus present the earliest mathematical model of runaway sexual selection.}, } @article {pmid31848463, year = {2020}, author = {Fairbanks, DJ}, title = {Mendel and Darwin: untangling a persistent enigma.}, journal = {Heredity}, volume = {124}, number = {2}, pages = {263-273}, pmid = {31848463}, issn = {1365-2540}, mesh = {*Biological Evolution ; Genetic Research/*history ; History, 19th Century ; Humans ; *Selection, Genetic ; }, abstract = {Mendel and Darwin were contemporaries, with much overlap in their scientifically productive years. Available evidence shows that Mendel knew much about Darwin, whereas Darwin knew nothing of Mendel. Because of the fragmentary nature of this evidence, published inferences regarding Mendel's views on Darwinian evolution are contradictory and enigmatic, with claims ranging from enthusiastic acceptance to outright rejection. The objective of this review is to examine evidence from Mendel's published and private writings on evolution and Darwin, and the influence of the scientific environment in which he was immersed. Much of this evidence lies in Mendel's handwritten annotations in his copies of Darwin's books, which this review scrutinises in detail. Darwin's writings directly influenced Mendel's classic 1866 paper, and his letters to Nägeli. He commended and criticised Darwin on specific issues pertinent to his research, including the provisional hypothesis of pangenesis, the role of pollen in fertilisation, and the influence of "conditions of life" on heritable variation. In his final letter to Nägeli, Mendel proposed a Darwinian scenario for natural selection using the same German term for "struggle for existence" as in his copies of Darwin's books. His published and private scientific writings are entirely objective, devoid of polemics or religious allusions, and address evolutionary questions in a manner consistent with that of his scientific contemporaries. The image that emerges of Mendel is of a meticulous scientist who accepted the tenets of Darwinian evolution, while privately pinpointing aspects of Darwin's views of inheritance that were not supported by Mendel's own experiments.}, } @article {pmid31695583, year = {2019}, author = {Ellis, THN and Hofer, JMI and Swain, MT and van Dijk, PJ}, title = {Mendel's pea crosses: varieties, traits and statistics.}, journal = {Hereditas}, volume = {156}, number = {}, pages = {33}, pmid = {31695583}, issn = {1601-5223}, mesh = {*Crosses, Genetic ; Genetic Variation ; Genotype ; *Models, Genetic ; Peas/*genetics ; Plant Breeding ; Quantitative Trait, Heritable ; }, abstract = {A controversy arose over Mendel's pea crossing experiments after the statistician R.A. Fisher proposed how these may have been performed and criticised Mendel's interpretation of his data. Here we re-examine Mendel's experiments and investigate Fisher's statistical criticisms of bias. We describe pea varieties available in Mendel's time and show that these could readily provide all the material Mendel needed for his experiments; the characters he chose to follow were clearly described in catalogues at the time. The combination of character states available in these varieties, together with Eichling's report of crosses Mendel performed, suggest that two of his F3 progeny test experiments may have involved the same F2 population, and therefore that these data should not be treated as independent variables in statistical analysis of Mendel's data. A comprehensive re-examination of Mendel's segregation ratios does not support previous suggestions that they differ remarkably from expectation. The χ2 values for his segregation ratios sum to a value close to the expectation and there is no deficiency of extreme segregation ratios. Overall the χ values for Mendel's segregation ratios deviate slightly from the standard normal distribution; this is probably because of the variance associated with phenotypic rather than genotypic ratios and because Mendel excluded some data sets with small numbers of progeny, where he noted the ratios "deviate not insignificantly" from expectation.}, } @article {pmid31505547, year = {2019}, author = {Kullmann, DM}, title = {Editorial.}, journal = {Brain : a journal of neurology}, volume = {142}, number = {7}, pages = {1847}, doi = {10.1093/brain/awz173}, pmid = {31505547}, issn = {1460-2156}, mesh = {History, 19th Century ; History, 20th Century ; Humans ; Retraction of Publication as Topic ; Scientific Misconduct/*history ; }, } @article {pmid31477928, year = {2019}, author = {}, title = {Mendel for the modern era.}, journal = {Nature genetics}, volume = {51}, number = {9}, pages = {1297}, doi = {10.1038/s41588-019-0501-0}, pmid = {31477928}, issn = {1546-1718}, mesh = {*Genes, Plant ; Genetic Research ; *Genetics ; *Genome, Plant ; *Mendelian Randomization Analysis ; Peas/*genetics ; }, } @article {pmid31413381, year = {2019}, author = {Kennedy-Shaffer, L}, title = {Before p < 0.05 to Beyond p < 0.05: Using History to Contextualize p-Values and Significance Testing.}, journal = {The American statistician}, volume = {73}, number = {Suppl 1}, pages = {82-90}, pmid = {31413381}, issn = {0003-1305}, support = {T32 AI007358/AI/NIAID NIH HHS/United States ; }, abstract = {As statisticians and scientists consider a world beyond p < 0.05, it is important to not lose sight of how we got to this point. Although significance testing and p-values are often presented as prescriptive procedures, they came about through a process of refinement and extension to other disciplines. Ronald A. Fisher and his contemporaries formalized these methods in the early twentieth century and Fisher's 1925 Statistical Methods for Research Workers brought the techniques to experimentalists in a variety of disciplines. Understanding how these methods arose, spread, and were argued over since then illuminates how p < 0.05 came to be a standard for scientific inference, the advantage it offered at the time, and how it was interpreted. This historical perspective can inform the work of statisticians today by encouraging thoughtful consideration of how their work, including proposed alternatives to the p-value, will be perceived and used by scientists. And it can engage students more fully and encourage critical thinking rather than rote applications of formulae. Incorporating history enables students, practitioners, and statisticians to treat the discipline as an ongoing endeavor, crafted by fallible humans, and provides a deeper understanding of the subject and its consequences for science and society.}, } @article {pmid31247678, year = {2019}, author = {Hickey, J and Gorjanc, G and Hill, B}, title = {The Fest Issue on Robin Thompson's contributions to statistics, genetics and animal/plant genetic improvement schemes.}, journal = {Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie}, volume = {136}, number = {4}, pages = {229}, doi = {10.1111/jbg.12416}, pmid = {31247678}, issn = {1439-0388}, mesh = {Animals ; *Genetics ; Plants/*genetics ; *Statistics as Topic ; }, } @article {pmid31204695, year = {2019}, author = {Szabó, AT and Poczai, P}, title = {The emergence of genetics from Festetics' sheep through Mendel's peas to Bateson's chickens.}, journal = {Journal of genetics}, volume = {98}, number = {2}, pages = {}, pmid = {31204695}, issn = {0973-7731}, mesh = {Animals ; Breeding ; Chickens/*genetics ; Genetics/*history ; Genetics, Population ; History, 17th Century ; History, 18th Century ; History, 19th Century ; History, 20th Century ; Humans ; Peas/*genetics ; Sheep/*genetics ; }, abstract = {It is now common knowledge-but also a misbelief-that in 1905 William Bateson coined the term 'genetics' for the first time in his letter to Adam Sedgwick. This important term was already formulated 81 years ago in a paper written by a sheepbreeding noble called Imre (Emmerich) Festetics, who still remains somewhat mysterious even today. The articles written by Festetics summarized the results of a series of lasting and elegant breeding experiments he had conducted on his own property. Selecting the best rams, Festetics had painstakingly crossed and backcrossed his best sheep to reach better wool quality. These experiments later turned out to reveal a better understanding of inheritance outlining genetics as a new branch of natural sciences.}, } @article {pmid31189901, year = {2019}, author = {Hurst, LD}, title = {A century of bias in genetics and evolution.}, journal = {Heredity}, volume = {123}, number = {1}, pages = {33-43}, pmid = {31189901}, issn = {1365-2540}, support = {ERC-2014-ADG 669207//EC | EC Seventh Framework Programm | FP7 Ideas: European Research Council (FP7-IDEAS-ERC - Specific Programme: "Ideas" Implementing the Seventh Framework Programme of the European Community for Research, Technological Development and Demonstration Activities (2007 to 2013))/International ; }, mesh = {Alleles ; Animals ; *Biological Evolution ; Eukaryotic Cells ; Gene Conversion ; Genetic Fitness ; Genetics/*history ; Heredity/*genetics ; History, 20th Century ; Mammals/genetics ; Models, Genetic ; *Selection, Genetic ; }, abstract = {Mendel proposed that the heritable material is particulate and that transmission of alleles is unbiased. An assumption of unbiased transmission was necessary to show how variation can be preserved in the absence of selection, so overturning an early objection to Darwinism. In the second half of the twentieth century, it was widely recognised that even strongly deleterious alleles can invade if they have strongly biased transmission (i.e. strong segregation distortion). The spread of alleles with distorted segregation can explain many curiosities. More recently, the selectionist-neutralist duopoly was broken by the realisation that biased gene conversion can explain phenomena such as mammalian isochore structures. An initial focus on unbiased transmission in 1919, has thus given way to an interest in biased transmission in 2019. A focus on very weak bias is now possible owing to technological advances, although technical biases may put a limit on resolving power. To understand the relevance of weak bias we could profit from having the concept of the effectively Mendelian allele, a companion to the effectively neutral allele. Understanding the implications of unbiased and biased transmission may, I suggest, be a good way to teach evolution so as to avoid psychological biases.}, } @article {pmid31120326, year = {2019}, author = {Deichmann, U}, title = {From Gregor Mendel to Eric Davidson: Mathematical Models and Basic Principles in Biology.}, journal = {Journal of computational biology : a journal of computational molecular cell biology}, volume = {26}, number = {7}, pages = {637-652}, pmid = {31120326}, issn = {1557-8666}, mesh = {Computer Simulation ; Gene Regulatory Networks ; Genetic Code ; History, 20th Century ; *Models, Biological ; *Models, Theoretical ; }, abstract = {Mathematical models have been widespread in biology since its emergence as a modern experimental science in the 19th century. Focusing on models in developmental biology and heredity, this article (1) presents the properties and epistemological basis of pertinent mathematical models in biology from Mendel's model of heredity in the 19th century to Eric Davidson's model of developmental gene regulatory networks in the 21st; (2) shows that the models differ not only in their epistemologies but also in regard to explicitly or implicitly taking into account basic biological principles, in particular those of biological specificity (that became, in part, replaced by genetic information) and genetic causality. The article claims that models disregarding these principles did not impact the direction of biological research in a lasting way, although some of them, such as D'Arcy Thompson's models of biological form, were widely read and admired and others, such as Turing's models of development, stimulated research in other fields. Moreover, it suggests that successful models were not purely mathematical descriptions or simulations of biological phenomena but were based on inductive, as well as hypothetico-deductive, methodology. The recent availability of large amounts of sequencing data and new computational methodology tremendously facilitates system approaches and pattern recognition in many fields of research. Although these new technologies have given rise to claims that correlation is replacing experimentation and causal analysis, the article argues that the inductive and hypothetico-deductive experimental methodologies have remained fundamentally important as long as causal-mechanistic explanations of complex systems are pursued.}, } @article {pmid31038229, year = {2019}, author = {Wang, M and Xu, S}, title = {Statistics of Mendelian segregation-A mixture model.}, journal = {Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie}, volume = {136}, number = {5}, pages = {341-350}, doi = {10.1111/jbg.12394}, pmid = {31038229}, issn = {1439-0388}, support = {DBI-1458515//National Science Foundation (NSF) Collaborative Research grant/ ; }, mesh = {Animals ; Biological Evolution ; Diploidy ; Humans ; Inbreeding ; *Models, Genetic ; *Models, Statistical ; }, abstract = {Mendel's law of segregation explains why genetic variation can be maintained over time. In diploid organisms, an offspring receives one allele from each parent, not just half of the blended genetic material of the parents. Which of the two alleles is received is purely random. This stochastic process generates genetic variation among members of the same family, called Mendelian segregation variance or within-family variance. In statistics, the genetic value of a quantitative trait for an offspring follows a mixture distribution consisting of the four alleles of the two parents, guided by a Mendelian variable from each parent. The mixture model allows us to partition the total genetic variance into between-family and within-family variances. In the absence of inbreeding, the genetic variance splits half to the between-family variance and half to the within-family variance. With inbreeding, however, the between-family variance is increased at the cost of the within-family variance, leading to a net increase of the total genetic variance. This study defines multiple Mendelian variables and develops a mixture model of quantitative genetics. The phenomenon that allelic variance is maintained over time is guided by "the law of conservation of allelic variance" in biology, which is comparable to "the law of conservation of mass" in physics.}, } @article {pmid30991074, year = {2019}, author = {Lessard, S and Ewens, WJ}, title = {The left-hand side of the Fundamental Theorem of Natural Selection: A reply.}, journal = {Journal of theoretical biology}, volume = {472}, number = {}, pages = {77-83}, doi = {10.1016/j.jtbi.2019.04.014}, pmid = {30991074}, issn = {1095-8541}, mesh = {*Models, Genetic ; *Selection, Genetic ; }, abstract = {In a recent paper, Grafen (2018) discussed the left-hand side in the equation stating Fisher's (1930, 1958) "Fundamental Theorem of Natural Selection" (FTNS). Fisher's original statement of the FTNS is, in effect, "The rate of increase in fitness of any organism is equal to its genetic variance in fitness at that time" with the rate of increase in fitness understood as the one "due to all changes in gene ratios" (Fisher, 1930, p. 35). For purposes of exposition, Grafen (2018) considered what is today called the analogous discrete-time model, and restated the FTNS on p. 181 as "The increase in population [mean fitness] due to changes in gene frequencies [is equal to the] additive genetic variance in fitness [divided by the] mean fitness". Allowing for the fact that Grafen's statement of the FTNS relates to a discrete-time model, his statement is in effect a discrete-time version of Fisher's. It has however been widely accepted for many years, ever since Price's (1972) deep analysis of the FTNS, that Fisher's wording does not correctly describe the content of the FTNS. The same is therefore true of Grafen's statement. The confusion caused by these misstatements is unfortunate and adds to a continuing misunderstanding of the FTNS, whose source can also be found in Fisher's (1941) own explanation. Our purpose is to review the detailed analysis of the calculations leading to the FTNS to clarify the points at issue.}, } @article {pmid30967441, year = {2019}, author = {Visscher, PM and Goddard, ME}, title = {From R.A. Fisher's 1918 Paper to GWAS a Century Later.}, journal = {Genetics}, volume = {211}, number = {4}, pages = {1125-1130}, pmid = {30967441}, issn = {1943-2631}, mesh = {Animals ; Genetics/*history ; Genome-Wide Association Study/history/*methods ; History, 20th Century ; History, 21st Century ; Humans ; }, abstract = {The genetics and evolution of complex traits, including quantitative traits and disease, have been hotly debated ever since Darwin. A century ago, a paper from R.A. Fisher reconciled Mendelian and biometrical genetics in a landmark contribution that is now accepted as the main foundation stone of the field of quantitative genetics. Here, we give our perspective on Fisher's 1918 paper in the context of how and why it is relevant in today's genome era. We mostly focus on human trait variation, in part because Fisher did so too, but the conclusions are general and extend to other natural populations, and to populations undergoing artificial selection.}, } @article {pmid30554378, year = {2019}, author = {Hoßfeld, U and Levit, GS and Watts, E}, title = {100 Years of phenogenetics: Valentin Haecker and his examination of the phenotype.}, journal = {Molecular genetics and genomics : MGG}, volume = {294}, number = {2}, pages = {445-456}, pmid = {30554378}, issn = {1617-4623}, mesh = {Genetics/*history ; History, 20th Century ; Humans ; Mutation/genetics ; *Phenotype ; }, abstract = {Following the 'rediscovery' of Mendel's work around 1900 the study of genetics grew rapidly and multiple new inheritance theories quickly emerged such as Hugo de Vries' "Mutation Theory" (1901) and the "Boveri-Sutton Chromosome Theory" (1902). Mendel's work also caught the attention of the German geneticist Valentin Haecker, yet he was generally dissatisfied the simplicity of Mendelian genetics as he believed that inheritance and the expression of various characteristics appeared to be much more complex than the proposed "on-off hypotheses". Haecker's primary objection was that Mendelian-based theories still failed to bridge the gap between hereditary units and phenotypic traits. Haecker thus set out to bridge this gap in his research program, which he called Phänogenetik ("phenogenetics"). He outlined his work in a special study "Entwicklungsgeschichtliche Eigenschaftsanalyse (Phänogenetik)" in 1918. 2018 thus marks the 100th anniversary of Haecker's seminal publication, which was devoted to the analysis of the phenotype and highlighted the true complexity of heredity. This article takes a specific look at Haecker and his work, while also illustrating how this often forgotten scientist influenced the field of genetics and other scientists.}, } @article {pmid30298598, year = {2018}, author = {Elston, RC}, title = {Fisher's influence on me.}, journal = {Genetic epidemiology}, volume = {42}, number = {8}, pages = {849-853}, doi = {10.1002/gepi.22165}, pmid = {30298598}, issn = {1098-2272}, mesh = {History, 20th Century ; History, 21st Century ; Humans ; Models, Genetic ; *Molecular Epidemiology ; Pedigree ; Probability ; }, abstract = {This is the 100th year anniversary of Fisher's 1918 paper "The correlation between relatives on the supposition of Mendelian inheritance" (Transactions of the Royal Society of Edinburgh 1918, 52 pp 899-438). Fisher's work has had a strong influence on today's genetic epidemiology and this brief autobiographical note highlights a few of the ways his influence on me has affected the field. Although I once took a course of lectures from Fisher, it was mainly his writings that influenced my statistical thinking. Not only did the concept of maximum likelihood appeal to me, but also the concepts of interclass and intraclass correlations, discriminant analysis, and transforming semiquantitative scores to minimize interactions-all topics I first learned about from the 11th edition of his book on Statistical Methods for Research Workers. This, together with a few serendipitous events that shaped my career, had a large influence on me and hence also on the field of genetic epidemiology.}, } @article {pmid30287513, year = {2018}, author = {van Dijk, PJ and Weissing, FJ and Ellis, THN}, title = {How Mendel's Interest in Inheritance Grew out of Plant Improvement.}, journal = {Genetics}, volume = {210}, number = {2}, pages = {347-355}, pmid = {30287513}, issn = {1943-2631}, mesh = {Genetics/*history ; History, 19th Century ; Plant Breeding/*history/methods ; Plant Diseases ; }, abstract = {Despite the fact that Gregor Mendel is generally respected as the founder of genetics, little is known about the origin of and motivation for his revolutionary work. No primary sources are known that discuss his work during the period of his pea crossing experiments. Here, we report on two previously unknown interconnected local newspaper articles about Mendel's work that predate his famous Pisum lectures by 4 years. These articles describe Mendel as a plant breeder and a horticulturist. We argue that Mendel's initial interests concerned crop improvement, but that with time he became more interested in fundamental questions about inheritance, fertilization, and natural hybridization.}, } @article {pmid30256531, year = {2018}, author = {Choi, KR and Ryu, JY and Lee, SY}, title = {Revisiting Statistical Design and Analysis in Scientific Research.}, journal = {Small (Weinheim an der Bergstrasse, Germany)}, volume = {14}, number = {40}, pages = {e1802604}, doi = {10.1002/smll.201802604}, pmid = {30256531}, issn = {1613-6829}, abstract = {Statistics is essential to design experiments and interpret experimental results. Inappropriate use of the statistical analysis, however, often leads to a wrong conclusion. This concept article revisits basic concepts of statistics and provides a brief guideline of applying the statistical analysis for scientific research from designing experiments to analyzing and presenting the data.}, } @article {pmid30206998, year = {2018}, author = {Thompson, EA}, title = {From 1949 to 2018: R. A. Fisher's Theory of Junctions.}, journal = {Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie}, volume = {135}, number = {5}, pages = {335-336}, doi = {10.1111/jbg.12351}, pmid = {30206998}, issn = {1439-0388}, mesh = {Animals ; *Breeding ; Genomics ; *Models, Genetic ; *Statistics as Topic ; }, } @article {pmid30122232, year = {2018}, author = {Liu, Y}, title = {Darwin and Mendel: The Historical Connection.}, journal = {Advances in genetics}, volume = {102}, number = {}, pages = {1-25}, doi = {10.1016/bs.adgen.2018.05.006}, pmid = {30122232}, issn = {0065-2660}, mesh = {Animals ; *Biological Evolution ; Plants/genetics ; Selection, Genetic ; }, abstract = {Darwin carried out a host of carefully controlled cross- and self-pollination experiments in a wide variety of plants, and made a significant and imperishable contribution to the knowledge of hybridization. He not only clearly described the phenomenon of what he called prepotency and what we now call dominance or Mendelian inheritance, but also explained it by his Pangenesis. Recent discovery of small RNAs acting as dominance modifiers supports his Pangenesis regarding the control of prepotency by gemmules. Historical studies show that there is striking evidence that Mendel read Darwin's The Origin of Species, which had influenced his paper presented in 1865 and published in 1866. Although Mendel's paper has been considered a classic in the history of genetics, it generated much controversy since its rediscovery. Mendel's position as the father of genetics is being seriously challenged. Darwin's main contribution to genetics was the collection of a tremendous amount of genetic data, and the formulation of a comprehensive genetical theory for their explanation. Over the past 150 years, however, Darwin's legacy to genetics, particularly his Pangenesis, has not been considered seriously by most geneticists. It is proposed that Darwin should have been regarded as one of the most important pioneers in genetics.}, } @article {pmid30102600, year = {2018}, author = {Deznabi, I and Mobayen, M and Jafari, N and Tastan, O and Ayday, E}, title = {An Inference Attack on Genomic Data Using Kinship, Complex Correlations, and Phenotype Information.}, journal = {IEEE/ACM transactions on computational biology and bioinformatics}, volume = {15}, number = {4}, pages = {1333-1343}, doi = {10.1109/TCBB.2017.2709740}, pmid = {30102600}, issn = {1557-9964}, mesh = {Databases, Genetic ; *Family ; *Genetic Privacy ; Genomics/*methods ; Humans ; *Phenotype ; }, abstract = {Individuals (and their family members) share (partial) genomic data on public platforms. However, using special characteristics of genomic data, background knowledge that can be obtained from the Web, and family relationship between the individuals, it is possible to infer the hidden parts of shared (and unshared) genomes. Existing work in this field considers simple correlations in the genome (as well as Mendel's law and partial genomes of a victim and his family members). In this paper, we improve the existing work on inference attacks on genomic privacy. We mainly consider complex correlations in the genome by using an observable Markov model and recombination model between the haplotypes. We also utilize the phenotype information about the victims. We propose an efficient message passing algorithm to consider all aforementioned background information for the inference. We show that the proposed framework improves inference with significantly less information compared to existing work.}, } @article {pmid30012325, year = {2018}, author = {Assimes, TL and de Vries, PS}, title = {Making the Most out of Mendel's Laws in Complex Coronary Artery Disease.}, journal = {Journal of the American College of Cardiology}, volume = {72}, number = {3}, pages = {311-313}, doi = {10.1016/j.jacc.2018.05.016}, pmid = {30012325}, issn = {1558-3597}, mesh = {Chemokine CXCL12 ; *Coronary Artery Disease ; Humans ; Mendelian Randomization Analysis ; }, } @article {pmid29923466, year = {2018}, author = {Endersby, J}, title = {A visit to Biotopia: genre, genetics and gardening in the early twentieth century.}, journal = {British journal for the history of science}, volume = {51}, number = {3}, pages = {423-455}, doi = {10.1017/S000708741800047X}, pmid = {29923466}, issn = {1474-001X}, abstract = {The early decades of the twentieth century were marked by widespread optimism about biology and its ability to improve the world. A major catalyst for this enthusiasm was new theories about inheritance and evolution (particularly Hugo de Vries's mutation theory and Mendel's newly rediscovered ideas). In Britain and the USA particularly, an astonishingly diverse variety of writers (from elite scientists to journalists and writers of fiction) took up the task of interpreting these new biological ideas, using a wide range of genres to help their fellow citizens make sense of biology's promise. From these miscellaneous writings a new and distinctive kind of utopianism emerged - the biotopia. Biotopias offered the dream of a perfect, post-natural world, or the nightmare of violated nature (often in the same text), but above all they conveyed a sense that biology was - for the first time - offering humanity unprecedented control over life. Biotopias often visualized the world as a garden perfected for human use, but this vision was tinged with gendered violence, as it became clear that realizing it entailed dispossessing, or even killing, 'Mother Nature'. Biotopian themes are apparent in journalism, scientific reports and even textbooks, and these non-fiction sources shared many characteristics with intentionally prophetic or utopian fictions. Biotopian themes can be traced back and forth across the porous boundaries between popular and elite writing, showing how biology came to function as public culture. This analysis reveals not only how the historical significance of science is invariably determined outside the scientific world, but also that the ways in which biology was debated during this period continue to characterize today's debates over new biological breakthroughs.}, } @article {pmid29878491, year = {2018}, author = {Toro, MA and Mäki-Tanila, A}, title = {Some intriguing questions on Fisher's ideas about dominance.}, journal = {Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie}, volume = {135}, number = {3}, pages = {149-150}, doi = {10.1111/jbg.12332}, pmid = {29878491}, issn = {1439-0388}, mesh = {*Biological Evolution ; *Genes, Dominant ; Genetics, Population ; Humans ; *Models, Biological ; *Selection, Genetic ; }, } @article {pmid29663716, year = {2018}, author = {Elloumi-Zghal, H and Chaabouni Bouhamed, H}, title = {Genetics and genomic medicine in Tunisia.}, journal = {Molecular genetics & genomic medicine}, volume = {6}, number = {2}, pages = {134-159}, pmid = {29663716}, issn = {2324-9269}, mesh = {Delivery of Health Care/trends ; Genetics/history/*trends ; Genomics/history/*trends ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Humans ; Medicine/trends ; Tunisia/epidemiology ; }, } @article {pmid29575103, year = {2018}, author = {Hill, WG}, title = {Contributions to quantitative genetic models by Yule and by Weinberg prior to Fisher 1918.}, journal = {Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie}, volume = {135}, number = {2}, pages = {93-94}, doi = {10.1111/jbg.12320}, pmid = {29575103}, issn = {1439-0388}, mesh = {Algorithms ; Animals ; Biological Evolution ; Genetic Speciation ; Genetics/*history ; History, 19th Century ; Humans ; *Models, Genetic ; Models, Statistical ; }, } @article {pmid29076554, year = {2017}, author = {Thorp, JM}, title = {Contributions and Limits of Epidemiology in Societal Controversy.}, journal = {Paediatric and perinatal epidemiology}, volume = {31}, number = {6}, pages = {493-494}, doi = {10.1111/ppe.12419}, pmid = {29076554}, issn = {1365-3016}, } @article {pmid29039112, year = {2018}, author = {Button, C}, title = {James Cossar Ewart and the Origins of the Animal Breeding Research Department in Edinburgh, 1895-1920.}, journal = {Journal of the history of biology}, volume = {51}, number = {3}, pages = {445-477}, pmid = {29039112}, issn = {1573-0387}, support = {200428/Z/15/Z//Wellcome Trust/United Kingdom ; }, mesh = {Breeding/*history ; Genetics/*history ; History, 19th Century ; History, 20th Century ; Scotland ; Universities/*history ; }, abstract = {In 1919 the Animal Breeding Research Department was established in Edinburgh. This Department, later renamed the Institute of Animal Genetics, forged an international reputation, eventually becoming the centrepiece of a cluster of new genetics research units and institutions in Edinburgh after the Second World War. Yet despite its significance for institutionalising animal genetics research in the UK, the origins and development of the Department have not received as much scholarly attention as its importance warrants. This paper sheds new light on Edinburgh's place in early British genetics by drawing upon recently catalogued archival sources including the papers of James Cossar Ewart, Regius Professor of Natural History at the University of Edinburgh between 1882 and 1927. Although presently a marginal figure in genetics historiography, Ewart established two sites for experimental animal breeding work between 1895 and 1911 and played a central role in the founding of Britain's first genetics lectureship, also in 1911. These early efforts helped to secure government funding in 1913. However, a combination of the First World War, bureaucratic problems and Ewart's personal ambitions delayed the creation of the Department and the appointment of its director by another six years. This paper charts the institutionalisation of animal breeding and genetics research in Edinburgh within the wider contexts of British genetics and agriculture in the early twentieth century.}, } @article {pmid29025109, year = {2019}, author = {Edwards, AWF}, title = {Commentary: On R. A. Fisher's paper 'The causes of human variability', 1918.}, journal = {International journal of epidemiology}, volume = {48}, number = {1}, pages = {12-13}, doi = {10.1093/ije/dyx184}, pmid = {29025109}, issn = {1464-3685}, } @article {pmid28874451, year = {2017}, author = {Zhang, H and Chen, W and Sun, K}, title = {Mendelism: New Insights from Gregor Mendel's Lectures in Brno.}, journal = {Genetics}, volume = {207}, number = {1}, pages = {1-8}, pmid = {28874451}, issn = {1943-2631}, mesh = {Austria-Hungary ; Congresses as Topic/history ; Genetics/*history ; History, 19th Century ; Peas/genetics ; Periodicals as Topic/*history ; Societies, Scientific/history ; }, abstract = {Interpretation of Gregor Mendel's work has previously been based on study of his published paper "Experiments in Plant Hybridization." In contrast, the lectures that he gave preceding publication of this work have been largely neglected for more than 150 years. Here, we report on and interpret the content of Mendel's previous two lectures, as they were reported in a local newspaper. We comprehensively reference both the text of his paper and the historical background of his experiments. Our analysis shows that while Mendel had inherited the traditional research program on interspecific hybridization in plants, he introduced the novel method of ratio analysis for representing the variation of unit-characters among offspring of hybrids. His aim was to characterize and explain the developmental features of the distributional pattern of unit-characters in two series of hybrid experiments, using self-crosses and backcrosses with parents. In doing so, he not only answered the question of what the unit-characters were and the nature of their hierarchical classification, but also successfully inferred the numerical principle of unit-character transmission from generation to generation. He also established the nature of the composition and behaviors of reproductive cells from one generation to the next. Here we highlight the evidence from Mendel's lectures, clearly announcing that he had discovered the general law of cross-generation transmission of unit-characters through reproductive cells containing unit-factors. The recovered content of these previous lectures more accurately describes the work he performed with his garden peas than his published paper and shows how he first presented it in Brno. It is thus an invaluable resource for understanding the origin of the science of genetics.}, } @article {pmid28829287, year = {2017}, author = {Shropshire, JD and Rokas, A}, title = {Correction: Heredity: The gene family that cheats Mendel.}, journal = {eLife}, volume = {6}, number = {}, pages = {}, doi = {10.7554/eLife.31295}, pmid = {28829287}, issn = {2050-084X}, } @article {pmid28764648, year = {2017}, author = {Carpenter, MA and Shaw, M and Cooper, RD and Frew, TJ and Butler, RC and Murray, SR and Moya, L and Coyne, CJ and Timmerman-Vaughan, GM}, title = {Association mapping of starch chain length distribution and amylose content in pea (Pisum sativum L.) using carbohydrate metabolism candidate genes.}, journal = {BMC plant biology}, volume = {17}, number = {1}, pages = {132}, pmid = {28764648}, issn = {1471-2229}, mesh = {Alleles ; Amylopectin/metabolism ; Amylose/*metabolism ; Carbohydrate Conformation ; Carbohydrate Metabolism/*genetics ; *Genes, Plant ; Peas/genetics/*metabolism ; Polymorphism, Genetic ; Starch/chemistry/*metabolism ; }, abstract = {BACKGROUND: Although starch consists of large macromolecules composed of glucose units linked by α-1,4-glycosidic linkages with α-1,6-glycosidic branchpoints, variation in starch structural and functional properties is found both within and between species. Interest in starch genetics is based on the importance of starch in food and industrial processes, with the potential of genetics to provide novel starches. The starch metabolic pathway is complex but has been characterized in diverse plant species, including pea.

RESULTS: To understand how allelic variation in the pea starch metabolic pathway affects starch structure and percent amylose, partial sequences of 25 candidate genes were characterized for polymorphisms using a panel of 92 diverse pea lines. Variation in the percent amylose composition of extracted seed starch and (amylopectin) chain length distribution, one measure of starch structure, were characterized for these lines. Association mapping was undertaken to identify polymorphisms associated with the variation in starch chain length distribution and percent amylose, using a mixed linear model that incorporated population structure and kinship. Associations were found for polymorphisms in seven candidate genes plus Mendel's r locus (which conditions the round versus wrinkled seed phenotype). The genes with associated polymorphisms are involved in the substrate supply, chain elongation and branching stages of the pea carbohydrate and starch metabolic pathways.

CONCLUSIONS: The association of polymorphisms in carbohydrate and starch metabolic genes with variation in amylopectin chain length distribution and percent amylose may help to guide manipulation of pea seed starch structural and functional properties through plant breeding.}, } @article {pmid28583356, year = {2017}, author = {Rosales, A}, title = {Theories that narrate the world: Ronald A. Fisher's mass selection and Sewall Wright's shifting balance.}, journal = {Studies in history and philosophy of science}, volume = {62}, number = {}, pages = {22-30}, doi = {10.1016/j.shpsa.2017.03.007}, pmid = {28583356}, issn = {0039-3681}, abstract = {Theories are composed of multiple interacting components. I argue that some theories have narratives as essential components, and that narratives function as integrative devices of the mathematical components of theories. Narratives represent complex processes unfolding in time as a sequence of stages, and hold the mathematical elements together as pieces in the investigation of a given process. I present two case studies from population genetics: R. A. Fisher's "mas selection" theory, and Sewall Wright's shifting balance theory. I apply my analysis to an early episode of the "R. A. Fisher - Sewall Wright controversy."}, } @article {pmid27927898, year = {2016}, author = {van Dijk, PJ and Ellis, TH}, title = {The Full Breadth of Mendel's Genetics.}, journal = {Genetics}, volume = {204}, number = {4}, pages = {1327-1336}, pmid = {27927898}, issn = {1943-2631}, mesh = {Correspondence as Topic ; Genetics/*history ; History, 19th Century ; }, abstract = {Gregor Mendel's "Experiments on Plant Hybrids" (1865/1866), published 150 years ago, is without doubt one of the most brilliant works in biology. Curiously, Mendel's later studies on Hieracium (hawkweed) are usually seen as a frustrating failure, because it is assumed that they were intended to confirm the segregation ratios he found in Pisum Had this been his intention, such a confirmation would have failed, since, unknown to Mendel, Hieracium species mostly reproduce by means of clonal seeds (apomixis). Here we show that this assumption arises from a misunderstanding that could be explained by a missing page in Mendel's first letter to Carl Nägeli. Mendel's writings clearly indicate his interest in "constant hybrids," hybrids which do not segregate, and which were "essentially different" from "variable hybrids" such as in Pisum After the Pisum studies, Mendel worked mainly on Hieracium for 7 years where he found constant hybrids and some great surprises. He also continued to explore variable hybrids; both variable and constant hybrids were of interest to Mendel with respect to inheritance and to species evolution. Mendel considered that their similarities and differences might provide deep insights and that their differing behaviors were "individual manifestations of a higher more fundamental law."}, } @article {pmid27844115, year = {2016}, author = {Vollmann, J and Buerstmayr, H}, title = {From phenotype to genotype: celebrating 150 years of Mendelian genetics in plant breeding research.}, journal = {TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik}, volume = {129}, number = {12}, pages = {2237-2239}, pmid = {27844115}, issn = {1432-2242}, mesh = {Crosses, Genetic ; Genetic Research ; Genetics/*history ; Genotype ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Phenotype ; *Plant Breeding ; Plants/*genetics ; }, } @article {pmid27754546, year = {2016}, author = {Lynøe, N}, title = {[The N-rays were imagined, but the research was no fraud].}, journal = {Lakartidningen}, volume = {113}, number = {}, pages = {}, pmid = {27754546}, issn = {1652-7518}, mesh = {Genetics/*history ; History, 19th Century ; History, 20th Century ; Humans ; Observer Variation ; *Radiation ; Research Design/*standards ; Scientific Misconduct/*history ; }, } @article {pmid27738921, year = {2017}, author = {Simunek, MV and Mielewczik, M and Levit, GS and Hossfeld, U}, title = {Armin von Tschermak-Seysenegg (1870-1952): Physiologist and Co-'Rediscoverer' of Mendel's laws.}, journal = {Theory in biosciences = Theorie in den Biowissenschaften}, volume = {136}, number = {1-2}, pages = {59-67}, pmid = {27738921}, issn = {1611-7530}, mesh = {Austria-Hungary ; Botany/*history ; Genetic Variation ; Genetics/*history ; History, 19th Century ; History, 20th Century ; Plant Physiological Phenomena ; Plants ; }, abstract = {The 'rediscovery' of Mendel's laws in 1900 was a turning point in modern research of heredity/genetics. According to the traditional view, adopted and fostered by many textbooks of genetics, Mendel's principles were presented in the first half of 1900 simultaneously and independently by three biologists (H. de Vries, C. Correns, E. v. Tschermak-Seysenegg). Having thus laid the foundations of further development, the 'rediscovery' continues to attract considerable interest. Since the 1950s, however, serious questions arose concerning both the chronology and specific conceptual achievement of the scientists involved. Not only the independence but also parallelism was analysed in the context of individual research programmes of these three scholars. The youngest of them, Erich v. Tschermak-Seysenegg, was even excluded from the list of 'rediscoverers'. The aim of this paper is to use new archival evidence and approximate the contribution of the physiologist and ophthalmologist Armin von Tschermak-Seysenegg (1870-1952) to the events of 1900 and 1901.}, } @article {pmid27730306, year = {2017}, author = {Hoßfeld, U and Jacobsen, HJ and Plass, C and Brors, B and Wackernagel, W}, title = {150 years of Johann Gregor Mendel's "Versuche über Pflanzen-Hybriden".}, journal = {Molecular genetics and genomics : MGG}, volume = {292}, number = {1}, pages = {1-3}, pmid = {27730306}, issn = {1617-4623}, mesh = {Animals ; Genetics/*history ; Genomics/history ; History, 19th Century ; Humans ; Molecular Biology/history ; Plants/genetics ; Precision Medicine ; }, } @article {pmid27729492, year = {2016}, author = {Abbott, S and Fairbanks, DJ}, title = {Experiments on Plant Hybrids by Gregor Mendel.}, journal = {Genetics}, volume = {204}, number = {2}, pages = {407-422}, doi = {10.1534/genetics.116.195198}, pmid = {27729492}, issn = {1943-2631}, mesh = {Genetics ; History, 19th Century ; Inheritance Patterns/*genetics ; Peas/*genetics ; Plants ; }, } @article {pmid27729491, year = {2016}, author = {Fairbanks, DJ and Abbott, S}, title = {Darwin's Influence on Mendel: Evidence from a New Translation of Mendel's Paper.}, journal = {Genetics}, volume = {204}, number = {2}, pages = {401-405}, pmid = {27729491}, issn = {1943-2631}, mesh = {Biological Evolution ; Genetics/*history ; History, 19th Century ; *Selection, Genetic ; }, abstract = {Gregor Mendel's classic paper, Versuche über Pflanzen-Hybriden (Experiments on Plant Hybrids), was published in 1866, hence 2016 is its sesquicentennial. Mendel completed his experiments in 1863 and shortly thereafter began compiling the results and writing his paper, which he presented in meetings of the Natural Science Society in Brünn in February and March of 1865. Mendel owned a personal copy of Darwin's Origin of Species, a German translation published in 1863, and it contains his marginalia. Its publication date indicates that Mendel's study of Darwin's book could have had no influence while he was conducting his experiments but its publication date coincided with the period of time when he was preparing his paper, making it possible that Darwin's writings influenced Mendel's interpretations and theory. Based on this premise, we prepared a Darwinized English translation of Mendel's paper by comparing German terms Mendel employed with the same terms in the German translation of Origin of Species in his possession, then using Darwin's counterpart English words and phrases as much as possible in our translation. We found a substantially higher use of these terms in the final two (10th and 11th) sections of Mendel's paper, particularly in one key paragraph, where Mendel reflects on evolutionary issues, providing strong evidence of Darwin's influence on Mendel.}, } @article {pmid27717955, year = {2016}, author = {Smýkal, P and K Varshney, R and K Singh, V and Coyne, CJ and Domoney, C and Kejnovský, E and Warkentin, T}, title = {From Mendel's discovery on pea to today's plant genetics and breeding : Commemorating the 150th anniversary of the reading of Mendel's discovery.}, journal = {TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik}, volume = {129}, number = {12}, pages = {2267-2280}, pmid = {27717955}, issn = {1432-2242}, mesh = {Chromosome Mapping ; Genetic Variation ; Genetics/*history ; Genome, Plant ; Genomics ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Peas/*genetics ; Phenotype ; *Plant Breeding ; Plants, Genetically Modified/genetics ; Quantitative Trait Loci ; Selection, Genetic ; }, abstract = {KEY MESSAGE: This work discusses several selected topics of plant genetics and breeding in relation to the 150th anniversary of the seminal work of Gregor Johann Mendel. In 2015, we celebrated the 150th anniversary of the presentation of the seminal work of Gregor Johann Mendel. While Darwin's theory of evolution was based on differential survival and differential reproductive success, Mendel's theory of heredity relies on equality and stability throughout all stages of the life cycle. Darwin's concepts were continuous variation and "soft" heredity; Mendel espoused discontinuous variation and "hard" heredity. Thus, the combination of Mendelian genetics with Darwin's theory of natural selection was the process that resulted in the modern synthesis of evolutionary biology. Although biology, genetics, and genomics have been revolutionized in recent years, modern genetics will forever rely on simple principles founded on pea breeding using seven single gene characters. Purposeful use of mutants to study gene function is one of the essential tools of modern genetics. Today, over 100 plant species genomes have been sequenced. Mapping populations and their use in segregation of molecular markers and marker-trait association to map and isolate genes, were developed on the basis of Mendel's work. Genome-wide or genomic selection is a recent approach for the development of improved breeding lines. The analysis of complex traits has been enhanced by high-throughput phenotyping and developments in statistical and modeling methods for the analysis of phenotypic data. Introgression of novel alleles from landraces and wild relatives widens genetic diversity and improves traits; transgenic methodologies allow for the introduction of novel genes from diverse sources, and gene editing approaches offer possibilities to manipulate gene in a precise manner.}, } @article {pmid27695890, year = {2016}, author = {Bicknell, R and Catanach, A and Hand, M and Koltunow, A}, title = {Seeds of doubt: Mendel's choice of Hieracium to study inheritance, a case of right plant, wrong trait.}, journal = {TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik}, volume = {129}, number = {12}, pages = {2253-2266}, pmid = {27695890}, issn = {1432-2242}, mesh = {Apomixis/*genetics ; Asteraceae/*genetics ; Genetics/*history ; History, 19th Century ; *Hybridization, Genetic ; Inheritance Patterns ; Phenotype ; Plant Breeding ; }, abstract = {KEY MESSAGE: In this review, we explore Gregor Mendel's hybridization experiments with Hieracium , update current knowledge on apomictic reproduction and describe approaches now being used to develop true-breeding hybrid crops. From our perspective, it is easy to conclude that Gregor Mendel's work on pea was insightful, but his peers clearly did not regard it as being either very convincing or of much importance. One apparent criticism was that his findings only applied to pea. We know from a letter he wrote to Carl von Nägeli, a leading botanist, that he believed he needed to "verify, with other plants, the results obtained with Pisum". For this purpose, Mendel adopted Hieracium subgenus Pilosella, a phenotypically diverse taxon under botanical study at the time. What Mendel could not have known, however, is that the majority of these plants are not sexual plants like pea, but instead are facultatively apomictic. In these forms, the majority of seed arises asexually, and such progeny are, therefore, clones of the maternal parent. Mendel obtained very few hybrids in his Hieracium crosses, yet we calculate that he probably emasculated in excess of 5000 Hieracium florets to even obtain the numbers he did. Despite that effort, he was perplexed by the results, and they ultimately led him to conclude that "the hybrids of Hieracium show a behaviour exactly opposite to those of Pisum". Apomixis is now a topic of intense research interest, and in an ironic twist of history, Hieracium subgenus Pilosella has been developed as a molecular model to study this trait. In this paper, we explore further Mendel's hybridization experiments with Hieracium, update current knowledge on apomictic reproduction and describe approaches now being used to develop true-breeding hybrid crops.}, } @article {pmid27578843, year = {2016}, author = {Weeden, NF}, title = {Are Mendel's Data Reliable? The Perspective of a Pea Geneticist.}, journal = {The Journal of heredity}, volume = {107}, number = {7}, pages = {635-646}, doi = {10.1093/jhered/esw058}, pmid = {27578843}, issn = {1465-7333}, mesh = {*Genetics ; *Heredity ; *Inheritance Patterns ; Models, Genetic ; Peas/*genetics ; Phenotype ; }, abstract = {Mendel's data exhibit remarkable agreement to the ratios he predicted. In this article, alternative explanations for this close agreement (that inheritance in pea does not conform to the standard statistical model, that data were omitted, that ambiguous data were categorized to better match predicted ratios, and that some data were deliberately falsified) are tested using approaches that are designed to distinguish between these alternatives. The possibility that garden pea (Pisum sativum L.) naturally produces segregation ratios more closely matching Mendelian expectations than predicted by statistical models is rejected. Instead the opposite is found to be the case, making Mendel's results even more remarkable. Considerable evidence is introduced that Mendel omitted some of his experimental results, but this alternative cannot adequately explain the low average deviation from expectations that is characteristic of the segregation data he presented. An underlying bias in Mendel's data favoring the predicted ratio is present, but my analysis could not clearly determine whether the bias was caused by misclassifying ambiguous phenotypes or deliberate falsification of the results. A number of Mendel's statements are argued to be unrealistic in terms of practical pea genetics, suggesting that his text does not represent a strictly accurate description of his experimental methods. Mendel's article is probably best regarded as his attempt to present his model in a simple and convincing format with a minimum of additional details that might obscure his message.}, } @article {pmid29369563, year = {2016}, author = {Traykov, M and Trenchev, I}, title = {Mathematical models in genetics.}, journal = {Genetika}, volume = {52}, number = {9}, pages = {1089-1096}, doi = {10.7868/s0016675816080130}, pmid = {29369563}, issn = {0016-6758}, mesh = {Animals ; Breeding ; Genetic Loci ; *Models, Genetic ; Plant Breeding ; Plants/*genetics ; }, abstract = {In this study, we present some of the basic ideas of population genetics. The founders of population genetics are R.A. Fisher, S. Wright, and J. B.S. Haldane. They, not only developed almost all the basic theory associated with genetics, but they also initiated multiple experiments in support of their theories. One of the first significant insights, which are a result of the Hardy–Weinberg law, is Mendelian inheritance preserves genetic variation on which the natural selection acts. We will limit to simple models formulated in terms of differential equations. Some of those differential equations are nonlinear and thus emphasize issues such as the stability of the fixed points and time scales on which those equations operate. First, we consider the classic case when selection acts on diploid locus at which wу can get arbitrary number of alleles. Then, we consider summaries that include recombination and selection at multiple loci. Also, we discuss the evolution of quantitative traits. In this case, the theory is formulated in respect of directly measurable quantities. Special cases of this theory have been successfully used for many decades in plants and animals breeding.}, } @article {pmid27565485, year = {2016}, author = {Wink, K and Otte, A}, title = {[Serendipities in medicine].}, journal = {MMW Fortschritte der Medizin}, volume = {158 Suppl 5}, number = {}, pages = {14-18}, doi = {10.1007/s15006-016-8608-z}, pmid = {27565485}, issn = {1438-3276}, mesh = {*Medicine ; Probability ; }, abstract = {Coincidences accompany our lives. This paper shows to which extent serendipity plays a role in important discoveries and developments in medicine. These include, among others, Mendel's laws, the determination of the human chromosome number, the discovery of DNA by Watson and Crick, the PAP test, or the discovery of X-rays and radioactivity. But also and especially in pharmacology, there are many examples of serendipity. Some go closely with serendipities in the discovery of bacteriology.}, } @article {pmid27504257, year = {2016}, author = {Cohen, JI and Loskutov, IG}, title = {Exploring the nature of science through courage and purpose: a case study of Nikolai Vavilov and plant biodiversity.}, journal = {SpringerPlus}, volume = {5}, number = {1}, pages = {1159}, pmid = {27504257}, issn = {2193-1801}, abstract = {INTRODUCTION: Historical biographies facilitate teaching the 'nature of science'. This case study focuses on how Nikolai Vavilov's unrelenting sense of purpose, courage, and charismatic personality was maintained during violent revolutionary change in Russia.

CASE DESCRIPTION: The rediscovery of Gregor Mendel's laws of inheritance provided Vavilov with a scientific foundation for crop improvement, this foundation was later bolstered by Vavilov's personal drive to conserve plant biodiversity. As he advanced theories and pragmatic approaches for genetic improvement and conservation of plants, political leaders in Russian came to reject Mendel's principles and eventually Vavilov's work.

DISCUSSION AND EVALUATION: This rejection occurred because Joseph Stalin was desperate for a quick remedy to the famine and suffering from forced collective agriculture. Vavilov's work continued, modernizing Russian crop research while inspiring other scientists to save seeds stored in the world's first gene bank. Three themes illustrating the nature of science help examine Vavilov's life: explaining natural phenomena, uncompromising human endeavor, and revising scientific knowledge.

CONCLUSIONS: The case study concludes with four questions to stimulate student inquiry and self-guided research. They also deepen student understanding of Vavilov's personal sacrifices to ensure use and conservation of plant biodiversity.}, } @article {pmid27337331, year = {2016}, author = {Torres, TT}, title = {Genetics teaching: Carry on celebrating Mendel's legacy.}, journal = {Nature}, volume = {534}, number = {7608}, pages = {475}, pmid = {27337331}, issn = {1476-4687}, mesh = {Biology/*education/*trends ; Curriculum/*trends ; Humans ; Students/*psychology ; }, } @article {pmid27325060, year = {2016}, author = {Paleček, P}, title = {Vítězslav Orel (1926-2015): Gregor Mendel's biographer and the rehabilitation of genetics in the Communist Bloc.}, journal = {History and philosophy of the life sciences}, volume = {38}, number = {3}, pages = {4}, doi = {10.1007/s40656-016-0104-3}, pmid = {27325060}, issn = {0391-9714}, mesh = {*Biographies as Topic ; Communism/history ; Czechoslovakia ; Genetics/*history ; History, 20th Century ; History, 21st Century ; }, abstract = {At almost 90 years of age, we have lost the author of the founding historical works on Johann Gregor Mendel. Vítězslav Orel served for almost 30 years as the editor of the journal Folia Mendeliana. His work was beset by the wider problems associated with Mendel's recognition in the Communist Bloc, and by the way in which narratives of the history of science could be co-opted into the service of Cold War and post-Cold War political agendas. Orel played a key role in the organization of the Mendel symposium of 1965 in Brno, and has made a strong contribution to the rehabilitation of genetics generally, and to championing the work of Johann Gregor Mendel in particular. With Jaroslav Kříženecký, he cofounded the Mendelianum in Brno, which for decades has served as an intellectual bridge between the East and West. Orel's involvement with this institution exposed him to dangers both during and after the Cold War.}, } @article {pmid27263362, year = {2016}, author = {Gayon, J}, title = {From Mendel to epigenetics: History of genetics.}, journal = {Comptes rendus biologies}, volume = {339}, number = {7-8}, pages = {225-230}, doi = {10.1016/j.crvi.2016.05.009}, pmid = {27263362}, issn = {1768-3238}, mesh = {Animals ; Epigenomics/*history/trends ; Genes ; Genetics/*history/trends ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/history/trends ; Plants/genetics ; }, abstract = {The origins of genetics are to be found in Gregor Mendel's memoir on plant hybridization (1865). However, the word 'genetics' was only coined in 1906, to designate the new science of heredity. Founded upon the Mendelian method for analyzing the products of crosses, this science is distinguished by its explicit purpose of being a general 'science of heredity', and by the introduction of totally new biological concepts (in particular those of gene, genotype, and phenotype). In the 1910s, Mendelian genetics fused with the chromosomal theory of inheritance, giving rise to what is still called 'classical genetics'. Within this framework, the gene is simultaneously a unit of function and transmission, a unit of recombination, and of mutation. Until the early 1950s, these concepts of the gene coincided. But when DNA was found to be the material basis of inheritance, this congruence dissolved. Then began the venture of molecular biology, which has never stopped revealing the complexity of the way in which hereditary material functions.}, } @article {pmid27238367, year = {2016}, author = {Prunet, N and Meyerowitz, EM}, title = {Genetics and plant development.}, journal = {Comptes rendus biologies}, volume = {339}, number = {7-8}, pages = {240-246}, doi = {10.1016/j.crvi.2016.05.003}, pmid = {27238367}, issn = {1768-3238}, support = {R01 GM104244/GM/NIGMS NIH HHS/United States ; }, mesh = {Developmental Biology ; Genes, Plant/genetics ; Genetics/*trends ; *Plant Development ; Plants/*genetics ; Regulatory Sequences, Nucleic Acid ; }, abstract = {There are only three grand theories in biology: the theory of the cell, the theory of the gene, and the theory of evolution. Two of these, the cell and gene theories, originated in the study of plants, with the third resulting in part from botanical considerations as well. Mendel's elucidation of the rules of inheritance was a result of his experiments on peas. The rediscovery of Mendel's work in 1900 was by the botanists de Vries, Correns, and Tschermak. It was only in subsequent years that animals were also shown to have segregation of genetic elements in the exact same manner as had been shown in plants. The story of developmental biology is different - while the development of plants has long been studied, the experimental and genetic approaches to developmental mechanism were developed via experiments on animals, and the importance of genes in development (e.g., Waddington, 1940) and their use for understanding developmental mechanisms came to botanical science much later - as late as the 1980s.}, } @article {pmid27228359, year = {2016}, author = {Singh, RS}, title = {Science beyond boundary: are premature discoveries things of the past?.}, journal = {Genome}, volume = {59}, number = {6}, pages = {433-437}, doi = {10.1139/gen-2016-0056}, pmid = {27228359}, issn = {1480-3321}, mesh = {Biological Evolution ; Biology/*history ; Genetic Research/*history ; History, 19th Century ; Humans ; Imagination ; *Knowledge Discovery ; Science/history ; }, abstract = {Mendel's name more than of any other draws our attention to the personal side in terms of success and failure in science. Mendel lived 19 years after presenting his research findings and died without receiving any recognition for his work. Are premature discoveries things of the past, you may ask? I review the material basis of science in terms of science boundary and field accessibility and analyze the possibility of premature discoveries in different fields of science such as, for example, physics and biology. I conclude that science has reached a stage where progress is being made mostly by pushing the boundary of the known from inside than by leaping across boundaries. As more researchers become engaged in science, and as more publications become open access, on-line, and interactive, the probability of an important discovery remaining buried and going unrecognized would become exceedingly small. Of course, as examples from physics show, a new theory or an important idea can always lie low, unrecognized until it becomes re-discovered and popularized by other researchers. Thus, premature discoveries will become less likely but not forbidden.}, } @article {pmid27048440, year = {2016}, author = {Opitz, JM and Pavone, L and Corsello, G}, title = {The power of stories in Pediatrics and Genetics.}, journal = {Italian journal of pediatrics}, volume = {42}, number = {}, pages = {35}, pmid = {27048440}, issn = {1824-7288}, mesh = {Animals ; Books/*history ; *Child Development ; Genetics/*history ; History, 19th Century ; Humans ; Infant ; Insecta/*genetics ; Pediatrics/history ; Plants/*genetics ; United States ; }, abstract = {On the occasion of the opening ceremony of the 43rd Sicilian Congress of Pediatrics, linked with Italian Society of Pediatrics SIP, SIN, SIMEUP, SIAIP and SINP, held in Catania in November 2015, the Organizing Committee dedicated a tribute to Professor John Opitz and invited him to give a Masters Lecture for the attendees at the Congress. The theme expounded was "Storytelling in Pediatrics and Genetics: Lessons from Aesop and from Mendel". The contribution of John Opitz to the understanding of pediatric clinical disorders and genetic anomalies has been extremely relevant. The interests of Professor John Opitz are linked not only to genetic disorders but also extend to historical medicine, history of the literature and to human evolution. Due to his exceptional talent, combined with his specific interest and basal knowledge in the genetic and pediatric fields, he is widely credited to be one of the best pediatricians in the world.}, } @article {pmid26875293, year = {2015}, author = {Sótonyi, G}, title = {[Participation of Hungarians in the Elaboration of Principles of Genetics and of Biotehchnology].}, journal = {Orvostorteneti kozlemenyek}, volume = {61}, number = {1-4}, pages = {125-136}, pmid = {26875293}, issn = {0010-3551}, mesh = {Animal Husbandry/*history ; Biotechnology/*history ; Europe ; Genetic Research/history ; Genetics/*history ; Genetics, Population/history ; *Heredity ; History, 18th Century ; History, 19th Century ; History, 20th Century ; Humans ; Hungary ; Mutation ; Political Systems/history ; Politics ; Publishing/history ; }, abstract = {It was in 1983 that Robert Bud, director of The Science Museum in London, made it public that the principles of biotechnology, and the term itself were first put into words by a Hungarian scientist, Károly Ereky (The use of life. A history of biotechnology. Cambridge - New York--Melbourne, Cambridge University Press, 1993). Károly Ereky stated that if raw material is used to produce consumer goods with the help of living organisms, the workflow data can be collected in biotechnology. He phrased the principles of biotechnology in his book published in German in 1919 called Biotechnology, ranking him among the world's greatest (Verlag Paul Parey, Berlin, 1919). In 1918 in Brno, three years before the birth of Mendel, count Imre Festetics formulated his theses in 4 points in his publication "Die genetische Gesetze der Natur" (Oekonomische Neuigkeiten und Verhandlungen. Brünn, 22: 169-170, 1819), using the word 'genetics' for the first time in the world. It was Vitezslav Orel, director of the Mendel Museum in Brno, who brought the attention of the world to this fact in 1989, based on the documents possessed by the Museum. The English scientist J.R. Wood published his new findings in 2001, accord- ing to which Festetics summarized his results in the form of four genetic laws well before Mendel, describing principles of the process of mutation and inheritance. Festetics provided evidence for the improvement of the stock by cross-breeding. He stated Mendel's second law on the importance of selection. He called attention to the priority of internal genetic fac- tors. Hungarians can rightly be proud of Károly Ereky (1878-1952) and count Imre Festetics (1764-1847).}, } @article {pmid26869463, year = {2016}, author = {Kleinman, K}, title = {"Bringing Taxonomy to the Service of Genetics": Edgar Anderson and Introgressive Hybridization.}, journal = {Journal of the history of biology}, volume = {49}, number = {4}, pages = {603-624}, pmid = {26869463}, issn = {1573-0387}, mesh = {Botany/*history ; Classification ; Genetic Linkage ; Genetics/*history ; Genetics, Population ; History, 20th Century ; *Hybridization, Genetic ; Plants/classification/genetics ; Selection, Genetic ; United States ; }, abstract = {In introgressive hybridization (the repeated backcrossing of hybrids with parental populations), Edgar Anderson found a source for variation upon which natural selection could work. In his 1953 review article "Introgressive Hybridization," he asserted that he was "bringing taxonomy to the service of genetics" whereas distinguished colleagues such as Theodosius Dobzhansky and Ernst Mayr did the precise opposite. His work as a geneticist particularly focused on linkage and recombination and was enriched by collaborations with Missouri Botanical Garden colleagues interested in taxonomy as well as with cytologists C.D. Darlington and Karl Sax. As the culmination of a biosystemtatic research program, Anderson's views challenged the mainstream of the Evolutionary Synthesis.}, } @article {pmid26801335, year = {2016}, author = {Sun, S and Deng, D and Wang, Z and Duan, C and Wu, X and Wang, X and Zong, X and Zhu, Z}, title = {A novel er1 allele and the development and validation of its functional marker for breeding pea (Pisum sativum L.) resistance to powdery mildew.}, journal = {TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik}, volume = {129}, number = {5}, pages = {909-919}, pmid = {26801335}, issn = {1432-2242}, mesh = {Alleles ; Ascomycota ; Base Sequence ; Chromosome Mapping ; Crosses, Genetic ; DNA, Plant/genetics ; Disease Resistance/*genetics ; Genes, Plant ; Genetic Linkage ; *Genetic Markers ; Molecular Sequence Data ; Peas/*genetics ; Phenotype ; *Plant Breeding ; Plant Diseases/*genetics/microbiology ; Sequence Analysis, DNA ; }, abstract = {KEY MESSAGE: A novel er1 allele, er1 -7, conferring pea powdery mildew resistance was characterized by a 10-bp deletion in PsMLO1 cDNA, and its functional marker was developed and validated in pea germplasms. Pea powdery mildew caused by Erysiphe pisi DC is a major disease worldwide. Pea cultivar 'DDR-11' is an elite germplasm resistant to E. pisi. To identify the gene conferring resistance in DDR-11, the susceptible Bawan 6 and resistant DDR-11 cultivars were crossed to produce F1, F2, and F(2:3) populations. The phenotypic segregation patterns in the F2 and F(2:3) populations fit the 3:1 (susceptible:resistant) and 1:2:1 (susceptible homozygotes:heterozygotes:resistant homozygotes) ratios, respectively, indicating that resistance was controlled by a single recessive gene. Analysis of er1-linked markers in the F2 population suggested that the recessive resistance gene in DDR-11 was an er1 allele, which was mapped between markers ScOPE16-1600 and c5DNAmet. To further characterize er1 allele, the cDNA sequences of PsMLO1 from the parents were obtained and a novel er1 allele in DDR-11 was identified and designated as er1-7, which has a 10-bp deletion in position 111-120. The er1-7 allele caused a frame-shift mutation, resulting in a premature termination of translation of PsMLO1 protein. A co-dominant functional marker specific for er1-7 was developed, InDel111-120, which co-segregated with E. pisi resistance in the mapping population. The marker was able to distinguish between pea germplasms with and without the er1-7. Of 161 pea germplasms tested by InDel111-120, seven were detected containing resistance allele er1-7, which was verified by sequencing their PsMLO1 cDNA. Here, a novel er1 allele was characterized and its an ideal functional marker was validated, providing valuable genetic information and a powerful tool for breeding pea resistance to powdery mildew.}, } @article {pmid26788542, year = {2016}, author = {De Castro, M}, title = {Johann Gregor Mendel: paragon of experimental science.}, journal = {Molecular genetics & genomic medicine}, volume = {4}, number = {1}, pages = {3-8}, pmid = {26788542}, issn = {2324-9269}, abstract = {This is a foreword on the life and work of one of the greatest minds of the 20th century, the father of modern genetics, Johann Gregor Mendel.}, } @article {pmid26740939, year = {2015}, author = {Richter, FC}, title = {Remembering Johann Gregor Mendel: a human, a Catholic priest, an Augustinian monk, and abbot.}, journal = {Molecular genetics & genomic medicine}, volume = {3}, number = {6}, pages = {483-485}, doi = {10.1002/mgg3.186}, pmid = {26740939}, issn = {2324-9269}, abstract = {Johann Mendel (Gregor was the name given to him only later by his Augustinian order, Fig. 1) was born on July 20, 1822 to an ethnic German family, Anton and Rosina Mendel (Fig. 2), in Heinzendorf in the Austrian Empire at the Moravian-Silesian border (now Hynčice, Czech Republic).}, } @article {pmid26740938, year = {2015}, author = {Hart, PS and Muenke, M}, title = {Foreword to volume 3, issue 6.}, journal = {Molecular genetics & genomic medicine}, volume = {3}, number = {6}, pages = {481-482}, pmid = {26740938}, issn = {2324-9269}, abstract = {As 2015 draws to a close so too do the many celebrations of the 150th anniversary of Mendel's presentation of his work entitled "Experiments in Plant Hybridization" to the Natural History Society of Brno.}, } @article {pmid26733663, year = {2016}, author = {Rosenberg, NA}, title = {Admixture Models and the Breeding Systems of H. S. Jennings: A GENETICS Connection.}, journal = {Genetics}, volume = {202}, number = {1}, pages = {9-13}, pmid = {26733663}, issn = {1943-2631}, mesh = {*Chromosomes ; Genetics/*history ; Periodicals as Topic/*history ; }, } @article {pmid26699626, year = {2016}, author = {Meunier, R}, title = {The many lives of experiments: Wilhelm Johannsen, selection, hybridization, and the complex relations of genes and characters.}, journal = {History and philosophy of the life sciences}, volume = {38}, number = {1}, pages = {42-64}, doi = {10.1007/s40656-015-0093-7}, pmid = {26699626}, issn = {0391-9714}, mesh = {Biological Evolution ; Fabaceae/*genetics ; Genetics/*history ; Heredity ; History, 19th Century ; History, 20th Century ; *Hybridization, Genetic ; *Selection, Genetic ; }, abstract = {In addition to his experiments on selection in pure lines, Wilhelm Johannsen (1857-1927) performed less well-known hybridisation experiments with beans. This article describes these experiments and discusses Johannsen's motivations and interpretations, in the context of developments in early genetics. I will show that Johannsen first presented the hybridisation experiments as an additional control for his selection experiments. The latter were dedicated to investigating heredity with respect to debates concerning the significance of natural selection of continuous variation for evolution. In the course of the establishment of a Mendelian research program after 1900, the study of heredity gained increasing independence from questions of evolution, and focused more on the modes and mechanisms of heredity. Further to their role as control experiments, Johannsen also saw his hybridisation experiments as contributing to the Mendelian program, by extending the scope of the principles of Mendelian inheritance to quantitative characters. Towards the end of the first decade of genetics, Johannsen revisited his experiments to illustrate the many-many relationship between genes and characters, at a time when that relationship appeared increasingly complex, and the unit-character concept, accordingly, became inadequate. For the philosophy of science, the example shows that experiments can have multiple roles in a research programme, and can be interpreted in the light of questions other than those that motivated the experiments in the first place.}, } @article {pmid26651239, year = {2016}, author = {Liu, Y and Li, X}, title = {Darwin and Mendel today: a comment on "Limits of imagination: the 150th Anniversary of Mendel's Laws, and why Mendel failed to see the importance of his discovery for Darwin's theory of evolution".}, journal = {Genome}, volume = {59}, number = {1}, pages = {75-77}, doi = {10.1139/gen-2015-0155}, pmid = {26651239}, issn = {1480-3321}, mesh = {*Biological Evolution ; Genetic Research/*history ; *Imagination ; *Selection, Genetic ; }, abstract = {We comment on a recent paper by Rama Singh, who concludes that Mendel deserved to be called the father of genetics, and Darwin would not have understood the significance of Mendel's paper had he read it. We argue that Darwin should have been regarded as the father of genetics not only because he was the first to formulate a unifying theory of heredity, variation, and development -- Pangenesis, but also because he clearly described almost all genetical phenomena of fundamental importance, including what he called "prepotency" and what we now call "dominance" or "Mendelian inheritance". The word "gene" evolved from Darwin's imagined "gemmules", instead of Mendel's so-called "factors".}, } @article {pmid26581894, year = {2016}, author = {Edwards, AW}, title = {Analysing nature's experiment: Fisher's inductive theorem of natural selection.}, journal = {Theoretical population biology}, volume = {109}, number = {}, pages = {1-5}, doi = {10.1016/j.tpb.2015.11.002}, pmid = {26581894}, issn = {1096-0325}, mesh = {Gene Frequency ; Genotype ; Humans ; *Models, Genetic ; Population Dynamics ; *Selection, Genetic ; }, abstract = {The paper by Ewens and Lessard (2015) adds to the progress that has been made in exploring the discrete-generation analytical version of Fisher's Fundamental Theorem of Natural Selection introduced by Ewens (1989). Fisher's continuous-time theorem differs from the version described by Ewens and Lessard by using a different concept of fitness. Ewens and Lessard use the conventional 'viability' concept whereas for Fisher the fitness of a genotype was its relative rate of increase or decrease in the population. The sole purpose of the present paper is to emphasize the alternative inductive nature of Fisher's theorem, as presented by him in 1930, by placing it in the context of his contemporary development of the analysis of variance in agricultural experiments. It is not a general discussion of the theorem itself.}, } @article {pmid26540846, year = {2015}, author = {Pai-Dhungat, JV}, title = {John Gregor Mendel (1822-1884).}, journal = {The Journal of the Association of Physicians of India}, volume = {63}, number = {3}, pages = {60-61}, pmid = {26540846}, issn = {0004-5772}, mesh = {Czech Republic ; Genetics/*history ; History, 19th Century ; *Philately ; }, } @article {pmid26450195, year = {2015}, author = {Radick, G}, title = {HISTORY OF SCIENCE. Beyond the "Mendel-Fisher controversy".}, journal = {Science (New York, N.Y.)}, volume = {350}, number = {6257}, pages = {159-160}, doi = {10.1126/science.aab3846}, pmid = {26450195}, issn = {1095-9203}, mesh = {Breeding/*history/statistics & numerical data ; Chi-Square Distribution ; Data Interpretation, Statistical ; Evaluation Studies as Topic ; Genetic Variation ; Genetics/*history/statistics & numerical data ; History, 19th Century ; Peas/genetics ; Scientific Misconduct/*history/statistics & numerical data ; }, } @article {pmid26440522, year = {2015}, author = {Yang, T and Fang, L and Zhang, X and Hu, J and Bao, S and Hao, J and Li, L and He, Y and Jiang, J and Wang, F and Tian, S and Zong, X}, title = {High-Throughput Development of SSR Markers from Pea (Pisum sativum L.) Based on Next Generation Sequencing of a Purified Chinese Commercial Variety.}, journal = {PloS one}, volume = {10}, number = {10}, pages = {e0139775}, pmid = {26440522}, issn = {1932-6203}, mesh = {Alleles ; *Genome, Plant ; Genotype ; High-Throughput Nucleotide Sequencing ; *Microsatellite Repeats ; Peas/*genetics ; *Polymorphism, Genetic ; }, abstract = {Pea (Pisum sativum L.) is an important food legume globally, and is the plant species that J.G. Mendel used to lay the foundation of modern genetics. However, genomics resources of pea are limited comparing to other crop species. Application of marker assisted selection (MAS) in pea breeding has lagged behind many other crops. Development of a large number of novel and reliable SSR (simple sequence repeat) or microsatellite markers will help both basic and applied genomics research of this crop. The Illumina HiSeq 2500 System was used to uncover 8,899 putative SSR containing sequences, and 3,275 non-redundant primers were designed to amplify these SSRs. Among the 1,644 SSRs that were randomly selected for primer validation, 841 yielded reliable amplifications of detectable polymorphisms among 24 genotypes of cultivated pea (Pisum sativum L.) and wild relatives (P. fulvum Sm.) originated from diverse geographical locations. The dataset indicated that the allele number per locus ranged from 2 to 10, and that the polymorphism information content (PIC) ranged from 0.08 to 0.82 with an average of 0.38. These 1,644 novel SSR markers were also tested for polymorphism between genotypes G0003973 and G0005527. Finally, 33 polymorphic SSR markers were anchored on the genetic linkage map of G0003973 × G0005527 F2 population.}, } @article {pmid26406361, year = {2015}, author = {Birchler, JA}, title = {Mendel, mechanism, models, marketing, and more.}, journal = {Cell}, volume = {163}, number = {1}, pages = {9-11}, doi = {10.1016/j.cell.2015.09.008}, pmid = {26406361}, issn = {1097-4172}, mesh = {Animals ; Chickens/genetics ; Crosses, Genetic ; Genetics/*history ; History, 18th Century ; *Models, Genetic ; Peas/genetics ; Zea mays/genetics ; }, abstract = {This year marks the 150(th) anniversary of the presentation by Gregor Mendel of his studies of plant hybridization to the Brunn Natural History Society. Their nature and meaning have been discussed many times. However, on this occasion, we reflect on the scientific enterprise and the perception of new discoveries.}, } @article {pmid26389148, year = {2015}, author = {}, title = {Special issue in honor of John James on the occasion of his 80th birthday.}, journal = {Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie}, volume = {132}, number = {2}, pages = {85-203}, pmid = {26389148}, issn = {1439-0388}, mesh = {Animal Husbandry ; Animals ; Australia ; Breeding/*history ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Queensland ; }, } @article {pmid26372894, year = {2015}, author = {Singh, RS}, title = {Limits of imagination: the 150th Anniversary of Mendel's Laws, and why Mendel failed to see the importance of his discovery for Darwin's theory of evolution.}, journal = {Genome}, volume = {58}, number = {9}, pages = {415-421}, doi = {10.1139/gen-2015-0107}, pmid = {26372894}, issn = {1480-3321}, mesh = {Anniversaries and Special Events ; *Biological Evolution ; Genetic Research/*history ; Genetic Variation ; History, 19th Century ; History, 20th Century ; *Imagination ; *Selection, Genetic ; }, abstract = {Mendel is credited for discovering Laws of Heredity, but his work has come under criticism on three grounds: for possible falsification of data to fit his expectations, for getting undue credit for the laws of heredity without having ideas of segregation and independent assortment, and for being interested in the development of hybrids rather than in the laws of heredity. I present a brief review of these criticisms and conclude that Mendel deserved to be called the father of genetics even if he may not, and most likely did not, have clear ideas of segregation and particulate determiners as we know them now. I argue that neither Mendel understood the evolutionary significance of his findings for the problem of genetic variation, nor would Darwin have understood their significance had he read Mendel's paper. I argue that the limits to imagination, in both cases, came from their mental framework being shaped by existing paradigms-blending inheritance in the case of Darwin, hybrid development in the case of Mendel. Like Einstein, Darwin's natural selection was deterministic; like Niels Bohr, Mendel's Laws were probabilistic-based on random segregation of trait-determining "factors". Unlike Einstein who understood quantum mechanics, Darwin would have been at a loss with Mendel's paper with no guide to turn to. Geniuses in their imaginations are like heat-seeking missiles locked-in with their targets of deep interests and they generally see things in one dimension only. Imagination has limits; unaided imagination is like a bird without wings--it goes nowhere.}, } @article {pmid26281767, year = {2015}, author = {Chadov, BF and Fedorova, NB and Chadova, EV}, title = {Conditional mutations in Drosophila melanogaster: On the occasion of the 150th anniversary of G. Mendel's report in Brünn.}, journal = {Mutation research. Reviews in mutation research}, volume = {765}, number = {}, pages = {40-55}, doi = {10.1016/j.mrrev.2015.06.001}, pmid = {26281767}, issn = {1388-2139}, mesh = {Animals ; Breeding/history/methods ; Chromosomes, Insect ; Drosophila Proteins/*genetics ; Drosophila melanogaster/classification/*genetics ; Epigenesis, Genetic ; Genetics/*history ; History, 19th Century ; Mutation ; Species Specificity ; }, abstract = {The basis for modern genetics was laid by Gregor Mendel. He proposed that traits belonging to the intraspecific variability class be studied. However, individuals of one species possess traits of another class. They are related to intraspecific similarity. Individuals never differ from each other in these traits. By analogy with traits varying within a species and determined by genes, it is conjectured that intraspecific similarity is determined by genes, too. If so, mutations in these genes can be obtained. This paper provides a review of works published in 2000-2014 that: (1) propose breeding methods for detection of mutations in Drosophila melanogaster genes that lead intraspecific similarity; these mutations were called conditional; (2) describe collections of conditional mutations in chromosomes X, 2, and 3 of Drosophila; (3) show unusual features of epigenetic nature in the mutants; and (4) analyze these features of the mutants. Based on the peculiarities of manifestation it is supposed that the recognized conditional mutations occur in genes responsible for intraspecific similarity. The genes presumably belong to the so-called regulatory network of the Drosophila genome. This approach expands the scope of breeding analysis introduced by G. Mendel for heredity studies 150 years ago.}, } @article {pmid26281764, year = {2015}, author = {Dronamraju, K}, title = {J.B.S. Haldane as I knew him, with a brief account of his contribution to mutation research.}, journal = {Mutation research. Reviews in mutation research}, volume = {765}, number = {}, pages = {1-6}, doi = {10.1016/j.mrrev.2015.05.002}, pmid = {26281764}, issn = {1388-2139}, support = {//Wellcome Trust/United Kingdom ; }, mesh = {England ; Genetics/*history ; History, 19th Century ; History, 20th Century ; Humans ; India ; *Mutation ; }, abstract = {J.B.S. Haldane made important contributions to several sciences although he did not possess an academic qualification in any branch of science. A classical scholar, who grew up in a scientific household in Oxford, Haldane was taught the principles of scientific experimentation from his childhood by his father, the distinguished physiologist John Scott Haldane. Collaborating with his father, Haldane contributed to respiratory physiology but soon switched to genetics, especially population genetics. He investigated mathematically the dynamics of selection - mutation balance in populations - concluding that it is mutation that determines the course of evolution. Besides genetics, Haldane was noted for his important contributions to enzyme kinetics, origin of life, biometry, cybernetics, cosmology and deep sea diving, among others.}, } @article {pmid26264884, year = {2015}, author = {Gardner, A}, title = {More on the genetical theory of multilevel selection.}, journal = {Journal of evolutionary biology}, volume = {28}, number = {9}, pages = {1747-1751}, doi = {10.1111/jeb.12684}, pmid = {26264884}, issn = {1420-9101}, mesh = {Animals ; *Biological Evolution ; *Models, Genetic ; *Selection, Genetic ; }, abstract = {In my article The genetical theory of multilevel selection, I provided a synthesis of the theory of multilevel selection (MLS) and the theory of natural selection in class-structured populations. I framed this synthesis within Fisher's genetical paradigm, taking a strictly genetical approach to traits and fitness. I showed that this resolves a number of long-standing conceptual problems that have plagued the MLS literature, including the issues of 'aggregate' vs. 'emergent' group traits, 'collective fitness1 ' vs. 'collective fitness2 ' and 'MLS1' vs. 'MLS2 '. In his commentary, Goodnight suggests this theoretical and conceptual synthesis is flawed in several respects. Here, I show this is incorrect, by: reiterating the theoretical and conceptual goals of my synthesis; clarifying that my genetical approach to traits is necessary for a proper analysis of the action of MLS independently of non-Darwinian factors; emphasizing that the Price-Hamilton approach to MLS provides a consistent, useful and conceptually superior theoretical framework; and explaining the role of reproductive value in the study of natural selection in class-structured populations. I also show that Goodnight's contextual analysis treatment of MLS in a class-structured population is mathematically, biologically and conceptually inadequate.}, } @article {pmid26183796, year = {2015}, author = {Wood, RJ}, title = {Darbishire expands his vision of heredity from Mendelian genetics to inherited memory.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {53}, number = {}, pages = {16-39}, doi = {10.1016/j.shpsc.2015.06.001}, pmid = {26183796}, issn = {1879-2499}, mesh = {England ; Female ; Genetics/*history ; *Heredity ; History, 19th Century ; History, 20th Century ; Humans ; *Memory ; }, abstract = {The British biologist A.D. Darbishire (1879-1915) responded to the rediscovery in 1900 of Mendel's theory of heredity by testing it experimentally, first in Oxford, then in Manchester and London. He summarised his conclusions in a textbook 'Breeding and the Mendelian Discovery' (1911), in which he questioned whether Mendelism alone could explain all aspects of practical breeding experience. Already he had begun to think about an alternative theory to give greater emphasis to the widely held conviction among breeders regarding the inheritance of characteristics acquired during an individual's life. Redefining heredity in terms of a germ-plasm based biological memory, he used vocabulary drawn partly from sources outside conventional science, including the metaphysical/vitalistic writings of Samuel Butler and Henri Bergson. An evolving hereditary memory fitted well with the conception of breeding as a creative art aimed at greater economic efficiency. For evolution beyond human control he proposed a self-modifying process, claiming it to surpass in efficiency the chancy mechanism of natural selection proposed by Darwin. From his writings, including early chapters of an unfinished book entitled 'An Introduction to a Biology', we consider how he reached these concepts and how they relate to later advances in understanding the genome and the genetic programme.}, } @article {pmid26138341, year = {2015}, author = {Nicholas, FW and Mäki-Tanila, A}, title = {An important anniversary: 150 years since Mendel's laws of inheritance made their first public appearance.}, journal = {Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie}, volume = {132}, number = {4}, pages = {277-280}, doi = {10.1111/jbg.12175}, pmid = {26138341}, issn = {1439-0388}, mesh = {Anniversaries and Special Events ; Genetics/*history ; History, 20th Century ; History, 21st Century ; }, } @article {pmid26094058, year = {2015}, author = {Tanghe, KB}, title = {Mendel at the sesquicentennial of 'Versuche über Pflanzen-Hybriden' (1865): The root of the biggest legend in the history of science.}, journal = {Endeavour}, volume = {39}, number = {2}, pages = {106-115}, doi = {10.1016/j.endeavour.2015.05.004}, pmid = {26094058}, issn = {1873-1929}, mesh = {Genetics/*history ; History, 19th Century ; Humans ; Male ; Mythology/*psychology ; }, abstract = {In 1965, Mendel was still celebrated as the undisputed founder of genetics. In the ensuing 50 years, scholars questioned and undermined this traditional interpretation of his experiments with hybrid plants, without, however, managing to replace it: at the sesquicentennial of the presentation of his 'Versuche' (1865), the Moravian friar remains, to a vast majority, the heroic Father of genetics or at least some kind of geneticist. This exceptionally inert myth is nourished by ontological intuitions but can only continue to flourish, thanks to a long-standing conceptual void in the historiography of biology. It is merely a symptom of this more fundamental problem.}, } @article {pmid26056161, year = {2015}, author = {Perbal, L}, title = {The case of the gene: Postgenomics between modernity and postmodernity.}, journal = {EMBO reports}, volume = {16}, number = {7}, pages = {777-781}, pmid = {26056161}, issn = {1469-3178}, mesh = {*Genes ; Genetic Research ; *Genetics/history/trends ; *Genomics/history/trends ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Humans ; Postmodernism ; }, } @article {pmid25874212, year = {2015}, author = {Durmaz, AA and Karaca, E and Demkow, U and Toruner, G and Schoumans, J and Cogulu, O}, title = {Evolution of genetic techniques: past, present, and beyond.}, journal = {BioMed research international}, volume = {2015}, number = {}, pages = {461524}, pmid = {25874212}, issn = {2314-6141}, mesh = {Genetic Techniques/history/*trends ; Genetics/history/*trends ; History, 20th Century ; History, 21st Century ; Humans ; }, abstract = {Genetics is the study of heredity, which means the study of genes and factors related to all aspects of genes. The scientific history of genetics began with the works of Gregor Mendel in the mid-19th century. Prior to Mendel, genetics was primarily theoretical whilst, after Mendel, the science of genetics was broadened to include experimental genetics. Developments in all fields of genetics and genetic technology in the first half of the 20th century provided a basis for the later developments. In the second half of the 20th century, the molecular background of genetics has become more understandable. Rapid technological advancements, followed by the completion of Human Genome Project, have contributed a great deal to the knowledge of genetic factors and their impact on human life and diseases. Currently, more than 1800 disease genes have been identified, more than 2000 genetic tests have become available, and in conjunction with this at least 350 biotechnology-based products have been released onto the market. Novel technologies, particularly next generation sequencing, have dramatically accelerated the pace of biological research, while at the same time increasing expectations. In this paper, a brief summary of genetic history with short explanations of most popular genetic techniques is given.}, } @article {pmid25765216, year = {2015}, author = {Burstin, J and Salloignon, P and Chabert-Martinello, M and Magnin-Robert, JB and Siol, M and Jacquin, F and Chauveau, A and Pont, C and Aubert, G and Delaitre, C and Truntzer, C and Duc, G}, title = {Genetic diversity and trait genomic prediction in a pea diversity panel.}, journal = {BMC genomics}, volume = {16}, number = {}, pages = {105}, pmid = {25765216}, issn = {1471-2164}, mesh = {Bayes Theorem ; Discriminant Analysis ; Genetic Markers ; *Genetic Variation ; *Genome, Plant ; Genotype ; Least-Squares Analysis ; Linear Models ; Microsatellite Repeats/genetics ; Peas/*genetics ; Phenotype ; Polymorphism, Single Nucleotide ; Principal Component Analysis ; }, abstract = {BACKGROUND: Pea (Pisum sativum L.), a major pulse crop grown for its protein-rich seeds, is an important component of agroecological cropping systems in diverse regions of the world. New breeding challenges imposed by global climate change and new regulations urge pea breeders to undertake more efficient methods of selection and better take advantage of the large genetic diversity present in the Pisum sativum genepool. Diversity studies conducted so far in pea used Simple Sequence Repeat (SSR) and Retrotransposon Based Insertion Polymorphism (RBIP) markers. Recently, SNP marker panels have been developed that will be useful for genetic diversity assessment and marker-assisted selection.

RESULTS: A collection of diverse pea accessions, including landraces and cultivars of garden, field or fodder peas as well as wild peas was characterised at the molecular level using newly developed SNP markers, as well as SSR markers and RBIP markers. The three types of markers were used to describe the structure of the collection and revealed different pictures of the genetic diversity among the collection. SSR showed the fastest rate of evolution and RBIP the slowest rate of evolution, pointing to their contrasted mode of evolution. SNP markers were then used to predict phenotypes -the date of flowering (BegFlo), the number of seeds per plant (Nseed) and thousand seed weight (TSW)- that were recorded for the collection. Different statistical methods were tested including the LASSO (Least Absolute Shrinkage ans Selection Operator), PLS (Partial Least Squares), SPLS (Sparse Partial Least Squares), Bayes A, Bayes B and GBLUP (Genomic Best Linear Unbiased Prediction) methods and the structure of the collection was taken into account in the prediction. Despite a limited number of 331 markers used for prediction, TSW was reliably predicted.

CONCLUSION: The development of marker assisted selection has not reached its full potential in pea until now. This paper shows that the high-throughput SNP arrays that are being developed will most probably allow for a more efficient selection in this species.}, } @article {pmid25750151, year = {2015}, author = {Hand, DJ}, title = {From evidence to understanding: a commentary on Fisher (1922) 'On the mathematical foundations of theoretical statistics'.}, journal = {Philosophical transactions. Series A, Mathematical, physical, and engineering sciences}, volume = {373}, number = {2039}, pages = {}, doi = {10.1098/rsta.2014.0252}, pmid = {25750151}, issn = {1471-2962}, abstract = {The nature of statistics has changed over time. It was originally concerned with descriptive 'matters of state'--with summarizing population numbers, economic strength and social conditions. But during the course of the twentieth century its aim broadened to include inference--how to use data to shed light on underlying mechanisms, about what might happen in the future, about what would happen if certain actions were taken. Central to this development was Ronald Fisher. Over the course of his life he was responsible for many of the major conceptual advances in statistics. This is particularly illustrated by his 1922 paper, in which he introduced many of the concepts which remain fundamental to our understanding of how to extract meaning from data, right to the present day. It is no exaggeration to say that Fisher's work, as illustrated by the ideas he described and developed in this paper, underlies all modern science, and much more besides. This commentary was written to celebrate the 350th anniversary of the journal Philosophical Transactions of the Royal Society.}, } @article {pmid25693553, year = {2015}, author = {Matalová, A and Matalová, E}, title = {Plant genetics: Czech centre marks Mendel anniversary.}, journal = {Nature}, volume = {518}, number = {7539}, pages = {303}, doi = {10.1038/518303e}, pmid = {25693553}, issn = {1476-4687}, mesh = {Anniversaries and Special Events ; Czech Republic ; Genetics/*history ; History, 19th Century ; History, 21st Century ; *Museums ; Plants/*genetics ; }, } @article {pmid25629074, year = {2015}, author = {Opitz, JM and Bianchi, DW}, title = {MENDEL: Morphologist and Mathematician Founder of Genetics - To Begin a Celebration of the 2015 Sesquicentennial of Mendel's Presentation in 1865 of his Versuche über Pflanzenhybriden.}, journal = {Molecular genetics & genomic medicine}, volume = {3}, number = {1}, pages = {1-7}, pmid = {25629074}, issn = {2324-9269}, } @article {pmid25608820, year = {2015}, author = {Wanjin, X and Morigen, M}, title = {Understanding the cellular and molecular mechanisms of dominant and recessive inheritance in genetics course.}, journal = {Yi chuan = Hereditas}, volume = {37}, number = {1}, pages = {98-108}, doi = {10.16288/j.yczz.2015.01.014}, pmid = {25608820}, issn = {0253-9772}, mesh = {Animals ; *Genes, Dominant ; *Genes, Recessive ; Genetics/*education ; *Heredity ; Humans ; Teaching ; }, abstract = {In Mendellian genetics, the dominance and recessiveness are used to describe the functional relationship between two alleles of one gene in a heterozygote. The allele which constitutes a phenotypical character over the other is named dominant and the one functionally masked is called recessive. The definitions thereby led to the creation of Mendel's laws on segregation and independent assortment and subsequent classic genetics. The discrimination of dominance and recessiveness originally is a requirement for Mendel's logical reasoning, but now it should be explained by cellular and molecular principles in the modern genetics. To answer the question raised by students of how the dominance and recessiveness are controlled, we reviewed the recent articles and tried to summarize the cellular and molecular basis of dominant and recessive inheritance. Clearly, understanding the essences of dominant and recessive inheritance requires us to know the dissimilarity of the alleles and their products (RNA and/or proteins), and the way of their function in cells. The alleles spatio-temporally play different roles on offering cells, tissues or organs with discernible phenotypes, namely dominant or recessive. Here, we discuss the changes of allele dominance and recessiveness at the cellular and molecular levels based on the variation of gene structure, gene regulation, function and types of gene products, in order to make students understand gene mutation and function more comprehensively and concretely.}, } @article {pmid25606659, year = {2014}, author = {Fölster, S}, title = {[Criticism without evidence, symptomatic of the health care debate].}, journal = {Lakartidningen}, volume = {111}, number = {38}, pages = {1584}, pmid = {25606659}, issn = {0023-7205}, mesh = {Humans ; *Statistics as Topic ; }, } @article {pmid27576756, year = {2015}, author = {Visscher, PM and Wray, NR}, title = {Concepts and Misconceptions about the Polygenic Additive Model Applied to Disease.}, journal = {Human heredity}, volume = {80}, number = {4}, pages = {165-170}, doi = {10.1159/000446931}, pmid = {27576756}, issn = {1423-0062}, mesh = {Disease/*genetics ; Environment ; Humans ; *Models, Genetic ; Multifactorial Inheritance ; Quantitative Trait, Heritable ; }, abstract = {It is nearly one hundred years, since R.A. Fisher published his now famous paper that started the field of quantitative genetics. That paper reconciled Mendelian genetics (as exemplified by Mendel's peas) and the biometrical approach to quantitative traits (as exemplified by the correlation and regression approaches from Galton and Pearson), by showing that a simple model of many genes of small effects, each following Mendel's laws of segregation and inheritance, plus environmental variation could account for the observed resemblance between relatives. In this review, we discuss a number of concepts and misconceptions about the assumptions and limitations of polygenic models of common diseases in human populations.}, } @article {pmid25515357, year = {2014}, author = {Teicher, A}, title = {Mendel's use of mathematical modelling: ratios, predictions and the appeal to tradition.}, journal = {History and philosophy of the life sciences}, volume = {36}, number = {2}, pages = {187-208}, doi = {10.1007/s40656-014-0019-9}, pmid = {25515357}, issn = {0391-9714}, mesh = {*Chimera ; Genetics/*history ; Germany ; History, 19th Century ; *Models, Theoretical ; }, abstract = {The seventh section of Gregor Mendel's famous 1866 paper contained a peculiar mathematical model, which predicted the expected ratios between the number of constant and hybrid types, assuming self-pollination continued throughout further generations. This model was significant for Mendel's argumentation and was perceived as inseparable from his entire theory at the time. A close examination of this model reveals that it has several perplexing aspects which have not yet been systematically scrutinized. The paper analyzes those aspects, dispels some common misconceptions regarding the interpretation of the model, and re-evaluates the role of this model for Mendel himself. In light of the resulting analysis, Mendel's position between nineteenth-century hybridist tradition and twentieth-century population genetics is reassessed, and his sophisticated use of mathematics to legitimize his innovative theory is uncovered.}, } @article {pmid25311906, year = {2015}, author = {Parolini, G}, title = {The emergence of modern statistics in agricultural science: analysis of variance, experimental design and the reshaping of research at Rothamsted Experimental Station, 1919-1933.}, journal = {Journal of the history of biology}, volume = {48}, number = {2}, pages = {301-335}, pmid = {25311906}, issn = {0022-5010}, mesh = {Agriculture/*history ; Analysis of Variance ; England ; History, 20th Century ; Research Design ; Statistics as Topic/*history ; }, abstract = {During the twentieth century statistical methods have transformed research in the experimental and social sciences. Qualitative evidence has largely been replaced by quantitative results and the tools of statistical inference have helped foster a new ideal of objectivity in scientific knowledge. The paper will investigate this transformation by considering the genesis of analysis of variance and experimental design, statistical methods nowadays taught in every elementary course of statistics for the experimental and social sciences. These methods were developed by the mathematician and geneticist R. A. Fisher during the 1920s, while he was working at Rothamsted Experimental Station, where agricultural research was in turn reshaped by Fisher's methods. Analysis of variance and experimental design required new practices and instruments in field and laboratory research, and imposed a redistribution of expertise among statisticians, experimental scientists and the farm staff. On the other hand the use of statistical methods in agricultural science called for a systematization of information management and made computing an activity integral to the experimental research done at Rothamsted, permanently integrating the statisticians' tools and expertise into the station research programme. Fisher's statistical methods did not remain confined within agricultural research and by the end of the 1950s they had come to stay in psychology, sociology, education, chemistry, medicine, engineering, economics, quality control, just to mention a few of the disciplines which adopted them.}, } @article {pmid25090836, year = {2014}, author = {Bonnemain, B}, title = {[Fraud and pharmacist: an old companionship from Antiquity to nowadays].}, journal = {Revue d'histoire de la pharmacie}, volume = {62}, number = {382}, pages = {175-184}, pmid = {25090836}, issn = {0035-2349}, mesh = {Fraud/history ; *History of Pharmacy ; History, 15th Century ; History, 16th Century ; History, 17th Century ; History, 18th Century ; History, 19th Century ; History, 20th Century ; History, 21st Century ; History, Ancient ; Humans ; Pharmaceutical Preparations ; Pharmacists/*history ; Professional Role ; Scientific Misconduct/history ; }, abstract = {Fraudulent trading often deals with pharmacist, from several viewpoints. Pharmacist had often suffered from it, but he was also sometimes the source of falsification which initiated the need for inspection of pharmacy shops. The scientific knowledge of pharmacists, and particularly his analytical skills, explains their role to detect falsifications for products outside drugs, especially for food and also for drug use in competitive sport. Drug falsification goes back to time immemorial and goes on today very actively with Internet expansion. States and WHO try to fight against this plague with more and more complex tools such as Datamatrix progressively implemented worldwide. Pharmacy and falsifications, two words that will be unfortunately associated during the whole human history.}, } @article {pmid24882823, year = {2014}, author = {Roll-Hansen, N}, title = {The holist tradition in twentieth century genetics. Wilhelm Johannsen's genotype concept.}, journal = {The Journal of physiology}, volume = {592}, number = {11}, pages = {2431-2438}, pmid = {24882823}, issn = {1469-7793}, mesh = {Animals ; *Biological Evolution ; Chromosomes/*genetics ; Genes, Plant ; Genetics/*history ; History, 20th Century ; History, 21st Century ; }, abstract = {The terms 'genotype', 'phenotype' and 'gene' originally had a different meaning from that in the Modern Synthesis. These terms were coined in the first decade of the twentieth century by the Danish plant physiologist Wilhelm Johannsen. His bean selection experiment and his theoretical analysis of the difference between genotype and phenotype were important inputs to the formation of genetics as a well-defined special discipline. This paper shows how Johannsen's holistic genotype theory provided a platform for criticism of narrowly genocentric versions of the chromosome theory of heredity that came to dominate genetics in the middle decades of the twentieth century. Johannsen came to recognize the epoch-making importance of the work done by the Drosophila group, but he continued to insist on the incompleteness of the chromosome theory. Genes of the kind that they mapped on the chromosomes could only give a partial explanation of biological heredity and evolution.}, } @article {pmid24803228, year = {2014}, author = {Porter, TM}, title = {The curious case of blending inheritance.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {46}, number = {}, pages = {125-132}, doi = {10.1016/j.shpsc.2014.02.003}, pmid = {24803228}, issn = {1879-2499}, mesh = {Biometry/*history ; Genetics/*history ; *Heredity ; History, 19th Century ; History, 20th Century ; }, abstract = {For more than a century, geneticists have consistently identified the origins of their science with Gregor Mendel's experiments on peas. Mendelism, they have said, demonstrated at long last that biological inheritance was not, as had so often been supposed, "blending," but particulate. Many historians of biology continue to interpret the conflict of biometricians and Mendelians at the start of the twentieth century in these terms, identifying biometry with the (incorrect) blending mechanism. But this view of blending is history as war by other means. While Francis Galton's contrast between blended and alternate inheritance had become familiar by 1905, he and his interpreters understood the two forms as differing outcomes of breeding, not as rival theories. Only a few biologists in this period went beyond blending as a description of results of breeding to a blending mechanism, and these were not biometricians. Recognizing this, we can see also that statistical methods and models were central to evolutionary genetics right from the start. The evolutionary synthesis, while reshaping their role, did not create it.}, } @article {pmid24747808, year = {2014}, author = {Theunissen, B}, title = {Practical animal breeding as the key to an integrated view of genetics, eugenics and evolutionary theory: Arend L. Hagedoorn (1885-1953).}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {46}, number = {}, pages = {55-64}, doi = {10.1016/j.shpsc.2014.03.004}, pmid = {24747808}, issn = {1879-2499}, mesh = {Animal Husbandry/*history ; Animals ; Biological Evolution ; Breeding/*history ; Eugenics/*history ; Genetics/*history ; History, 20th Century ; }, abstract = {In the history of genetics Arend Hagedoorn (1885-1953) is mainly known for the 'Hagedoorn effect', which states that part of the changes in variability that populations undergo over time are due to chance effects. Leaving this contribution aside, Hagedoorn's work has received scarcely any attention from historians. This is mainly due to the fact that Hagedoorn was an expert in animal breeding, a field that historians have only recently begun to explore. His work provides an example of how a prominent geneticist envisaged animal breeding to be reformed by the new science of heredity. Hagedoorn, a pupil of Hugo de Vries, tried to integrate his insights as a Mendelian geneticist and an animal breeding expert in a unified view of heredity, eugenics and evolution. In this paper I aim to elucidate how these fields were connected in Hagedoorn's work.}, } @article {pmid24585582, year = {2015}, author = {Vyas, SA and Desai, SP}, title = {The Professor and the Student, Sir Ronald Aylmer Fisher (1890-1962) and William Sealy Gosset (1876-1937): Careers of two giants in mathematical statistics.}, journal = {Journal of medical biography}, volume = {23}, number = {2}, pages = {98-107}, doi = {10.1177/0967772013479482}, pmid = {24585582}, issn = {1758-1087}, mesh = {Biostatistics/history ; England ; Eugenics/history ; History, 20th Century ; Humans ; Statistics as Topic/*history ; }, abstract = {Sir Ronald Aylmer Fisher and William Sealy Gosset were responsible for laying the foundations of statistical inference. Tests that bear their names are used by students and researchers in a wide variety of scientific disciplines. Similar and different in many respects, their lives and careers are the subject of this essay. They were not teacher and pupil; in fact the student was 14 years older than the professor. Their careers did not require them to interact with one another much but they were aware of one another's work. Although Sir Ronald is assigned the role of the professor, his success as a teacher was impaired by his inability to understand the limitations of his students. Meanwhile Gosset was forced to publish his work under the pseudonym 'Student' in order to make contributions to the field of mathematical statistics. Both men are undisputed giants in the field of statistics and we celebrate their achievements as much as we try to understand their struggles.}, } @article {pmid24502277, year = {2014}, author = {Mayo, O}, title = {Fisher in Adelaide.}, journal = {Biometrics}, volume = {70}, number = {2}, pages = {266-269}, doi = {10.1111/biom.12154}, pmid = {24502277}, issn = {1541-0420}, mesh = {Biometry/*history ; History, 20th Century ; South Australia ; }, abstract = {R. A. Fisher spent much of his final 3 years of life in Adelaide. It was a congenial place to live and work, and he was much in demand as a speaker, in Australia and overseas. It was, however, a difficult time for him because of the sustained criticism of fiducial inference from the early 1950s onwards. The article discusses some of Fisher's work on inference from an Adelaide perspective. It also considers some of the successes arising from this time, in the statistics of field experimentation and in evolutionary genetics. A few personal recollections of Fisher as houseguest are provided. This article is the text of a article presented on August 31, 2012 at the 26th International Biometric Conference, Kobe, Japan.}, } @article {pmid24465180, year = {2014}, author = {Poczai, P and Bell, N and Hyvönen, J}, title = {Imre Festetics and the Sheep Breeders' Society of Moravia: Mendel's Forgotten "Research Network".}, journal = {PLoS biology}, volume = {12}, number = {1}, pages = {e1001772}, pmid = {24465180}, issn = {1545-7885}, mesh = {Animals ; Breeding/*history ; Czech Republic ; Female ; Genetics/*history ; Heredity ; History, 18th Century ; History, 19th Century ; Humans ; Hungary ; Male ; Models, Genetic ; Peas/genetics ; Sheep/*genetics ; Wool/chemistry/*history ; }, abstract = {Contemporary science thrives on collaborative networks, but these can also be found elsewhere in the history of science in unexpected places. When Mendel turned his attention to inheritance in peas he was not an isolated monk, but rather the latest in a line of Moravian researchers and agriculturalists who had been thinking about inheritance for half a century. Many of the principles of inheritance had already been sketched out by Imre Festetics, a Hungarian sheep breeder active in Brno. Festetics, however, was ultimately hindered by the complex nature of his study traits, aspects of wool quality that we now know to be polygenic. Whether or not Mendel was aware of Festetics’s ideas,both men were products of the same vibrant milieu in 19th-century Moravia that combined theory and agricultural practice to eventually uncover the rules of inheritance.}, } @article {pmid24107572, year = {2013}, author = {Clerget-Darpoux, F and Elston, RC}, title = {Will formal genetics become dispensable?.}, journal = {Human heredity}, volume = {76}, number = {2}, pages = {47-52}, doi = {10.1159/000354571}, pmid = {24107572}, issn = {1423-0062}, mesh = {Extrachromosomal Inheritance/*genetics ; Genetics/*history/*trends ; History, 20th Century ; History, 21st Century ; Inheritance Patterns/*genetics ; *Models, Genetic ; *Multifactorial Inheritance ; Phenotype ; Precision Medicine/methods/*trends ; }, } @article {pmid24096634, year = {2014}, author = {Pogue, J and Sackett, DL}, title = {Clinician-trialist rounds: 19. Faux pas or fraud? Identifying centers that have fabricated their data in your multi-center trial.}, journal = {Clinical trials (London, England)}, volume = {11}, number = {1}, pages = {128-130}, doi = {10.1177/1740774513503524}, pmid = {24096634}, issn = {1740-7753}, mesh = {Chi-Square Distribution ; Data Interpretation, Statistical ; Models, Statistical ; Multicenter Studies as Topic/*ethics/standards ; *Scientific Misconduct ; }, } @article {pmid24062285, year = {2013}, author = {Visscher, PM}, title = {Commentary: Height and Mendel's theory: the long and the short of it.}, journal = {International journal of epidemiology}, volume = {42}, number = {4}, pages = {944-945}, pmid = {24062285}, issn = {1464-3685}, support = {P01 GM099568/GM/NIGMS NIH HHS/United States ; R01 GM075091/GM/NIGMS NIH HHS/United States ; GM075091/GM/NIGMS NIH HHS/United States ; GM099568/GM/NIGMS NIH HHS/United States ; }, mesh = {Growth/*genetics ; Humans ; }, } @article {pmid24062283, year = {2013}, author = {Brownlee, J}, title = {The inheritance of complex growth forms, such as stature, on Mendel's theory.}, journal = {International journal of epidemiology}, volume = {42}, number = {4}, pages = {932-934}, doi = {10.1093/ije/dyt068}, pmid = {24062283}, issn = {1464-3685}, mesh = {Binomial Distribution ; Genes, Dominant/genetics ; Growth/*genetics ; Heredity ; Humans ; }, } @article {pmid24018765, year = {2013}, author = {Stark, A and Seneta, E}, title = {Wilhelm Weinberg's early contribution to segregation analysis.}, journal = {Genetics}, volume = {195}, number = {1}, pages = {1-6}, pmid = {24018765}, issn = {1943-2631}, mesh = {*Chromosome Segregation ; Genetics, Population/*history ; Germany ; History, 19th Century ; History, 20th Century ; }, abstract = {Wilhelm Weinberg (1862-1937) is a largely forgotten pioneer of human and medical genetics. His name is linked with that of the English mathematician G. H. Hardy in the Hardy-Weinberg law, pervasive in textbooks on population genetics since it expresses stability over generations of zygote frequencies AA, Aa, aa under random mating. One of Weinberg's signal contributions, in an article whose centenary we celebrate, was to verify that Mendel's segregation law still held in the setting of human heredity, contrary to the then-prevailing view of William Bateson (1861-1926), the leading Mendelian geneticist of the time. Specifically, Weinberg verified that the proportion of recessive offspring genotypes aa in human parental crossings Aa × Aa (that is, the segregation ratio for such a setting) was indeed p=1/4. We focus in a nontechnical way on his procedure, called the simple sib method, and on the heated controversy with Felix Bernstein (1878-1956) in the 1920s and 1930s over work stimulated by Weinberg's article.}, } @article {pmid23996314, year = {2013}, author = {Weller, JL and Hecht, VF and Sussmilch, FC}, title = {Isolation and forward genetic analysis of developmental genes in pea.}, journal = {Methods in molecular biology (Clifton, N.J.)}, volume = {1069}, number = {}, pages = {147-161}, doi = {10.1007/978-1-62703-613-9_11}, pmid = {23996314}, issn = {1940-6029}, mesh = {Chromosome Mapping ; Cloning, Molecular ; Computational Biology/methods ; Gene Expression Regulation, Developmental ; Gene Expression Regulation, Plant ; *Genes, Developmental ; *Genes, Plant ; Genomics/*methods ; Peas/*genetics ; Phenotype ; }, abstract = {Understanding of developmental processes relies heavily on isolation and functional characterization of relevant genes. The garden pea (Pisum sativum L.) is one of the classic model species in plant genetics and has been used for a wide range of physiological and molecular studies of plant development. Here we describe the resources and approaches available for isolation of genes and genetic characterization of loci affecting development in pea.}, } @article {pmid23957890, year = {2014}, author = {Edwards, AW}, title = {R.A. Fisher's gene-centred view of evolution and the Fundamental Theorem of Natural Selection.}, journal = {Biological reviews of the Cambridge Philosophical Society}, volume = {89}, number = {1}, pages = {135-147}, doi = {10.1111/brv.12047}, pmid = {23957890}, issn = {1469-185X}, mesh = {Animals ; *Biological Evolution ; Biometry/history ; England ; Genetic Variation ; Genetics, Population/*history ; History, 20th Century ; Humans ; *Selection, Genetic ; }, abstract = {The background to R.A. Fisher's enunciation of his Fundamental Theorem of Natural Selection in 1930 is traced and the Theorem in its original form explained. It can now be seen as the centrepiece of Fisher's introduction of the gene-centred approach to evolutionary biology. Although this paper is a sequel to Edwards (1994) it is not a review of the recent literature on the Theorem, to which, however, reference is made at the end.}, } @article {pmid23938113, year = {2013}, author = {Lee, JJ and Chow, CC}, title = {The causal meaning of Fisher's average effect.}, journal = {Genetics research}, volume = {95}, number = {2-3}, pages = {89-109}, pmid = {23938113}, issn = {1469-5073}, support = {ZIA DK075068-01/ImNIH/Intramural NIH HHS/United States ; }, mesh = {Alleles ; Animals ; Models, Theoretical ; *Selection, Genetic ; }, abstract = {In order to formulate the Fundamental Theorem of Natural Selection, Fisher defined the average excess and average effect of a gene substitution. Finding these notions to be somewhat opaque, some authors have recommended reformulating Fisher's ideas in terms of covariance and regression, which are classical concepts of statistics. We argue that Fisher intended his two averages to express a distinction between correlation and causation. On this view, the average effect is a specific weighted average of the actual phenotypic changes that result from physically changing the allelic states of homologous genes. We show that the statistical and causal conceptions of the average effect, perceived as inconsistent by Falconer, can be reconciled if certain relationships between the genotype frequencies and non-additive residuals are conserved. There are certain theory-internal considerations favouring Fisher's original formulation in terms of causality; for example, the frequency-weighted mean of the average effects equaling zero at each locus becomes a derivable consequence rather than an arbitrary constraint. More broadly, Fisher's distinction between correlation and causation is of critical importance to gene-trait mapping studies and the foundations of evolutionary biology.}, } @article {pmid23888828, year = {2013}, author = {Barahona, A}, title = {The history of genetics in Mexico in the light of A Cultural History of Heredity.}, journal = {History and philosophy of the life sciences}, volume = {35}, number = {1}, pages = {69-74}, pmid = {23888828}, issn = {0391-9714}, mesh = {Culture ; Genetics/*history ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Mexico ; }, abstract = {In this paper I analyze the conditions for scientific research and the social relationships that allowed the establishment of genetics in Mexico, in the laboratory, the clinic and in agronomy. I give three examples to illustrate how the cultural history of heredity has enlightened this work: the introduction and institutionalization of Mendelism in Mexico, the hereditarian ideas of medical doctors in the late nineteenth century, and the introduction of medical genetics in Mexico.}, } @article {pmid23888825, year = {2013}, author = {López-Beltrán, C}, title = {Exploring heredity: diachronic and synchronic connections.}, journal = {History and philosophy of the life sciences}, volume = {35}, number = {1}, pages = {45-50}, pmid = {23888825}, issn = {0391-9714}, mesh = {Genetics/*history ; *Heredity ; History, 20th Century ; History, 21st Century ; Humans ; }, abstract = {A brief description and evaluation of the contributions that Hans-Jörg Rheinberger has made to our understanding of the history of modern views of biological heredity is provided. Focusing on the efforts that Rheinberger and his close collaborator Staffan Miller-Wille, made to bring together previously scattered and unconnected scholarship and produce a unified and strikingly powerful account of the emergence of Heredity first and Genetics later as central explanatory resources for biological sciences, this paper tries to explain the importance of such efforts, and to contribute with suggestions for further work on these topics.}, } @article {pmid23853365, year = {2013}, author = {He, FH and Zhu, BY and Gao, F and Li, SS and Li, NH}, title = {[Research progress on the cloning of Mendel's gene in pea (Pisum sativum L.) and its application in genetics teaching].}, journal = {Yi chuan = Hereditas}, volume = {35}, number = {7}, pages = {931-938}, doi = {10.3724/sp.j.1005.2013.00931}, pmid = {23853365}, issn = {0253-9772}, mesh = {*Cloning, Molecular ; Genetic Linkage ; Genetics/*education ; Models, Genetic ; Peas/*genetics/growth & development ; Phenotype ; Plant Proteins/*genetics ; Teaching ; }, abstract = {One hundred and fifty years ago, Gregor Mendel investigated the segregation of seven traits in pea (Pisum sativum) and established the law of segregation and the law of independent assortment in genetics. After the two laws of genetics were rediscovered in 1900, the seven traits have been extensively investigated in the fields of plant physiology and biochemistry as well as in the cell and molecular levels. Recently, with the development of molecular technology in genetics, four genes for seed shape (R), stem length (Le), cotyledon colour (I), and flower colour (A) have been cloned and sequenced; and another three genes for immature pod colour (Gp), fasciation (Fa) and pod form (V) have been located in the linkage groups, respectively. The identification and cloning of the four Mendel's genes will help deeply understand the basic concept of gene in many respects: like the diversity of gene function, the different origins for gene mutation in molecular level, and the molecular nature of a dominant gene or a recessive gene. In teaching of genetics, the introduction of most recent research advancements of cloning of Mendel's genes to the students and the interpretation of the Mendel's laws in molecular level will help students promote their learning interests in genetics and help students grasp the whole content from classical genetics to molecular genetics and the developmental direction of this subject.}, } @article {pmid23698428, year = {2013}, author = {Begley, CG}, title = {Six red flags for suspect work.}, journal = {Nature}, volume = {497}, number = {7450}, pages = {433-434}, pmid = {23698428}, issn = {1476-4687}, mesh = {Data Interpretation, Statistical ; Indicators and Reagents/standards ; Observer Variation ; Quality Control ; Reproducibility of Results ; Research Design/*standards/*statistics & numerical data ; Scientific Misconduct/statistics & numerical data ; }, } @article {pmid23662420, year = {2013}, author = {Inge-Vechtomov, SG}, title = {[The template principle: paradigm of modern genetics].}, journal = {Genetika}, volume = {49}, number = {1}, pages = {9-15}, doi = {10.7868/s0016675813010050}, pmid = {23662420}, issn = {0016-6758}, mesh = {Genetic Phenomena ; Genetics/*history ; History, 20th Century ; *Models, Genetic ; }, abstract = {The idea of continuity in living systems, which was initially developed in mid-19th century, reached its peak in 1928 thanks to N.K. Koltsov, who proposed the template principle in chromosome reproduction. The determination of genetic functions of nucleic acids and the advent of molecular genetics led to F. Crick's statement of the central dogma of molecular biology in 1958. This dogma became a contemporary version of the template principle (templates of the first order). The discovery of "protein inheritance" underlay the notion of steric or conformational templates (second order) for reproducing conformation in a number of proteins. The template principle supplemented by this notion claims to be the main paradigm of modern genetics.}, } @article {pmid23408008, year = {2013}, author = {Esposito, M}, title = {Heredity, development and evolution: the unmodern synthesis of E.S. Russell.}, journal = {Theory in biosciences = Theorie in den Biowissenschaften}, volume = {132}, number = {3}, pages = {165-180}, pmid = {23408008}, issn = {1611-7530}, mesh = {Animals ; *Biological Evolution ; Developmental Biology/*history ; Europe ; Genetics/*history ; Heredity ; History, 19th Century ; History, 20th Century ; Humans ; Selection, Genetic ; }, abstract = {In 1930, while R.A. Fisher, J.B.S. Haldane, E.B. Ford and S.G. Wright were laying the foundations of what a decade later J.S. Huxley dubbed "Modern Synthesis", E.S. Russell published a groundbreaking work, The Interpretation of Development and Heredity. In this book Russell not only condemned Mendelian genetics and neo-Darwinism, but also proposed an alternative synthesis unifying heredity, development, and evolution. The book did not represent the work of a mind operating in isolation. Rather, it was a synthetic work connecting ideas and doctrines of many influential scientists working in Europe and the USA. Through the analysis of archival documents and rarely or never mentioned sources, this article provides an unconventional picture of Russell's theoretical biology. It will be shown that Russell was an international celebrity; he was at the centre of a large network of scholars who shared his ideas and insights. He was one of several biologists arguing for a different synthesis; a synthesis perhaps less visible, less institutionalised, and less 'modern', nevertheless with its influential advocates and international support. Finally, this study shows that Russell's synthesis was not rooted in the classic pantheon of towering figures in the history of biology, i.e. Darwin, Wallace, and Mendel, but was based on the teachings of Kant, Goethe, Cuvier, von Baer, and Müller.}, } @article {pmid23295656, year = {2012}, author = {Bovini, MG and Peixoto, AL}, title = {[Teaching, research, and extension service: botanist Honório da Costa Monteiro Filho].}, journal = {Historia, ciencias, saude--Manguinhos}, volume = {19}, number = {4}, pages = {1171-1190}, doi = {10.1590/s0104-59702012000400005}, pmid = {23295656}, issn = {0104-5970}, abstract = {The article revisits the work of Honório da Costa Monteiro Filho, highlighting his contribution to the study of economic botany and the taxonomy of Brazilian Malvaceae. Many of his seventy articles, are still cited. Yet little is known about his important role in educating agronomists involved with Brazilian flora and the creation of the Botanical Society of Brazil. These topics are discussed in the article, along with his work on a project to reform the teaching of agronomy in Brazil. The entire works of Monteiro Filho, archival documents, his correspondence with other scientists, and his observations on plant labels in herbaria were researched; interviews were also conducted with people with ties to him.}, } @article {pmid23079594, year = {2012}, author = {Birchler, JA}, title = {Messing with Mendel.}, journal = {Developmental cell}, volume = {23}, number = {4}, pages = {678-679}, doi = {10.1016/j.devcel.2012.10.004}, pmid = {23079594}, issn = {1878-1551}, abstract = {Paramutation, a phenomenon of epigenetic switching that violates Mendel's Law of Segregation, was first discovered in maize and later observed in other plants. In a recent report in Nature, de Vanssay and colleagues (2012) describe in Drosophila an operationally analogous phenomenon to paramutation that is mediated by piwi-interacting RNAs.}, } @article {pmid23062289, year = {2012}, author = {Johnson, W}, title = {Developmental genetics and psychopathology: some new feathers for a fine old hat.}, journal = {Development and psychopathology}, volume = {24}, number = {4}, pages = {1165-1177}, doi = {10.1017/S0954579412000624}, pmid = {23062289}, issn = {1469-2198}, support = {G0700704//Medical Research Council/United Kingdom ; //Biotechnology and Biological Sciences Research Council/United Kingdom ; }, mesh = {Adaptation, Biological ; Developmental Biology/history ; Epigenesis, Genetic ; Gene-Environment Interaction ; Genetic Variation ; Genetics/*history ; Growth and Development/*genetics ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Humans ; Mental Disorders/etiology/*genetics ; Personality/*genetics/physiology ; }, abstract = {Without even knowing of their existence, Mendel discovered how genes operate when they are completely penetrant, although they rarely are, at least with respect to human personality and psychopathology; yet quantitative genetics results have conclusively demonstrated their substantial macrolevel influence. Now we need to understand just how incompletely penetrant genes make their contributions to psychopathology. Exciting new developments in molecular genetics and epigenetics provide new insight into gene action in principle but have been of limited value so far in understanding the emergence of psychopathology. Some of the most helpful postulates might come from evolutionary and developmental biology and agricultural breeding experiments. I describe the all but forgotten evolutionary mechanisms articulated by Schmalhausen, a Russian evolutionary biologist whose work was suppressed by Stalin in the 1940s. I focus on Schmalhausen's law, the observation that organisms living in conditions at the boundary of their tolerance in any one aspect of existence will be vulnerable to expression of genetic liabilities related to all other aspects of existence. I show how Schmalhausen's ideas are relevant to the results of a century-long corn-breeding experiment and the current concepts of facilitated variation and cryptic genetic variation. I then discuss the relevance of all of these to understanding genetic influences on personality and psychopathology.}, } @article {pmid22964834, year = {2012}, author = {Edwards, AW}, title = {Reginald Crundall Punnett: first Arthur Balfour Professor of Genetics, Cambridge, 1912.}, journal = {Genetics}, volume = {192}, number = {1}, pages = {3-13}, pmid = {22964834}, issn = {1943-2631}, mesh = {Animals ; Genetic Linkage ; Genetics/*history ; Genetics, Population/history ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Humans ; United Kingdom ; }, abstract = {R. C. Punnett, the codiscoverer of linkage with W. Bateson in 1904, had the good fortune to be invited to be the first Arthur Balfour Professor of Genetics at Cambridge University, United Kingdom, in 1912 when Bateson, for whom it had been intended, declined to leave his new appointment as first Director of the John Innes Horticultural Institute. We here celebrate the centenary of the first professorship dedicated to genetics, outlining Punnett's career and his scientific contributions, with special reference to the discovery of "partial coupling" in the sweet pea (later "linkage") and to the diagram known as Punnett's square. His seeming reluctance as coauthor with Bateson to promote the reduplication hypothesis to explain the statistical evidence for linkage is stressed, as is his relationship with his successor as Arthur Balfour Professor, R. A. Fisher. The background to the establishment of the Professorship is also described.}, } @article {pmid22888285, year = {2012}, author = {Stark, A and Seneta, E}, title = {On S.N. Bernstein's derivation of Mendel's Law and 'rediscovery' of the Hardy-Weinberg distribution.}, journal = {Genetics and molecular biology}, volume = {35}, number = {2}, pages = {388-394}, pmid = {22888285}, issn = {1678-4685}, abstract = {Around 1923 the soon-to-be famous Soviet mathematician and probabilist Sergei N. Bernstein started to construct an axiomatic foundation of a theory of heredity. He began from the premise of stationarity (constancy of type proportions) from the first generation of offspring. This led him to derive the Mendelian coefficients of heredity. It appears that he had no direct influence on the subsequent development of population genetics. A basic assumption of Bernstein was that parents coupled randomly to produce offspring. This paper shows that a simple model of non-random mating, which nevertheless embodies a feature of the Hardy-Weinberg Law, can produce Mendelian coefficients of heredity while maintaining the population distribution. How W. Johannsen's monograph influenced Bernstein is discussed.}, } @article {pmid22855371, year = {2012}, author = {Simunek, M and Hoßfeld, U and Breidbach, O}, title = {'Further Development' of Mendel's legacy? Erich von Tschermak-Seysenegg in the context of Mendelian-biometry controversy, 1901-1906.}, journal = {Theory in biosciences = Theorie in den Biowissenschaften}, volume = {131}, number = {4}, pages = {243-252}, pmid = {22855371}, issn = {1611-7530}, mesh = {Biometry ; England ; Genetics/*history ; Heredity ; History, 19th Century ; History, 20th Century ; }, abstract = {The contribution of Erich von Tschermak-Seysenegg (1871-1962) to the beginning of classical genetics is a matter of dispute. The aim of this study is to analyse, based on newly accessible archive materials, the relevance of his positions and theoretical views in a debate between advocates of early Mendelian explanation of heredity and proponents of biometry, which took place in England around 1901-1906. We challenge not only his role of an 'external consultant', which at the time de facto confirmed his status of 'rediscoverer' of Mendel's work but also analyse his ambivalent positions which are to be seen as a part of 'further development' (Weiterführung), a development of Mendel's legacy as he understood it. Second, there is an interesting aspect of establishing connections within an 'experimental culture' along the Mendel's lines of thought that was parallel to the first step of institutionalizing the new discipline of Genetics after 1905/06. Part of the study is also the analysis of contribution of his older brother Armin von Tschermak-Seysenegg (1870-1952) who--much like in the case of 'rediscovery' of 1900-1901--was for his younger brother an important source of theoretical knowledge. In this particular case, it regarded Bateson's 'Defence' of Mendel from 1902.}, } @article {pmid22778406, year = {2012}, author = {Saupe, SJ}, title = {A fungal gene reinforces Mendel's laws by counteracting genetic cheating.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {109}, number = {30}, pages = {11900-11901}, pmid = {22778406}, issn = {1091-6490}, mesh = {Chromosome Segregation/*genetics ; Genes, Fungal/*genetics ; Inheritance Patterns/*genetics ; Neurospora/*genetics ; Spores, Fungal/*genetics ; }, } @article {pmid22661836, year = {2011}, author = {Nishteswar, K}, title = {Basavarajeeyam: A historical perspective.}, journal = {Ayu}, volume = {32}, number = {4}, pages = {458-460}, doi = {10.4103/0974-8520.96115}, pmid = {22661836}, issn = {0976-9382}, abstract = {Basavarajeeyam is an important handbook for an Ayurvedic physician of Andhra region. It is a bilingual work and the content was presented in Sanskrit and Telugu languages. With regard to the place and date of Basavarajeeyam there is no common opinion among the present day scholars. Pt Govardhana Sharma Changani in his introduction to the Sanskrit version of Basavarajeeyam exposed a historical profile of Basavrajeeyam picturising him as Basava who was a staunch follower of Veerashaivism and a contemporary of king Bijjala (end of 12(th) cent. AD). The same statement is carried out in the works of Ayurvedic Itihasa written by Atredeva Vidyawalkan and Acharya Priyavrata Sharma. It appears that the historical evidence shown by these scholars is one sided and cannot stand any reason. Basavraju stated that he had started writing this work after a thorough study of many works such as Charaka, Nithyanatheeyam (1360 AD), Revenakalpam, Pujyapadiyam, Bahatam, Kashikhandam (1435 AD) etc. Basavraju has faithfully reproduced certain chapter of Vaidyachintamani, which is considered to be a work of 15(th) century. Basavraju not only mentioned Phirangiroga in the index of diseases described by him at the end of the book, but also indicated Phirangichekka (Madhusnuhi) in the management of Meharoga and Granthi. By this evidence Basavarajiyam should be considered as the work of post Bhavaprakasha period. Basavraju indicates in the Gulmaroga Chikitsa that Sankhadravaka should be administered in the dose of 'Ekanni'. The name Ekanni was given for a copper coin which came in to circulation of money during British India produced from Madras mint (1794 AD). Based on these internal evidences, it can be safely concluded that Basavraju belong to 18(th)century.}, } @article {pmid22629235, year = {2012}, author = {Mneimneh, S}, title = {Crossing over...Markov meets Mendel.}, journal = {PLoS computational biology}, volume = {8}, number = {5}, pages = {1-12}, doi = {10.1371/journal.pcbi.1002462}, pmid = {22629235}, issn = {1553-7358}, mesh = {Animals ; *Biological Evolution ; Chromosomes/*genetics ; Computer Simulation ; Genetic Variation/*genetics ; Heredity/*genetics ; Humans ; *Markov Chains ; *Models, Genetic ; *Models, Statistical ; }, abstract = {Chromosomal crossover is a biological mechanism to combine parental traits. It is perhaps the first mechanism ever taught in any introductory biology class. The formulation of crossover, and resulting recombination, came about 100 years after Mendel's famous experiments. To a great extent, this formulation is consistent with the basic genetic findings of Mendel. More importantly, it provides a mathematical insight for his two laws (and corrects them). From a mathematical perspective, and while it retains similarities, genetic recombination guarantees diversity so that we do not rapidly converge to the same being. It is this diversity that made the study of biology possible. In particular, the problem of genetic mapping and linkage-one of the first efforts towards a computational approach to biology-relies heavily on the mathematical foundation of crossover and recombination. Nevertheless, as students we often overlook the mathematics of these phenomena. Emphasizing the mathematical aspect of Mendel's laws through crossover and recombination will prepare the students to make an early realization that biology, in addition to being experimental, IS a computational science. This can serve as a first step towards a broader curricular transformation in teaching biological sciences. I will show that a simple and modern treatment of Mendel's laws using a Markov chain will make this step possible, and it will only require basic college-level probability and calculus. My personal teaching experience confirms that students WANT to know Markov chains because they hear about them from bioinformaticists all the time. This entire exposition is based on three homework problems that I designed for a course in computational biology. A typical reader is, therefore, an instructional staff member or a student in a computational field (e.g., computer science, mathematics, statistics, computational biology, bioinformatics). However, other students may easily follow by omitting the mathematically more elaborate parts. I kept those as separate sections in the exposition.}, } @article {pmid22416212, year = {2012}, author = {Smith, GD}, title = {Mendel, fraud and the repeated analysis of data.}, journal = {QJM : monthly journal of the Association of Physicians}, volume = {105}, number = {7}, pages = {717-718}, doi = {10.1093/qjmed/hcs052}, pmid = {22416212}, issn = {1460-2393}, mesh = {Humans ; *Hybridization, Genetic ; Literature/*history ; Plants/*genetics ; }, } @article {pmid22326091, year = {2012}, author = {Edwards, AW}, title = {Punnett's square.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {43}, number = {1}, pages = {219-224}, doi = {10.1016/j.shpsc.2011.11.011}, pmid = {22326091}, issn = {1879-2499}, mesh = {*Crosses, Genetic ; England ; Genetics/*history ; *Genotype ; History, 19th Century ; History, 20th Century ; }, abstract = {The origin and development of Punnett's Square for the enumeration and display of genotypes arising in a cross in Mendelian genetics is described. Due to R. C. Punnett, the idea evolved through the work of the 'Cambridge geneticists', including Punnett's colleagues William Bateson, E. R. Saunders and R. H. Lock, soon after the rediscovery of Mendel's paper in 1900. These geneticists were thoroughly familiar with Mendel's paper, which itself contained a similar square diagram. A previously-unpublished three-factor diagram by Sir Francis Galton existing in the Bateson correspondence in Cambridge University Library is then described. Finally the connection between Punnett's Square and Venn Diagrams is emphasized, and it is pointed out that Punnett, Lock and John Venn overlapped as Fellows of Gonville and Caius College, Cambridge. Copious illustrations are given.}, } @article {pmid22227690, year = {2011}, author = {Yadrikhinskiy, AK and Bogdanova, VS}, title = {Nuclear-cytoplasm conflict in crosses of pea subspecies is controlled by alleles of a nuclear gene on linkage group III.}, journal = {Doklady biological sciences : proceedings of the Academy of Sciences of the USSR, Biological sciences sections}, volume = {441}, number = {}, pages = {396-399}, pmid = {22227690}, issn = {1608-3105}, mesh = {*Alleles ; Cell Nucleus/*genetics ; Chromosomes, Plant/genetics ; Crosses, Genetic ; Cytoplasm/*genetics ; *Genes, Plant ; Genetic Linkage ; Peas/*genetics ; Plant Infertility/*genetics ; }, } @article {pmid22157285, year = {2011}, author = {Pomerantz, MM and Freedman, ML}, title = {The genetics of cancer risk.}, journal = {Cancer journal (Sudbury, Mass.)}, volume = {17}, number = {6}, pages = {416-422}, pmid = {22157285}, issn = {1540-336X}, support = {R01 CA129435/CA/NCI NIH HHS/United States ; }, mesh = {Genetic Predisposition to Disease ; Humans ; Neoplasms/*genetics ; }, abstract = {One hundred years ago, decades before the discovery of the structure of DNA, debate raged regarding how human traits were passed from one generation to the next. Phenotypes, including risk of disease, had long been recognized as having a familial component. Yet it was difficult to reconcile genetic segregation as described by Mendel with observations exhaustively documented by Karl Pearson and others regarding the normal distribution of human characteristics. In 1918, R. A. Fisher published his landmark article, "The Correlation Between Relatives on the Supposition of Mendelian Inheritance," bridging this divide and demonstrating that multiple alleles, all individually obeying Mendel's laws, account for the phenotypic variation observed in nature.Since that time, geneticists have sought to identify the link between genotype and phenotype. Trait-associated alleles vary in their frequency and degree of penetrance. Some minor alleles may approach a frequency of 50% in the human population, whereas others are present within only a few individuals. The spectrum for penetrance is similarly wide. These characteristics jointly determine the segregation pattern of a given trait, which, in turn, determine the method used to map the trait. Until recently, identification of rare, highly penetrant alleles was most practical. Revolutionary studies in genomics reported over the past decade have made interrogation of most of the spectrum of genetic variation feasible.The following article reviews recent discoveries in the genetic basis of inherited cancer risk and how these discoveries inform cancer biology and patient management. Although this article focuses on prostate cancer, the principles are generic for any cancer and, indeed, for any trait.}, } @article {pmid22006558, year = {2012}, author = {Galton, DJ}, title = {Did Mendel falsify his data?.}, journal = {QJM : monthly journal of the Association of Physicians}, volume = {105}, number = {2}, pages = {215-216}, doi = {10.1093/qjmed/hcr195}, pmid = {22006558}, issn = {1460-2393}, mesh = {Data Interpretation, Statistical ; History, 19th Century ; History, 20th Century ; Humans ; *Hybridization, Genetic ; Literature/*history ; Plants/*genetics ; Research ; Scientific Misconduct ; }, } @article {pmid21972912, year = {2011}, author = {Simunek, M and Hossfeld, U and Wissemann, V}, title = {'Rediscovery' revised - the cooperation of Erich and Armin von Tschermak-Seysenegg in the context of the 'rediscovery' of Mendel's laws in 1899-1901.}, journal = {Plant biology (Stuttgart, Germany)}, volume = {13}, number = {6}, pages = {835-841}, doi = {10.1111/j.1438-8677.2011.00491.x}, pmid = {21972912}, issn = {1438-8677}, mesh = {Austria-Hungary ; Botany/history ; Genetics/*history ; History, 19th Century ; History, 20th Century ; Plants/*genetics ; }, abstract = {The 'rediscovery' of Mendel's laws in 1900 is seen as a turning point in modern research on heredity and genetics. In the first half of the 20th century it was generally held that the 'rediscovery' was made several times, independently, and in a parallel fashion by three European botanists (Carl Correns, Hugo de Vries and Erich von Tschermak-Seysenegg). Since the 1950s, however, serious questions have arisen concerning both the chronology and the specific conceptual contribution of the scientists involved. Not only the independence but also parallelism was analysed in the context of individual research programmes of all three of these scholars. The youngest of them, Austrian botanist Erich von Tschermak-Seysenegg, was excluded from the rank of 'rediscoverers'. It is the aim of this paper to use new archival evidence and add important facts both to the chronology and conceptual framework of Erich von Tschermak-Seysenegg's work. An entirely new aspect is added by identifying his older brother, the physiologist Armin von Tschermak-Seysenegg (1870-1952), as a significant spiritus movens of the events of 1900 and 1901. A selected part of their correspondence, covering the period from 13 March 1898 until 19 November 1901, is made available in transcriptions.}, } @article {pmid21962129, year = {2011}, author = {Pearn, J}, title = {Discovery and resolve: the Human Genetics Society of Australasia Oration 2011.}, journal = {Twin research and human genetics : the official journal of the International Society for Twin Studies}, volume = {14}, number = {5}, pages = {387-392}, doi = {10.1375/twin.14.5.387}, pmid = {21962129}, issn = {1832-4274}, mesh = {Animals ; Australasia ; Biological Evolution ; Genetics/*history ; Genetics, Medical/history ; History, 21st Century ; Humans ; Societies, Medical ; }, abstract = {Human genetics spans every facet of biology from molecular science, through laboratory and clinical practice, to psychology and anthropology. In each of these areas, the history of human genetics has been punctuated by paradigm shifts in knowledge. Each such new concept has been received with skepticism, often with perplexity, and sometimes with frank incredulity. Such comprise the datum milestones along the path leading to our present corpus of genetic knowledge. In parallel to the personal threats to Copernicus and Galileo in the field of astronomy in the 17th century, almost all genetic discoveries of the 19th and 20th centuries were seen as challenges to the received wisdom, and sometimes the social order, of their time and place. Researchers, scientists and clinicians encountering such new and often-heretical paradigm shifts have required considerable resolve to promote and publish their work. Just as in the field of astronomy, new directions in genetics have threatened not only the reputations and sometimes the careers of scientists, but also have been challenges to fundamental religious and sociological beliefs in society more broadly. Examples followed the discovery of biological sexual dimorphism (in plants as well as animals) by Nehemiah Grew (1641-1712). Darwinian evolution, Mendel's First and Second Laws, the existence of mitochondrial genes, apoptosis and its genetic basis, and uniparental disomy are more recent examples. Many of these new revelations, which today have led to the current understanding of fundamental biology, were discovered by individuals working in relative isolation. To promote and publish findings that fundamentally challenge received wisdom continues to require considerable resolve, if not courage. Herein lies a message for all clinicians and researchers.}, } @article {pmid21908742, year = {2011}, author = {Reid, JB and Ross, JJ}, title = {Mendel's genes: toward a full molecular characterization.}, journal = {Genetics}, volume = {189}, number = {1}, pages = {3-10}, pmid = {21908742}, issn = {1943-2631}, mesh = {Cotyledon/genetics ; Flowers/genetics ; *Genes, Plant ; Genetic Linkage ; Genetics/history ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Mutation/genetics ; Peas/*genetics/history/metabolism ; Phenotype ; Plant Stems/genetics ; Seeds/genetics ; }, abstract = {The discipline of classical genetics is founded on the hereditary behavior of the seven genes studied by Gregor Mendel. The advent of molecular techniques has unveiled much about the identity of these genes. To date, four genes have been sequenced: A (flower color), LE (stem length), I (cotyledon color), and R (seed shape). Two of the other three genes, GP (pod color) and FA (fasciation), are amenable to candidate gene approaches on the basis of their function, linkage relationships, and synteny between the pea and Medicago genomes. However, even the gene (locus) identity is not known for certain for the seventh character, the pod form, although it is probably V. While the nature of the mutations used by Mendel cannot be determined with certainty, on the basis of the varieties available in Europe in the 1850s, we can speculate on their nature. It turns out that these mutations are attributable to a range of causes-from simple base substitutions and changes to splice sites to the insertion of a transposon-like element. These findings provide a fascinating connection between Mendelian genetics and molecular biology that can be used very effectively in teaching new generations of geneticists. Mendel's characters also provide novel insights into the nature of the genes responsible for characteristics of agronomic and consumer importance.}, } @article {pmid21789954, year = {2011}, author = {Lorenzano, P}, title = {What would have happened if Darwin had known Mendel (or Mendel's work)?.}, journal = {History and philosophy of the life sciences}, volume = {33}, number = {1}, pages = {3-49}, pmid = {21789954}, issn = {0391-9714}, mesh = {Austria ; Biological Evolution ; England ; Genetic Research/*history ; History, 19th Century ; *Selection, Genetic ; }, abstract = {The question posed by the title is usually answered by saying that the "synthesis" between the theory of evolution by natural selection and classical genetics, which took place in 1930s-40s, would have taken place much earlier if Darwin had been aware of Mendel and his work. What is more, it nearly happened: it would have been enough if Darwin had cut the pages of the offprint of Mendel's work that was in his library and read them! Or, if Mendel had come across Darwin in London or paid him a visit at his house in the outskirts! (on occasion of Mendel's trip in 1862 to that city). The aim of the present paper is to provide elements for quite a different answer, based on further historical evidence, especially on Mendel's works, some of which mention Darwins's studies.}, } @article {pmid21775188, year = {2011}, author = {Ellis, TH and Hofer, JM and Timmerman-Vaughan, GM and Coyne, CJ and Hellens, RP}, title = {Mendel, 150 years on.}, journal = {Trends in plant science}, volume = {16}, number = {11}, pages = {590-596}, doi = {10.1016/j.tplants.2011.06.006}, pmid = {21775188}, issn = {1878-4372}, mesh = {Flowers/genetics ; Genes ; Genetic Linkage ; Genetics/*history ; History, 18th Century ; History, 19th Century ; Pigmentation/genetics ; Quantitative Trait, Heritable ; }, abstract = {Mendel's paper 'Versuche über Pflanzen-Hybriden' is the best known in a series of studies published in the late 18th and 19th centuries that built our understanding of the mechanism of inheritance. Mendel investigated the segregation of seven gene characters of pea (Pisum sativum), of which four have been identified. Here, we review what is known about the molecular nature of these genes, which encode enzymes (R and Le), a biochemical regulator (I) and a transcription factor (A). The mutations are: a transposon insertion (r), an amino acid insertion (i), a splice variant (a) and a missense mutation (le-1). The nature of the three remaining uncharacterized characters (green versus yellow pods, inflated versus constricted pods, and axial versus terminal flowers) is discussed.}, } @article {pmid21734813, year = {2011}, author = {Stark, A and Seneta, E}, title = {A.N. Kolmogorov's defence of Mendelism.}, journal = {Genetics and molecular biology}, volume = {34}, number = {2}, pages = {177-186}, pmid = {21734813}, issn = {1678-4685}, abstract = {In 1939 N.I. Ermolaeva published the results of an experiment which repeated parts of Mendel's classical experiments. On the basis of her experiment she concluded that Mendel's principle that self-pollination of hybrid plants gave rise to segregation proportions 3:1 was false. The great probability theorist A.N. Kolmogorov reviewed Ermolaeva's data using a test, now referred to as Kolmogorov's, or Kolmogorov-Smirnov, test, which he had proposed in 1933. He found, contrary to Ermolaeva, that her results clearly confirmed Mendel's principle. This paper shows that there were methodological flaws in Kolmogorov's statistical analysis and presents a substantially adjusted approach, which confirms his conclusions. Some historical commentary on the Lysenko-era background is given, to illuminate the relationship of the disciplines of genetics and statistics in the struggle against the prevailing politically-correct pseudoscience in the Soviet Union. There is a Brazilian connection through the person of Th. Dobzhansky.}, } @article {pmid21690179, year = {2011}, author = {Galton, DJ}, title = {Battling about equations.}, journal = {QJM : monthly journal of the Association of Physicians}, volume = {104}, number = {9}, pages = {823-825}, doi = {10.1093/qjmed/hcr096}, pmid = {21690179}, issn = {1460-2393}, mesh = {Genetics, Medical/*history ; History, 19th Century ; History, 20th Century ; Humans ; Inheritance Patterns/*genetics ; *Models, Genetic ; Quantitative Trait, Heritable ; }, } @article {pmid21656286, year = {2012}, author = {Wolfe, AJ}, title = {The cold war context of the golden jubilee, or, why we think of mendel as the father of genetics.}, journal = {Journal of the history of biology}, volume = {45}, number = {3}, pages = {389-414}, pmid = {21656286}, issn = {0022-5010}, abstract = {In September 1950, the Genetics Society of America (GSA) dedicated its annual meeting to a "Golden Jubilee of Genetics" that celebrated the 50th anniversary of the rediscovery of Mendel's work. This program, originally intended as a small ceremony attached to the coattails of the American Institute of Biological Sciences (AIBS) meeting, turned into a publicity juggernaut that generated coverage on Mendel and the accomplishments of Western genetics in countless newspapers and radio broadcasts. The Golden Jubilee merits historical attention as both an intriguing instance of scientific commemoration and as an early example of Cold War political theatre. Instead of condemning either Lysenko or Soviet genetics, the Golden Jubilee would celebrate Mendel - and, not coincidentally, the practical achievements in plant and animal breeding his work had made possible. The American geneticists' focus on the achievements of Western genetics as both practical and theoretical, international, and, above all, non-ideological and non-controversial, was fully intended to demonstrate the success of the Western model of science to both the American public and scientists abroad at a key transition point in the Cold War. An implicit part of this article's argument, therefore, is the pervasive impact of the Cold War in unanticipated corners of postwar scientific culture.}, } @article {pmid21528364, year = {2011}, author = {Hofer, HG}, title = {[Men in a critical age: Kurt Mendel and the controversy over the male climacterium].}, journal = {Der Urologe. Ausg. A}, volume = {50}, number = {7}, pages = {839-845}, pmid = {21528364}, issn = {1433-0563}, mesh = {Androgens/*deficiency/*history ; *Andropause ; Berlin ; Germany ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Humans ; Neurology/*history ; }, abstract = {Since the 1990s, with concepts like the male climacterium, andropause or PADAM, the idea of a"change of life" in men has gone through a spectacular reinvention. Recent research has focused upon the ways when, how and why these concepts emerged, thus taking cultural and historical approaches into account. This paper contributes to the growing corpus of such works. It sheds new light on the early decades of the twentieth century - a period that was decisive in establishing the modern, endocrinological understanding of the climacteric period as a result of hormonal deficiencies. Concurrently, this period saw several initiatives to conceptualize the male climacterium as a new and important diagnostic entity for health problems of men in their middle and later life. In Germany, the most important advocate was the Berlin neurologist Kurt Mendel, who published an influential article in 1910 entitled "The Change of Life in Men (Climacterium virile)". Mendel's concept evoked considerable interest and was much debated across medical disciplines, including neurology, psychiatry, sexology, endocrinology and urology. This article revisits and reassesses Mendel's concept of the male climacterium, discusses its specific status and significance, and places it within the historical context. Furthermore this, the paper argues that a historical approach is indispensable for a more nuanced understanding of the current arguments given to legitimize (or delegitimize) the status of a climacteric period in men.}, } @article {pmid21491970, year = {2011}, author = {Ubayasena, L and Bett, K and Tar'an, B and Warkentin, T}, title = {Genetic control and identification of QTLs associated with visual quality traits of field pea (Pisum sativum L.).}, journal = {Genome}, volume = {54}, number = {4}, pages = {261-272}, doi = {10.1139/g10-117}, pmid = {21491970}, issn = {1480-3321}, mesh = {Amplified Fragment Length Polymorphism Analysis ; Chromosome Mapping ; Chromosomes, Plant ; Genes, Plant/*genetics ; Genotype ; Inbreeding ; Peas/*genetics/physiology ; Phenotype ; Quantitative Trait Loci/*genetics ; Seeds/*genetics/physiology ; }, abstract = {Visual quality of field pea (Pisum sativum L.) is one of the most important determinants of the market value of the harvested crop. Seed coat color, seed shape, and seed dimpling are the major components of visual seed quality of field pea and are considered as important breeding objectives. The objectives of this research were to study the genetics and to identify quantitative trait loci (QTLs) associated with seed coat color, seed shape, and seed dimpling of green and yellow field peas. Two recombinant inbred line populations (RILs) consisting of 120 and 90 lines of F(5)-derived F(7) (F(5:7)) yellow pea (P. sativum 'Alfetta' × P. sativum 'CDC Bronco') and green pea (P. sativum 'Orb' × P. sativum 'CDC Striker'), respectively, were evaluated over two years at two locations in Saskatchewan, Canada. Quantitative inheritance with polygenic control and transgressive segregation were observed for all visual quality traits studied. All 90 RILs of the green pea population and 92 selected RILs from the yellow pea population were screened using AFLP and SSR markers and two linkage maps were developed. Nine QTLs controlling yellow seed lightness, 3 for yellow seed greenness, 15 for seed shape, and 9 for seed dimpling were detected. Among them, five QTLs located on LG II, LG IV, and LG VII were consistent in at least two environments. The QTLs and their associated markers will be useful tools to assist pea breeding programs attempting to pyramid positive alleles for the traits.}, } @article {pmid21486660, year = {2011}, author = {Skopek, JM}, title = {Principles, exemplars, and uses of history in early 20th century genetics.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {42}, number = {2}, pages = {210-225}, doi = {10.1016/j.shpsc.2010.11.016}, pmid = {21486660}, issn = {1879-2499}, mesh = {Americas ; Crosses, Genetic ; England ; Genetics/education/*history ; *Historiography ; History, 20th Century ; Models, Theoretical ; Textbooks as Topic/*history ; Universities/history ; }, abstract = {This paper is concerned with the uses of history in science. It focuses in particular on Anglo-American genetics and on university textbooks--where the canon of a science is consolidated, as the heterogeneous approaches and controversies of its practice are rendered unified for its reproduction. Tracing the emergence and eventual standardization of geneticists' use of a case-based method of teaching in the 1920s-1950s, this paper argues that geneticists created historical environments in their textbooks-spaces in which students developed an understanding of the laws of genetics through simulations of their discovery and use. Witnessing the unfolding of Mendel's and Morgan's experiments and performing genetic crosses on paper, students learned not only the rules that were explicitly taught as such, but also the experientially-based, tacit skills needed to find and follow these rules. This didactic system taught them how to go on when confronting new situations, and in doing so, provided geneticists with an important disciplinary tool, freeing the first steps of their student's enculturation from the physical infrastructure of the laboratory.}, } @article {pmid21451242, year = {2011}, author = {Liu, Y and Wang, G and Li, X}, title = {Michurin's legacy to biological science.}, journal = {Journal of biosciences}, volume = {36}, number = {1}, pages = {13-16}, pmid = {21451242}, issn = {0973-7138}, mesh = {Breeding/*history ; *Genetic Variation ; History, 20th Century ; *Hybridization, Genetic ; Inheritance Patterns/*genetics ; Plants/*genetics ; }, } @article {pmid21423339, year = {2011}, author = {Edwards, AW}, title = {Mathematizing Darwin.}, journal = {Behavioral ecology and sociobiology}, volume = {65}, number = {3}, pages = {421-430}, pmid = {21423339}, issn = {0340-5443}, abstract = {Ernst Mayr called the first part of the evolutionary synthesis the 'Fisherian synthesis' on account of the dominant role played by R.A. Fisher in forging a mathematical theory of natural selection together with J.B.S. Haldane and Sewall Wright in the decade 1922-1932. It is here argued that Fisher's contribution relied on a close reading of Darwin's work to a much greater extent than did the contributions of Haldane and Wright, that it was synthetic in contrast to their analytic approach and that it was greatly influenced by his friendship with the Darwin family, particularly with Charles's son Leonard.}, } @article {pmid21422299, year = {2011}, author = {Haber, JE}, title = {QnAs with James E. Haber.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {108}, number = {14}, pages = {5479}, pmid = {21422299}, issn = {1091-6490}, mesh = {*DNA Repair ; Genes, Mating Type, Fungal ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Saccharomycetales/*genetics ; }, } @article {pmid21317542, year = {2010}, author = {Suwabe, K and Suzuki, G and Watanabe, M}, title = {Achievement of genetics in plant reproduction research: the past decade for the coming decade.}, journal = {Genes & genetic systems}, volume = {85}, number = {5}, pages = {297-310}, doi = {10.1266/ggs.85.297}, pmid = {21317542}, issn = {1880-5779}, mesh = {Databases, Genetic ; *Genetic Research ; Ovule/genetics/metabolism ; Plants/*genetics ; Pollen/genetics/metabolism ; Reproduction/genetics ; Technology/methods/trends ; }, abstract = {In the last decade, a variety of innovations of emerging technologies in science have been accomplished. Advanced research environment in plant science has made it possible to obtain whole genome sequence in plant species. But now we recognize this by itself is not sufficient to understand the overall biological significance. Since Gregor Mendel established a principle of genetics, known as Mendel's Laws of Inheritance, genetics plays a prominent role in life science, and this aspect is indispensable even in modern plant biology. In this review, we focus on achievements of genetics on plant sexual reproduction research in the last decade and discuss the role of genetics for the coming decade. It is our hope that this will shed light on the importance of genetics in plant biology and provide valuable information to plant biologists.}, } @article {pmid21203911, year = {2010}, author = {Luo, G}, title = {The story of geneticist Hsien-Wen Li.}, journal = {Protein & cell}, volume = {1}, number = {8}, pages = {709-710}, doi = {10.1007/s13238-010-0092-0}, pmid = {21203911}, issn = {1674-8018}, mesh = {Breeding/history ; China ; Crops, Agricultural/genetics/history ; Genetics/*history ; History, 20th Century ; Humans ; Taiwan ; }, } @article {pmid21166799, year = {2010}, author = {Westerlund, JF and Fairbanks, DJ}, title = {Gregor Mendel's classic paper and the nature of science in genetics courses.}, journal = {Hereditas}, volume = {147}, number = {6}, pages = {293-303}, doi = {10.1111/j.1601-5223.2010.02199.x}, pmid = {21166799}, issn = {1601-5223}, mesh = {Genetic Techniques ; Genetics/*education/history ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Models, Educational ; Philosophy/history ; Science/*education/history ; }, abstract = {The discoveries of Gregor Mendel, as described by Mendel in his 1866 paper Versuche uber Pflanzen-Hybriden (Experiments on plant hybrids), can be used in undergraduate genetics and biology courses to engage students about specific nature of science characteristics and their relationship to four of his major contributions to genetics. The use of primary source literature as an instructional tool to enhance genetics students' understanding of the nature of science helps students more clearly understand how scientists work and how the science of genetics has evolved as a discipline. We offer a historical background of how the nature of science developed as a concept and show how Mendel's investigations of heredity can enrich biology and genetics courses by exemplifying the nature of science.}, } @article {pmid20977123, year = {2010}, author = {Keros, T and Borovecki, F and Jemersić, L and Konjević, D and Roić, B and Balatinec, J}, title = {The centenary progress of molecular genetics. A 100th anniversary of T. H. Morgan's discoveries.}, journal = {Collegium antropologicum}, volume = {34}, number = {3}, pages = {1167-1174}, pmid = {20977123}, issn = {0350-6134}, mesh = {Cytogenetics/*history ; History, 20th Century ; Humans ; }, abstract = {A century ago, Thomas Hunt Morgan, the American scientist, studied the cytogenetic changes of drosophila and came to cytogenetic explanation of Mendel's basic laws of genetic heredity. These studies resulted in today's Mendel-Morgan chromosomal theory of heredity. On the occasion of the hundredth anniversary of this important discovery the authors have decided to give a review of the most significant achievements in the field of molecular genetics until the completion of the Human Genome Project. The most important points concerning the technology of DNA recombination and genetic engineering are also presented. The final section discusses the significance of previous achievements of molecular genetics in biomedicine and other related fields. There is also a tabular presentation of the sequence of the most important findings in the field of molecular genetics through time.}, } @article {pmid20949001, year = {2010}, author = {Hellens, RP and Moreau, C and Lin-Wang, K and Schwinn, KE and Thomson, SJ and Fiers, MW and Frew, TJ and Murray, SR and Hofer, JM and Jacobs, JM and Davies, KM and Allan, AC and Bendahmane, A and Coyne, CJ and Timmerman-Vaughan, GM and Ellis, TH}, title = {Identification of Mendel's white flower character.}, journal = {PloS one}, volume = {5}, number = {10}, pages = {e13230}, pmid = {20949001}, issn = {1932-6203}, support = {//Biotechnology and Biological Sciences Research Council/United Kingdom ; }, mesh = {Alleles ; *Color ; Flowers/*genetics ; Genes, Plant ; Mutation ; RNA, Messenger/genetics ; }, abstract = {BACKGROUND: The genetic regulation of flower color has been widely studied, notably as a character used by Mendel and his predecessors in the study of inheritance in pea.

We used the genome sequence of model legumes, together with their known synteny to the pea genome to identify candidate genes for the A and A2 loci in pea. We then used a combination of genetic mapping, fast neutron mutant analysis, allelic diversity, transcript quantification and transient expression complementation studies to confirm the identity of the candidates.

CONCLUSIONS/SIGNIFICANCE: We have identified the pea genes A and A2. A is the factor determining anthocyanin pigmentation in pea that was used by Gregor Mendel 150 years ago in his study of inheritance. The A gene encodes a bHLH transcription factor. The white flowered mutant allele most likely used by Mendel is a simple G to A transition in a splice donor site that leads to a mis-spliced mRNA with a premature stop codon, and we have identified a second rare mutant allele. The A2 gene encodes a WD40 protein that is part of an evolutionarily conserved regulatory complex.}, } @article {pmid20665229, year = {2010}, author = {Onaga, L}, title = {Toyama Kametaro and Vernon Kellogg: silkworm inheritance experiments in Japan, Siam, and the United States, 1900-1912.}, journal = {Journal of the history of biology}, volume = {43}, number = {2}, pages = {215-264}, pmid = {20665229}, issn = {0022-5010}, mesh = {Agriculture/*history ; Animals ; Bombyx/*genetics ; Breeding ; Entomology/*history ; Genetic Research/*history ; History, 20th Century ; Japan ; Selection, Genetic ; United States ; }, abstract = {Japanese agricultural scientist Toyama Kametaro's report about the Mendelian inheritance of silkworm cocoon color in Studies on the Hybridology of Insects (1906) spurred changes in Japanese silk production and thrust Toyama and his work into a scholarly exchange with American entomologist Vernon Kellogg. Toyama's work, based on research conducted in Japan and Siam, came under international scrutiny at a time when analyses of inheritance flourished after the "rediscovery" of Mendel's laws of heredity in 1900. The hybrid silkworm studies in Asia attracted the attention of Kellogg, who was concerned with how experimental biology would be used to study the causes of natural selection. He challenged Toyama's conclusions that Mendelism alone could explain the inheritance patterns of silkworm characters such as cocoon color because they had been subject to hundreds of years of artificial selection, or breeding. This examination of the intersection of Japanese sericulture and American entomology probes how practical differences in scientific interests, societal responsibilities, and silkworm materiality were negotiated throughout the processes of legitimating Mendelian genetics on opposite sides of the Pacific. The ways in which Toyama and Kellogg assigned importance to certain silkworm properties show how conflicting intellectual orientations arose in studies of the same organism. Contestation about Mendelism took place not just on a theoretical level, but the debate was fashioned through each scientist's rationale about the categorization of silkworm breeds and races and what counted as "natural". This further mediated the acceptability of the silkworm not as an experimental organism, but as an appropriately "natural" insect with which to demonstrate laws of inheritance. All these shed light on the challenges that came along with the use of agricultural animals to convincingly articulate new biological principles.}, } @article {pmid20439276, year = {2010}, author = {Ellegren, H}, title = {'The Origin of Species--150 Years Later', June 2009, Fiskebäckskil, Sweden.}, journal = {Philosophical transactions of the Royal Society of London. Series B, Biological sciences}, volume = {365}, number = {1547}, pages = {1715}, doi = {10.1098/rstb.2010.0041}, pmid = {20439276}, issn = {1471-2970}, mesh = {*Biological Evolution ; Genetic Speciation ; Genetics/history ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Sweden ; }, } @article {pmid20391343, year = {2010}, author = {Sarikamiş, G and Yanmaz, R and Ermiş, S and Bakir, M and Yüksel, C}, title = {Genetic characterization of pea (Pisum sativum) germplasm from Turkey using morphological and SSR markers.}, journal = {Genetics and molecular research : GMR}, volume = {9}, number = {1}, pages = {591-600}, doi = {10.4238/vol9-1gmr762}, pmid = {20391343}, issn = {1676-5680}, mesh = {Alleles ; Gene Frequency/genetics ; Genetic Loci/genetics ; Genetic Markers ; Geography ; Heterozygote ; Minisatellite Repeats/*genetics ; Peas/anatomy & histology/*genetics ; Phenotype ; Quantitative Trait, Heritable ; Seeds/*genetics ; Turkey ; }, abstract = {The need for the conservation of plant genetic resources has been widely accepted. Germplasm characterization and evaluation yield information for more efficient utilization of these valuable resources. The aim of the present study was to characterize the pea germplasm conserved at the Aegean Agricultural Research Institute of Turkey using morphological and simple sequence repeat (SSR)-based molecular approaches. Genetic characterization of 30 pea genotypes collected from different regions of Turkey and 10 commercial pea cultivars was performed using the criteria of the International Union for the Protection of New Varieties of Plants (UPOV) (TG 7/9 Pisum sativum), and with 10 SSR markers. We originally tested 15 SSR markers; 10 of these markers were selected on the basis of high polymorphism information content in the molecular assays. Sixty-one alleles were detected at the 10 loci. The number of alleles per SSR locus ranged from 3 (PVSBE2) to 12 (AB53), with a mean of 6.1 alleles. The most informative loci were AB53 (12 alleles), AA355 (9 alleles), AD270 (8 alleles), A9 (7 alleles), AD61 (7 alleles), and AB25 (6 alleles). The UPGMA dendrogram defined by SSR markers revealed genetic relatedness of the pea genotypes. These findings can be used to guide future breeding studies and germplasm management of these pea genotypes.}, } @article {pmid20224623, year = {2010}, author = {Benestad, HB}, title = {[Scientific misconduct--serious, intentional or grossly negligent?].}, journal = {Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke}, volume = {130}, number = {5}, pages = {515-516}, doi = {10.4045/tidsskr.09.0868}, pmid = {20224623}, issn = {0807-7096}, mesh = {Ethics, Research ; History, 19th Century ; History, 20th Century ; Humans ; Norway ; *Scientific Misconduct/ethics/history/legislation & jurisprudence ; }, } @article {pmid20186254, year = {2010}, author = {Dhar, PK and Giuliani, A}, title = {Laws of biology: why so few?.}, journal = {Systems and synthetic biology}, volume = {4}, number = {1}, pages = {7-13}, pmid = {20186254}, issn = {1872-5333}, abstract = {Finding fundamental organizing principles is the current intellectual front end of systems biology. From a hydrogen atom to the whole cell level, organisms manage massively parallel and massively interactive processes over several orders of magnitude of size. To manage this scale of informational complexity it is natural to expect organizing principles that determine higher order behavior. Currently, there are only hints of such organizing principles but no absolute evidences. Here, we present an approach as old as Mendel that could help uncover fundamental organizing principles in biology. Our approach essentially consists of identifying constants at various levels and weaving them into a hierarchical chassis. As we identify and organize constants, from pair-wise interactions to networks, our understanding of the fundamental principles in biology will improve, leading to a theory in biology.}, } @article {pmid20176586, year = {2010}, author = {Bodmer, WF}, title = {Commentary: Connections between genetics and statistics: a commentary on Fisher's 1951 Bateson lecture--'Statistical Methods in Genetics'.}, journal = {International journal of epidemiology}, volume = {39}, number = {2}, pages = {340-344}, doi = {10.1093/ije/dyq014}, pmid = {20176586}, issn = {1464-3685}, mesh = {Genetics/*history ; History, 20th Century ; Statistics as Topic/*history ; }, } @article {pmid20176584, year = {2010}, author = {Fisher Box, J}, title = {Commentary: on RA Fisher's Bateson lecture on statistical methods in genetics.}, journal = {International journal of epidemiology}, volume = {39}, number = {2}, pages = {335-339}, doi = {10.1093/ije/dyp376}, pmid = {20176584}, issn = {1464-3685}, mesh = {Animals ; England ; Genetics/*history ; History, 20th Century ; Humans ; Mutation ; Statistics as Topic/*history ; }, } @article {pmid20066782, year = {2009}, author = {Bjerre, J}, title = {[About Freud's scientific misconduct].}, journal = {Ugeskrift for laeger}, volume = {171}, number = {51}, pages = {3814}, pmid = {20066782}, issn = {1603-6824}, mesh = {Austria ; Diagnostic Errors/history ; History, 19th Century ; History, 20th Century ; Humans ; London ; Physicians/history ; *Scientific Misconduct/history ; }, } @article {pmid21603087, year = {2010}, author = {Halberg, F and Cornélissen, G and Katinas, GS and Watanabe, Y and Siegelová, J}, title = {COSMIC INHERITANCE RULES: IMPLICATIONS FOR HEALTH CARE AND SCIENCE.}, journal = {Scripta medica}, volume = {83}, number = {1}, pages = {5-15}, pmid = {21603087}, issn = {1211-3395}, support = {K06 GM013981/GM/NIGMS NIH HHS/United States ; K06 GM013981-48/GM/NIGMS NIH HHS/United States ; }, abstract = {Countering the trend in specialization, we advocate the trans-disciplinary monitoring of blood pressure and heart rate for signatures of environmental cyclic and other variabilities in space as well as terrestrial weather on the one hand, and for surveillance of personal and societal health on the other hand. New rules (if confirmed novel laws) emerge as we recognize our inheritance from the cosmos of cycles that constitute and characterize life and align them with inheritance from parents. In so doing, we happen to follow the endeavors of Gregor Mendel, who recognized the segregation and independent assortment of what became known as genes. Circadians, rhythms with periods, τ, between 20 and 28 hours, and cycles with frequencies that are higher (ultradian) or lower (infradian) than circadian, are genetically anchored. An accumulating long list of very important but aeolian (nonstationary) infradian cycles, characterizing the incidence patterns of sudden cardiac death, suicide and terrorism, with drastically different τs, constitutes the nonphotic (corpuscular emission from the sun, heliogeomagnetics, ultraviolet flux, gravitation) Cornélissen-series.}, } @article {pmid19811718, year = {2009}, author = {Tang, BH}, title = {Fisher-Mendel controversy in genetics: scientific argument, intellectual integrity, a fair society, Western falls and bioethical evaluation.}, journal = {Journal of the College of Physicians and Surgeons--Pakistan : JCPSP}, volume = {19}, number = {10}, pages = {649-654}, doi = {10.2009/JCPSP.649654}, pmid = {19811718}, issn = {1022-386X}, mesh = {Bioethics/*history ; Biological Evolution ; Dissent and Disputes/*history ; Eugenics/*history ; Genetics/*history ; History, 20th Century ; Humans ; Models, Genetic ; Political Systems/history ; }, abstract = {This review article aims to discuss and analyze the background and findings regarding Fisher-Mendel Controversy in Genetics and to elucidate the scientific argument and intellectual integrity involved, as well as their importance in a fair society, and the lesson of Western falls as learned. At the onset of this review, the kernel of Mendel-Fisher Controversy is dissected and then identified. The fact of an organizational restructuring that had never gone towards a happy synchronization for the ensuing years since 1933 is demonstrated. It was at that time after Fisher succeeded Karl Pearson not only as the Francis Galton Professor of Eugenics but also as the chief of the Galton Laboratory at University College, London. The academic style of eugenics in the late 19th and early 20th centuries in the UK is then introduced. Fisher's ideology at that time, with its effects on the human value system and policy-making at that juncture are portrayed. Bioethical assessment is provided. Lessons in history, the emergence of the Eastern phenomenon and the decline of the Western power are outlined.}, } @article {pmid19697075, year = {2009}, author = {Forsdyke, DR}, title = {Scherrer and Jost's symposium: the gene concept in 2008.}, journal = {Theory in biosciences = Theorie in den Biowissenschaften}, volume = {128}, number = {3}, pages = {157-161}, pmid = {19697075}, issn = {1611-7530}, mesh = {Biology ; Codon ; Computational Biology ; Evolution, Molecular ; *Gene Expression Regulation ; *Genes ; *Genetics ; Genome ; Heredity ; Herpesvirus 4, Human/genetics ; Information Theory ; Models, Genetic ; Mutation ; Phenotype ; }, abstract = {Reconsideration of the term "gene" should take into account (a) the potential clash between hierarchical levels of information discussed in the 1970s by Gregory Bateson, (b) the contrast between conventional and genome phenotypes discussed in the 1980s by Richard Grantham, and (c) the emergence in the 1990s of a new science--Evolutionary Bioinformatics--that views genomes as channels conveying multiple forms of information through the generations. From this perspective, there is conceptual continuity between the functional "gene" of Mendel and today's GenBank sequences. If the function attributed to a gene can change specifically as the result of a DNA mutation, then the mutated part of DNA can be considered as part of the gene. Conversely, even if appearing to locate within a gene, a mutation that does not change the specific function is not part of the gene, although it may change some other function to which the DNA sequence contributes. This strict definition is impractical, but serves as a guide to more workable, context-dependent, definitions. The gene is either (1) The DNA sequence that is transcribed, (2) The latter plus the immediate 5' and 3' sequences that, when mutated, specifically affect the function, (3) The latter two, plus any remote sequences that, when mutated, specifically affect the function. Attempts, such as that of Scherrer and Jost, to redefine Mendel's "gene," may be too narrowly focused on regulation to the exclusion of other important themes.}, } @article {pmid19494029, year = {2009}, author = {Orel, V}, title = {The "useful questions of heredity" before Mendel.}, journal = {The Journal of heredity}, volume = {100}, number = {4}, pages = {421-423}, doi = {10.1093/jhered/esp022}, pmid = {19494029}, issn = {1465-7333}, mesh = {Animals ; Breeding/history ; Europe ; Genetics/*history ; *Heredity ; History, 18th Century ; History, 19th Century ; Inbreeding ; Sheep ; }, abstract = {Now Emeritus Head of the Mendelianum (Mendel Museum) in Brno, Czech Republic, Vítezslav Orel began his academic career as a student at the Brno Agriculture University. His work was interrupted first by the Nazi invasion and then by the communist revolution, when the science of genetics was denounced and replaced by Lysenko pseudogenetics. V. O. was dismissed from his position at the Poultry Research Institute and assigned to work at a small duck farm outside Brno. When the "Lysenkoist madness" subsided, Professor Jaroslav Krizenecky (1896-1964), teacher of V. O., was allowed to develop the museum in recognition of Mendel's contributions. V. O. assisted him by conducting research on the history of Mendel and of genetics. On Jaroslav Krizenecky's death, V. O. became head of the Mendelianum. V. O. has become an internationally recognized figure in the study of the history of science, having published nearly 200 papers in Czech and 10 other languages. Orel's most recent books, published by Oxford University Press, make use of the rich archives of the Mendelianum that he helped create. Gregor Mendel-The First Geneticist (Orel 1996) is the definitive biography of Mendel, and in 2001, V. O. and co-author R. J. Wood published Genetic Prehistory in Selective Breeding: A Prelude to Mendel. (Biography from Margaret H. Peaslee).}, } @article {pmid19291260, year = {2009}, author = {Howard, JC}, title = {Why didn't Darwin discover Mendel's laws?.}, journal = {Journal of biology}, volume = {8}, number = {2}, pages = {15}, pmid = {19291260}, issn = {1475-4924}, mesh = {Crosses, Genetic ; Evolution, Molecular ; Flowers/anatomy & histology/*genetics/growth & development ; Genotype ; Phenotype ; Primula/anatomy & histology/*genetics/growth & development ; }, abstract = {Darwin's focus on small quantitative variations as the raw material of evolution may have prevented him from discovering the laws of inheritance.}, } @article {pmid19244846, year = {2008}, author = {Tabery, J}, title = {R. A. Fisher, Lancelot Hogben, and the origin(s) of genotype-environment interaction.}, journal = {Journal of the history of biology}, volume = {41}, number = {4}, pages = {717-761}, pmid = {19244846}, issn = {0022-5010}, mesh = {Analysis of Variance ; Animals ; Biometry/*history ; *Environment ; Genetics, Population/*history ; *Genotype ; History, 20th Century ; Humans ; Intelligence/genetics ; United Kingdom ; }, abstract = {This essay examines the origin(s) of genotype-environment interaction, or G x E. "Origin(s)" and not "the origin" because the thesis is that there were actually two distinct concepts of G x E at this beginning: a biometric concept, or G x EB, and a developmental concept, or G x ED. R. A. Fisher, one of the founders of population genetics and the creator of the statistical analysis of variance, introduced the biometric concept as he attempted to resolve one of the main problems in the biometric tradition of biology--partitioning the relative contributions of nature and nurture responsible for variation in a population. Lancelot Hogben, an experimental embryologist and also a statistician, introduced the developmental concept as he attempted to resolve one of the main problems in the developmental tradition of biology--determining the role that developmental relationships between genotype and environment played in the generation of variation. To argue for this thesis, I outline Fisher and Hogben's separate routes to their respective concepts of G x E; then these separate interpretations of G x E are drawn on to explicate a debate between Fisher and Hogben over the importance of G x E, the first installment of a persistent controversy. Finally, Fisher's G x EB and Hogben's G x ED are traced beyond their own work into mid-20th century population and developmental genetics, and then into the infamous IQ Controversy of the 1970s.}, } @article {pmid18836847, year = {2008}, author = {Rosenberg, LE}, title = {Legacies of Garrod's brilliance. One hundred years--and counting.}, journal = {Journal of inherited metabolic disease}, volume = {31}, number = {5}, pages = {574-579}, pmid = {18836847}, issn = {1573-2665}, mesh = {Causality ; History, 19th Century ; History, 20th Century ; Humans ; London ; Metabolism, Inborn Errors/*history ; Universities/history ; }, abstract = {One hundred years ago--in 1908--Archibald Garrod delivered his four Croonian Lectures. In these formerly forgotten, but now famous, dissertations, Garrod first used the expression, 'inborn errors of metabolism', to describe four rare disorders: albinism, alkaptonuria, cystinuria, and pentosuria. This prescient work proposed that such disorders resulted from enzymatic defects in the catabolic pathways for amino acids and sugars. Thus, Garrod can rightfully be called the first human geneticist. Much influenced by his colleague Bateson, who brought Mendel's work to his attention, Garrod then was the first to apply Gregor Mendel's law of gene segregation to humans, the first to propose recessive inheritance in humans, and the first to point out the importance of consanguinity. He even mentioned the role of ethnicity in inherited disorders. This would have been legacy enough, but Garrod did much more. He wrote about such other 'modern' topics as genetic predisposition to common disorders; the critical importance of physicians who were also scientists; and the proper role of the university in society. Although Garrod's work and ideas were not appreciated during his lifetime, they have echoed and reverberated ever since. He can rightly be deemed one of the most profound intellectuals of the 20th century, whose bequests to science and medicine continue to increase in value. All of us who study inborn errors of metabolism and who apply our knowledge in the hope of improving the diagnosis and treatment of affected patients are, in a genuine sense, Garrodians.}, } @article {pmid18779227, year = {2009}, author = {Stansfield, WD}, title = {Mendel's search for true-breeding hybrids.}, journal = {The Journal of heredity}, volume = {100}, number = {1}, pages = {2-6}, doi = {10.1093/jhered/esn066}, pmid = {18779227}, issn = {1465-7333}, mesh = {Breeding/*history ; *Chimera ; Evolution, Molecular ; Genetics/*history ; History, 19th Century ; History, 20th Century ; Hybridization, Genetic/*genetics ; Plants/*genetics ; }, } @article {pmid18762442, year = {2008}, author = {Szczyglowski, K and Stougaard, J}, title = {Lotus genome: pod of gold for legume research.}, journal = {Trends in plant science}, volume = {13}, number = {10}, pages = {515-517}, doi = {10.1016/j.tplants.2008.08.001}, pmid = {18762442}, issn = {1360-1385}, mesh = {Crops, Agricultural/genetics ; *Genome, Plant ; Lotus/*genetics ; }, abstract = {Gregor Mendel's study of the common garden pea (Pisum sativum) provided the fundamentals for modern genetics and plant breeding and highlighted the utility and value of model organisms. One hundred and forty-three years later, insight into the genome structure of a model legume, Lotus japonicus, might provide the key to sustainable agriculture.}, } @article {pmid18564509, year = {2007}, author = {Barahona, A}, title = {Science and representation: the case of genetic maps.}, journal = {History and philosophy of the life sciences}, volume = {29}, number = {2}, pages = {145-159}, pmid = {18564509}, issn = {0391-9714}, mesh = {*Chromosome Mapping ; Genetic Linkage ; Humans ; Hybridization, Genetic/*genetics ; Mutation ; *Sex Chromosomes ; }, abstract = {At the beginning of the 20th century, the main objective of Mendelian hybridization was, through controlled crosses, to attain the expression of desired "factors", for example in crop improvement. Because of these aims, Mendel's principles were adopted faster among agronomists than academic sectors. The change from the Mendelian conception of factors to the first genetic maps consisted in looking at genes not as abstract and functional entities like in Mendelian studies, but to visualise them as dots on a line, as dots on a map in classical genetics. What genes could do wasn't any more the core interest; their localization on a map was privileged. This new conception was followed by a new way to study, interpret and represent the inheritance phenomena, also, a new way to conduct experiments different from Mendelian hybridization. The construction of the first genetic maps and their representations were a successful means to study, explain and represent different inheritance issues and was a new way in which genetic studies could be done. At the beginning, these maps were hypothetical representations that facilitated the handling of empirical data as well as the classification of mutants. Later on, the culture of mapping strongly contributed to the understanding of the mechanics of chromosomes and the hereditary transmission.}, } @article {pmid18511779, year = {2008}, author = {Day, M}, title = {Italian police arrest drug agency officials over alleged falsification of data.}, journal = {BMJ (Clinical research ed.)}, volume = {336}, number = {7655}, pages = {1208-1209}, doi = {10.1136/bmj.39591.450856.DB}, pmid = {18511779}, issn = {1756-1833}, mesh = {Drug Approval/*legislation & jurisprudence ; Government Agencies/*legislation & jurisprudence ; Italy ; Police ; Scientific Misconduct/*legislation & jurisprudence ; }, } @article {pmid18444601, year = {2007}, author = {Bokhari, FA and Sami, W}, title = {Did Mendel cheat?.}, journal = {Journal of Ayub Medical College, Abbottabad : JAMC}, volume = {19}, number = {3}, pages = {96}, pmid = {18444601}, issn = {1025-9589}, mesh = {Fraud ; Genetics/*history ; History, 19th Century ; Statistics as Topic ; }, } @article {pmid18376067, year = {2008}, author = {Morange, M}, title = {What history tells us XII. Boris Ephrussi's continuing efforts to create a "genetics of differentiation".}, journal = {Journal of biosciences}, volume = {33}, number = {1}, pages = {21-25}, pmid = {18376067}, issn = {0250-5991}, mesh = {Animals ; Cell Differentiation/*genetics ; Cell Line, Tumor ; Clone Cells ; Extrachromosomal Inheritance/genetics ; Genetics/*history ; History, 20th Century ; Humans ; Hybrid Cells/cytology ; Teratocarcinoma/genetics ; }, } @article {pmid18344463, year = {2008}, author = {Keynes, M and Cox, TM}, title = {William Bateson, the rediscoverer of Mendel.}, journal = {Journal of the Royal Society of Medicine}, volume = {101}, number = {3}, pages = {104}, pmid = {18344463}, issn = {0141-0768}, mesh = {Genetic Linkage/*genetics ; Genetics/*history ; History, 19th Century ; History, 20th Century ; Humans ; Mutation/*genetics ; }, } @article {pmid18290360, year = {2007}, author = {Thurtle, P}, title = {The poetics of life: Luther Burbank, horticultural novelties, and the spaces of heredity.}, journal = {Literature and medicine}, volume = {26}, number = {1}, pages = {1-24}, doi = {10.1353/lm.2008.0005}, pmid = {18290360}, issn = {0278-9671}, mesh = {*Agriculture ; Heredity/*genetics ; History, 19th Century ; Humans ; Male ; Plants/*genetics ; }, } @article {pmid18268510, year = {2008}, author = {Satzinger, H}, title = {Theodor and Marcella Boveri: chromosomes and cytoplasm in heredity and development.}, journal = {Nature reviews. Genetics}, volume = {9}, number = {3}, pages = {231-238}, doi = {10.1038/nrg2311}, pmid = {18268510}, issn = {1471-0064}, mesh = {Cell Division ; Chromosome Disorders ; Chromosomes/*genetics ; Cytoplasm/genetics ; Genetics/*history ; History, 19th Century ; History, 20th Century ; }, abstract = {The chromosome theory of heredity, developed in 1902-1904, became one of the foundation stones of twentieth-century genetics. It is usually referred to as the Sutton-Boveri theory after Walter Sutton and Theodor Boveri. However, the contributions of Theodor Boveri and his co-worker, Marcella O'Grady Boveri (also his wife), to the understanding of heredity and development go beyond the localization of the Mendelian hereditary factors onto the chromosomes. They investigated the interaction of cytoplasm and chromosomes, and demonstrated its relevance in heredity and development.}, } @article {pmid18175604, year = {2007}, author = {Hall, NS}, title = {R. A. Fisher and his advocacy of randomization.}, journal = {Journal of the history of biology}, volume = {40}, number = {2}, pages = {295-325}, pmid = {18175604}, issn = {0022-5010}, mesh = {History, 19th Century ; History, 20th Century ; Humans ; Random Allocation ; Randomized Controlled Trials as Topic/*history ; Research Design ; }, abstract = {The requirement of randomization in experimental design was first stated by R. A. Fisher, statistician and geneticist, in 1925 in his book Statistical Methods for Research Workers. Earlier designs were systematic and involved the judgment of the experimenter; this led to possible bias and inaccurate interpretation of the data. Fisher's dictum was that randomization eliminates bias and permits a valid test of significance. Randomization in experimenting had been used by Charles Sanders Peirce in 1885 but the practice was not continued. Fisher developed his concepts of randomizing as he considered the mathematics of small samples, in discussions with "Student," William Sealy Gosset. Fisher published extensively. His principles of experimental design were spread worldwide by the many "voluntary workers" who came from other institutions to Rothamsted Agricultural Station in England to learn Fisher's methods.}, } @article {pmid22533058, year = {2008}, author = {Volpone, A}, title = {[The beginnings of genetics in Italy (1903-1940). A reconnaissance].}, journal = {Physis; rivista internazionale di storia della scienza}, volume = {45}, number = {1-2}, pages = {133-163}, pmid = {22533058}, issn = {0031-9414}, mesh = {Austria ; Awards and Prizes ; Botany/history ; Evolution, Molecular ; Genetics/history ; Genetics, Medical/*history ; Heredity/genetics ; History, 19th Century ; History, 20th Century ; Humans ; Italy ; *Plants/genetics ; United States ; }, abstract = {The spreading of Mendelism in Italy produced a sort of "Mendelization" of already existing studies and research on the subject of heredity, which received a new impetus. This was the origin of genetics. There followed a "Morganization" process of the field, when the mere formal-genealogical analysis became substituted by laboratory research. The first phase began with the rediscovery of Mendel's laws, and its strong point ever since the beginning was in agrarian research. The second phase began after 1925, following upon the conclusion of a heated pre-war debate on the subject of nuclear cytology. Various Italian scholars raised strong objections against the so-called Sutton-Boveri hypothesis, of which the successive Morgan et al. chromosomal theory of inheritance was initially understood, or misunderstood, to be a specious extension. The resulting controversy is that which most characterized the history of genetics in Italy during the first part of the twentieth century, and conditioned its development.}, } @article {pmid18073445, year = {2007}, author = {Fairbanks, DJ and Schaalje, GB}, title = {The tetrad-pollen model fails to explain the bias in Mendel's pea (Pisum sativum) experiments.}, journal = {Genetics}, volume = {177}, number = {4}, pages = {2531-2534}, pmid = {18073445}, issn = {0016-6731}, mesh = {Bias ; Binomial Distribution ; *Models, Genetic ; Peas/*genetics ; Pollen/genetics ; Pollination/*genetics ; }, abstract = {For >40 years, geneticists and science historians have appealed to the tetrad-pollen model as an explanation of the bias toward expectation in Mendel's data, albeit without experimental support. Our experiments demonstrate that pollen sampling during self-pollination in pea conforms to the binomial distribution with no evidence of a tetrad-pollen effect.}, } @article {pmid17893692, year = {2007}, author = {Richmond, ML}, title = {Opportunities for women in early genetics.}, journal = {Nature reviews. Genetics}, volume = {8}, number = {11}, pages = {897-902}, doi = {10.1038/nrg2200}, pmid = {17893692}, issn = {1471-0064}, mesh = {Animals ; Female ; *Gender Identity ; Genetics/*history ; History, 19th Century ; History, 20th Century ; Humans ; Research Personnel/*history ; Women, Working/*history ; }, abstract = {Although women have long been engaged in science, their participation in large numbers was limited until they gained access to higher education in the last decades of the nineteenth century. The rediscovery of Mendel's work in 1900 coincided with the availability of a well trained female scientific workforce, and women entered the new field in significant numbers. Exploring their activities reveals much about the early development of the field that soon revolutionized biology, and about the role of gender in the social organization of science.}, } @article {pmid17893069, year = {2007}, author = {Pilpel, A}, title = {Statistics is not enough: revisiting Ronald A. Fisher's critique (1936) of Mendel's experimental results (1866).}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {38}, number = {3}, pages = {618-626}, doi = {10.1016/j.shpsc.2007.06.009}, pmid = {17893069}, issn = {1369-8486}, mesh = {Genetic Research ; Genetics/statistics & numerical data ; History, 19th Century ; Humans ; Israel ; Male ; Peas/genetics ; *Reproducibility of Results ; *Statistics as Topic ; }, abstract = {This paper is concerned with the role of rational belief change theory in the philosophical understanding of experimental error. Today, philosophers seek insight about error in the investigation of specific experiments, rather than in general theories. Nevertheless, rational belief change theory adds to our understanding of just such cases: R. A. Fisher's criticism of Mendel's experiments being a case in point. After an historical introduction, the main part of this paper investigates Fisher's paper from the point of view of rational belief change theory: what changes of belief about Mendel's experiment does Fisher go through and with what justification. It leads to surprising insights about what Fisher had done right and wrong, and, more generally, about the limits of statistical methods in detecting error.}, } @article {pmid17709752, year = {2007}, author = {Sato, Y and Morita, R and Nishimura, M and Yamaguchi, H and Kusaba, M}, title = {Mendel's green cotyledon gene encodes a positive regulator of the chlorophyll-degrading pathway.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {104}, number = {35}, pages = {14169-14174}, pmid = {17709752}, issn = {0027-8424}, support = {H23 IP001011/IP/NCIRD CDC HHS/United States ; }, mesh = {Chlorophyll/*metabolism ; Cotyledon/*genetics ; Gene Expression Regulation, Plant ; Homeostasis ; Membrane Potentials/physiology ; Models, Genetic ; Molecular Sequence Data ; Mutation ; Peas/genetics ; Photosynthesis ; Plant Leaves/genetics ; }, abstract = {Mutants that retain greenness of leaves during senescence are known as "stay-green" mutants. The most famous stay-green mutant is Mendel's green cotyledon pea, one of the mutants used in determining the law of genetics. Pea plants homozygous for this recessive mutation (known as i at present) retain greenness of the cotyledon during seed maturation and of leaves during senescence. We found tight linkage between the I locus and stay-green gene originally found in rice, SGR. Molecular analysis of three i alleles including one with no SGR expression confirmed that the I gene encodes SGR in pea. Functional analysis of sgr mutants in pea and rice further revealed that leaf functionality is lowered despite a high chlorophyll a (Chl a) and chlorophyll b (Chl b) content in the late stage of senescence, suggesting that SGR is primarily involved in Chl degradation. Consistent with this observation, a wide range of Chl-protein complexes, but not the ribulose-1,5-bisphosphate carboxylase/oxygenase (Rubisco) large subunit, were shown to be more stable in sgr than wild-type plants. The expression of OsCHL and NYC1, which encode the first enzymes in the degrading pathways of Chl a and Chl b, respectively, was not affected by sgr in rice. The results suggest that SGR might be involved in activation of the Chl-degrading pathway during leaf senescence through translational or posttranslational regulation of Chl-degrading enzymes.}, } @article {pmid17690761, year = {2007}, author = {Peaslee, MH and Orel, V}, title = {The evolutionary ideas of F. M. (Ladimir) Klacel, teacher of Gregor Mendel.}, journal = {Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia}, volume = {151}, number = {1}, pages = {151-155}, doi = {10.5507/bp.2007.030}, pmid = {17690761}, issn = {1213-8118}, mesh = {Animals ; *Biological Evolution ; Czech Republic ; Genetics/*history ; History, 19th Century ; Humans ; United States ; }, abstract = {Abstract: A philosopher and teacher, F. M. (Ladimir) Klacel (1808-1882), educated in what is now the Czech Republic, developed his own explanation for the origin and interaction of living organisms. Klácel, a member of the Augustinian Monastery in Brno, influenced his younger colleague, Friar Gregor Mendel, who went on to formulate concepts in heredity that are still recognized for their profound insight. A mutual interest in the natural sciences of these two friends provided a basis for their discussions of the relationship between religion, evolution, and society. Klacel's outspoken defense of his proposals caused him to lose favor with both the Church and the authorities, and he immigrated to America in 1869. His failing health and inability to communicate with the English-speaking populace, unfortunately, limited his influence in his new environs. In this paper we trace the roots of Klacel's philosophy and elucidate his incorporation of ideas from Hegel, Darwin, and others. An investigation of Klacel's recipe for a successful society reveals his belief in the universality of life and his optimistic hope for human achievement.}, } @article {pmid17384156, year = {2007}, author = {Hartl, DL and Fairbanks, DJ}, title = {Mud sticks: on the alleged falsification of Mendel's data.}, journal = {Genetics}, volume = {175}, number = {3}, pages = {975-979}, pmid = {17384156}, issn = {0016-6731}, mesh = {Genetics/*history ; History, 19th Century ; History, 20th Century ; Inheritance Patterns/*genetics ; Research Design/standards ; Scientific Misconduct/*history ; }, } @article {pmid17367004, year = {2006}, author = {Pettit, M}, title = {"The joy in believing": the Cardiff giant, commercial deceptions, and styles of observation in Gilded Age America.}, journal = {Isis; an international review devoted to the history of science and its cultural influences}, volume = {97}, number = {4}, pages = {659-677}, doi = {10.1086/509948}, pmid = {17367004}, issn = {0021-1753}, mesh = {*Culture ; *Deception ; *Fossils ; Gigantism/*history ; History, 20th Century ; Humans ; New York ; *Religion and Science ; Scientific Misconduct/*history ; }, abstract = {This essay presents a historical epistemology of the nineteenth-century controversy concerning a scientific hoax, the Cardiff giant. My focus is on the shifting meanings given to the giant, which were based on epistemologies derived from scientific authority, religious belief, and market relations. In 1869 a farmer in Cardiff, New York, claimed to have discovered the fossilized remains of a prehistoric, perhaps biblical, giant on his property. While some scientists stressed the need to cooperate with commercial showmen, enthusiasm for the giant incited the ire of others, who sought to debunk it and the culture that sustained it. Drawing on local newspaper reports, memoirs, nineteenth-century exposés, and publicity materials associated with the giant's display, I link the episode to the history of popular and scientific observation. The giant was a particularly troubling spectacle because as an object of inquiry it blurred the modern boundaries separating nature, society, and religion.}, } @article {pmid17324811, year = {2007}, author = {Moore, J}, title = {R. A. Fisher: a faith fit for eugenics.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {38}, number = {1}, pages = {110-135}, doi = {10.1016/j.shpsc.2006.12.007}, pmid = {17324811}, issn = {1369-8486}, mesh = {Australia ; *Biological Evolution ; England ; Eugenics/*history ; History, 19th Century ; History, 20th Century ; Humans ; Protestantism/*history ; *Religion and Science ; Selection, Genetic ; Statistics as Topic/*history ; }, abstract = {In discussions of 'religion-and-science', faith is usually emphasized more than works, scientists' beliefs more than their deeds. By reversing the priority, a lingering puzzle in the life of Ronald Aylmer Fisher (1890-1962), statistician, eugenicist and founder of the neo-Darwinian synthesis, can be solved. Scholars have struggled to find coherence in Fisher's simultaneous commitment to Darwinism, Anglican Christianity and eugenics. The problem is addressed by asking what practical mode of faith or faithful mode of practice lent unity to his life? Families, it is argued, with their myriad practical, emotional and intellectual challenges, rendered a mathematically-based eugenic Darwinian Christianity not just possible for Fisher, but vital.}, } @article {pmid17265025, year = {2007}, author = {Prioul-Gervais, S and Deniot, G and Receveur, EM and Frankewitz, A and Fourmann, M and Rameau, C and Pilet-Nayel, ML and Baranger, A}, title = {Candidate genes for quantitative resistance to Mycosphaerella pinodes in pea (Pisum sativum L.).}, journal = {TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik}, volume = {114}, number = {6}, pages = {971-984}, pmid = {17265025}, issn = {0040-5752}, mesh = {Amino Acid Motifs ; Amino Acid Sequence ; Ascomycota/*immunology ; Chromosome Mapping ; Chromosomes, Plant ; Cloning, Molecular ; Conserved Sequence ; Crosses, Genetic ; DNA, Plant ; *Genes, Plant ; Genetic Linkage ; Genetic Markers ; Homozygote ; Immunity, Innate/*genetics/immunology ; Molecular Sequence Data ; Nucleic Acid Amplification Techniques ; Peas/*genetics/growth & development/immunology/microbiology ; Plant Diseases/microbiology ; Polymerase Chain Reaction ; *Quantitative Trait Loci ; Sequence Analysis, DNA ; Sequence Homology, Amino Acid ; }, abstract = {Partial resistance to Mycosphaerella pinodes in pea is quantitatively inherited. Genomic regions involved in resistance (QTLs) have been previously identified in the pea genome, but the molecular basis of the resistance is still unknown. The objective of this study was to map resistance gene analogs (RGA) and defense-related (DR) genes in the JI296 x DP RIL population that has been used for mapping QTLs for resistance to M. pinodes, and identify co-localizations between candidate genes and QTLs. Using degenerate oligonucleotide primers designed on the conserved motifs P-loop and GLPL of cloned resistance genes, we isolated and cloned 16 NBS-LRR sequences, corresponding to five distinct classes of RGAs. Specific second-generation primers were designed for each class. RGAs from two classes were located on the linkage group (LG) VII. Another set of PCR-based markers was designed for four RGA sequences previously isolated in pea and 12 previously cloned DR gene sequences available in databases. Out of the 16 sequences studied, the two RGAs RGA-G3A and RGA2.97 were located on LG VII, PsPRP4A was located on LG II, Peachi21, PsMnSOD, DRR230-b and PsDof1 were mapped on LG III and peabetaglu and DRR49a were located on LG VI. Two co-localizations between candidate genes and QTLs for resistance to M. pinodes were observed on LG III, between the putative transcription factor PsDof1 and the QTL mpIII-1 and between the pea defensin DRR230-b gene and the QTL mpIII-4. Another co-localization was observed on LG VII between a cluster of RGAs and the QTL mpVII-1. The three co-localizations appear to be located in chromosomal regions containing other disease resistance or DR genes, suggesting an important role of these genomic regions in defense responses against pathogens in pea.}, } @article {pmid17204643, year = {2007}, author = {Armstead, I and Donnison, I and Aubry, S and Harper, J and Hörtensteiner, S and James, C and Mani, J and Moffet, M and Ougham, H and Roberts, L and Thomas, A and Weeden, N and Thomas, H and King, I}, title = {Cross-species identification of Mendel's I locus.}, journal = {Science (New York, N.Y.)}, volume = {315}, number = {5808}, pages = {73}, doi = {10.1126/science.1132912}, pmid = {17204643}, issn = {1095-9203}, support = {BBS/E/G/00003001/BB_/Biotechnology and Biological Sciences Research Council/United Kingdom ; }, mesh = {Amino Acid Sequence ; Arabidopsis/*genetics/physiology ; Arabidopsis Proteins/genetics ; Chlorophyll/analysis/*metabolism ; Chromosome Mapping ; Cotyledon/physiology ; Festuca/*genetics/physiology ; Gene Expression Regulation, Plant ; *Genes, Plant ; Molecular Sequence Data ; Peas/*genetics/physiology ; Phenotype ; Plant Leaves/physiology ; RNA Interference ; }, abstract = {A key gene involved in plant senescence, mutations of which partially disable chlorophyll catabolism and confer stay-green leaf and cotyledon phenotypes, has been identified in Pisum sativum, Arabidopsis thaliana, and Festuca pratensis by using classical and molecular genetics and comparative genomics. A stay-green locus in F. pratensis is syntenically equivalent to a similar stay-green locus on rice chromosome 9. Functional testing in Arabidopsis of a homolog of the rice candidate gene revealed (i) senescence-associated gene expression and (ii) a stay-green phenotype after RNA interference silencing. Genetic mapping in pea demonstrated cosegregation with the yellow/green cotyledon polymorphism (I/i) first reported by Gregor Mendel in 1866.}, } @article {pmid17184166, year = {2006}, author = {Hackett, S and Feldheim, K and Alvey, M}, title = {Genes and genius: the inheritance of Gregor Mendel.}, journal = {DNA and cell biology}, volume = {25}, number = {12}, pages = {655-658}, doi = {10.1089/dna.2006.25.655}, pmid = {17184166}, issn = {1044-5498}, mesh = {Czech Republic ; Genetics/*history ; History, 19th Century ; }, } @article {pmid17075656, year = {2006}, author = {Tan, SY and Brown, J}, title = {Gregor Mendel (1822-1884): man of God and science.}, journal = {Singapore medical journal}, volume = {47}, number = {11}, pages = {922-923}, pmid = {17075656}, issn = {0037-5675}, mesh = {Famous Persons ; Genetics/*history ; History, 19th Century ; Humans ; Philately ; }, } @article {pmid17059108, year = {2006}, author = {Richmond, ML}, title = {The 1909 Darwin celebration. Reexamining evolution in the light of Mendel, mutation, and meiosis.}, journal = {Isis; an international review devoted to the history of science and its cultural influences}, volume = {97}, number = {3}, pages = {447-484}, doi = {10.1086/508076}, pmid = {17059108}, issn = {0021-1753}, mesh = {Anniversaries and Special Events ; *Famous Persons ; Genetic Research/*history ; Genetics/*history ; History, 19th Century ; History, 20th Century ; Humans ; Hybridization, Genetic ; Inheritance Patterns ; Interprofessional Relations ; Natural History/*history ; Societies, Scientific/history ; United States ; }, abstract = {In June 1909, scientists and dignitaries from 167 different countries gathered in Cambridge to celebrate the hundredth anniversary of Charles Darwin's birth and the fiftieth anniversary of the publication of Origin of Species. The event was one of the most magnificent commemorations in the annals of science. Delegates gathered within the cloisters of Cambridge University not only to honor the "hero" of evolution but also to reassess the underpinnings of Darwinism at a critical juncture. With the mechanism of natural selection increasingly under attack, evolutionary theory was in disarray. Against this backdrop, biologists weighed the impact of several new developments--the rediscovery of Mendel's laws of heredity, de Vriesian mutation theory, and the linkage of sex-cell division (recently named "meiosis") to the mechanism of heredity. The 1909 Darwin celebration thus represents a significant watershed in the history of modem biology that allows historians to assess the status of evolution prior to the advent of the chromosome theory of genetics.}, } @article {pmid16970619, year = {2005}, author = {Orel, V}, title = {Contested memory: debates over the nature of Mendel's paradigm.}, journal = {Hereditas}, volume = {142}, number = {2005}, pages = {98-102}, doi = {10.1111/j.1601-5223.2005.01922.x}, pmid = {16970619}, issn = {1601-5223}, mesh = {Breeding/history ; Genetics/*history ; History, 19th Century ; Peas/*genetics ; }, } @article {pmid16791788, year = {2006}, author = {Pennazio, S}, title = {Did Mendel actually trick?.}, journal = {Rivista di biologia}, volume = {99}, number = {1}, pages = {20-23}, pmid = {16791788}, issn = {0035-6050}, mesh = {Czech Republic ; Genetics/*history/*standards ; History, 19th Century ; Scientific Misconduct/*history ; }, } @article {pmid16758805, year = {2006}, author = {Brajusković, G}, title = {[140 years of genetics].}, journal = {Vojnosanitetski pregled}, volume = {63}, number = {5}, pages = {509-512}, pmid = {16758805}, issn = {0042-8450}, mesh = {Genetics/*history ; History, 19th Century ; History, 20th Century ; History, 21st Century ; }, } @article {pmid16602332, year = {2005}, author = {Mallardi, V}, title = {[The origin of informed consent].}, journal = {Acta otorhinolaryngologica Italica : organo ufficiale della Societa italiana di otorinolaringologia e chirurgia cervico-facciale}, volume = {25}, number = {5}, pages = {312-327}, pmid = {16602332}, issn = {0392-100X}, mesh = {Christianity ; Defensive Medicine/history ; Egypt ; Ethics, Medical ; Greece ; Hippocratic Oath ; History, 18th Century ; History, 20th Century ; History, Ancient ; Holocaust ; Human Experimentation/history ; Human Rights/history ; Humans ; Informed Consent/*history/legislation & jurisprudence ; Italy ; Morals ; National Socialism ; Patient Rights/history ; Philosophy ; Physician-Patient Relations ; Religion and Medicine ; Rome ; Social Class ; United States ; War Crimes ; }, abstract = {The principle of informed consent, aimed at the lawfulness of health assistance, tends to reflect the concept of autonomy and of decisional autodetermination of the person requiring and requesting medical and/or surgical interventions. This legal formula, over the last few years, has gained not only considerable space but also importance in the doctrinal elaboration and approaches, as well as juridical interpretations, thereby influencing the everyday activities of the medical profession. Informed consent is still the object of continuous explorations, not only asfar as concerns the already confirmed theoretical profile but, instead, the ambiguous practical and consequential aspect. Analysing how the concept and role of consensus was born and developed with the more adequate and reasonable excursions to make it valid and obtain it, it is impossible not to take into consideration, on the one hand, the very ancient philosophical origins and, on the other, the fact that it was conditioned by religion with the moral aspects and the accelerated deontological evolution with pathways parallel to the needs and the progress offered by new forms of treatment and novel biotechnological applications. The principle of consent is a relatively new condition. In fact, already in the times of not only the Egyptian civilisation, but also the Greek and Roman, documents have been found which show how the doctor's intervention had, in some way, first to be approved by the patient. Plato (law IV) had already foreseen the problems, the procedures and the modes of information which are, in synthesis, at the root of the principles of the present formula of informed consent and correlated the practice of the information and consensus with the quality and social position of the patient. The only guarantee that the patient might have, derived from a fundamental principle of medicine of all times: "in disease, focus on two aims, to improve and not to cause damage". A figure can be recognised, in the Hippocratic physician, that cared about the patient's suffering, but never neglected looking after his own outcome, endeavouring to avoid becoming involved in lack of success and death of a patient. The concept of consensus is inexistent, albeit, there is an awareness of the presence of precautious and preventive information. In the behaviour of doctors, in ancient times, it is not difficult to recognize the true motives and the real reasons that, already in those days, give rise to the necessary "defensive medicine" particularly as far as concerns the social status of the patient. Already from the early origins, continuing the Hippocratic tradition, the relationship between doctor and patient was consolidated, based upon two very definite criteria, represented, on the one hand, by the professional duty of the physician to do what is bestfor the patient and, on the other, the duty of the patient to completely accept the physician's decisions and intervention. The Hippocratic physician respected a principle of professional responsibility which was more religious and of a moral type, but, from a legal point of view, very weak inasmuch as it depended upon regulations elaborated by human beings. The conviction and certainty that the physician acted, in the interest of his patient's well-being, has been passed down over the centuries endowing the physician with moral authority and a kind of legal impunity, conditions which corresponded, in an almost reflection-likefashion, with the duty of obedience and subjection, on the part of the patient. Christianity was grafted into this consolidated vision of the sacral character of medicine and medical practice, which did not substantially change the Hippocratic type of ethical behaviour. Non only the population but also the Christian physician was aware of the religious importance of his intense activity as a mission and compared to a special kind of priesthood in safe-guarding health, considered as a gift of God. Therefore, invested with this authority which derived from his professional role and from his very work, he felt it his duty to guide the patient, deciding and for him. The patient is an ignorant person who does not have the knowledge, the intellectual capacity or moral authority to oppose or disagree with the wishes and decisions of the physician who, instead, on account of his doctrine, knows exactly what is goodfor him. In this regard, if we were to speak of consensus concerning the physician's intervention, he would be considered useless in as much as obvious and understood when seeking help. The attitude of the patient towards the physician has always tended to one of strong faith and characterized by psychological subjection borne out by traditions thousands of years old. A patient who was sick, again, as an attitude of respect and gratitude, followed the treatment but never asked for any explanations regarding the therapeutic effects and the physician refrained from taking any initiative to inform the patient or his/her family. Each phenomenon, therefore, has a precise origin, a well-defined history and when its importance tends to significantly condition the activities concerning Man, a desire emerges to learn the origin and the history. As is well known, a trial commenced in Nuremberg, on December 19, 1946, of Nazi doctors and a code was defined in which the judges, all Americans, clearly emphasized a view of medical research and technology: science should never transform or consider human beings as an instrument to be employed for scientific purposes. In actual fact, documents exist providing evidence that a few decades before the drawing up of the Nuremberg Code, the need had been expressed, in Germany itself to somehow make medical interventions and actions legal by means of the use and practice of consensus. The moral and ethical principles in those documents, even if not available as bibliographic references in the English literature, certainly merit, from a historical viewpoint to be considered as conceptual elements and doctrinal and socio-cultural products, even if at that time, of little practical importance, which belong to the European culture and, in particular, and almost paradoxically, in the light of what happened, to the German culture. The United States of America is held to be the country of origin of informed consent, the initial aim of which was make sure that the correct dignity of the patient's independence be reserved at the time of decision making and choice of medical options. Reports on this topic, in fact, first appeared in the USA, at the beginning of the 18th Century, with problems focusing on and limited to only the simple rights of the patient in giving his/her approval of the health intervention later to be conceptually developed, along the lines of an itinerary with, at intervals, famous legal actions, until in the 20th Century, informed consent was reached, a criterion that, as is well known, foresees and includes not only the important and fundamental autonomy of the patient to decide, which stems ones personal rights, but also the essential objective element, which is, information. The expression informed consent has simply been transposed in Italian and roughly translated in an ambiguous fashion into "consenso informato" when, on the contrary, it should be referred to as "informazione per il consenso" "information for consensus" not only to respect the concept but, surely, for a more correct deciphering and a more precise interpretation related to the numerous concepts it presupposes and implies. Information and consent may be compared to the two sides of the same coin. These are the two important pillars that coincide and are joined giving weight to the medical responsibility, as far as concerns consent to the health intervention: on the one hand, having obtained consent,following correct and sincere information interpreted and deciphered as an important phase and an essential indicator of correct, scrupulous medico-professional procedure and, on the other, the consensus itself conceived as a duty aiming at the maximum respect of the rights to autodetermination, independence and autonomy of the patient, as a person. At the beginning of the Nineties, as we have seen, we were made aware of a series of legal actions regarding medical responsibility which was greatly conditioned by the Anglosaxon influence which initially induced many Italian magistrates and forensic physicians to adopt an extremely rigid attitude with no attempt to comply, in any way, with the culture and traditions of our country and our tradition which has always been inspired by good common sense, both medical and human. The American experience has been very rapidly adopted, by some, without a profound, complete and necessary historical and evolutional analysis aimed at those intertwined principles that have been motifs that have gradually led to the legal references in those emblematic cases referred to, the conclusions of which continue to attract a great deal of attention. In Italy, the legal and doctrinal evolution of informed consent, even if following a little more rapidly the traces, steps, problems and interpretations of the various aspects drawn up, characterized and applied in the United States, has not only occurred at a later time, but, despite reaching the same meaningful objectives, the same considerations, the same importance, and, unfortunately, the same inconveniences, has had quite different aims, approaches and articulations. In this respect, it is enough to focus attention on the different cultural traditions and religious routes, on the different doctrinal background, the particular historical origins and the individual legal aspects, all extremely different one from the other. (ABSTRACT TRUNCATED)}, } @article {pmid16597414, year = {2006}, author = {Nivet, C}, title = {[1848: Gregor Mendel, the monk who wanted to be a citizen].}, journal = {Medecine sciences : M/S}, volume = {22}, number = {4}, pages = {430-433}, doi = {10.1051/medsci/2006224430}, pmid = {16597414}, issn = {0767-0974}, mesh = {Austria ; Authorship ; Catholicism/history ; Dissent and Disputes/*history ; Genetics/*history ; History, 19th Century ; Human Rights/*history/legislation & jurisprudence ; Humans ; Politics ; }, abstract = {This article proposes a previously unpublished French translation of a petition, in German, addressed by six Augustinian friars to the Constitutional Parliament of Vienna in the revolutionary year 1848. The petition states that members of religious orders are deprived of civil rights and demands that they be given citizenship ; it also contains a bitter attack on the monastic institution. We suggest that Mendel was the author of this text, which he signed and actually hand-wrote.}, } @article {pmid16485398, year = {2006}, author = {Geddes, LA}, title = {Who was the first genetic engineer?.}, journal = {IEEE engineering in medicine and biology magazine : the quarterly magazine of the Engineering in Medicine & Biology Society}, volume = {25}, number = {1}, pages = {101}, doi = {10.1109/memb.2006.1578671}, pmid = {16485398}, issn = {0739-5175}, mesh = {Austria ; Biomedical Engineering/*history ; Breeding/*history ; Genetic Engineering/*history ; History, 19th Century ; }, } @article {pmid16473268, year = {2006}, author = {Plutynski, A}, title = {What was Fisher's fundamental theorem of natural selection and what was it for?.}, journal = {Studies in history and philosophy of biological and biomedical sciences}, volume = {37}, number = {1}, pages = {59-82}, doi = {10.1016/j.shpsc.2005.12.004}, pmid = {16473268}, issn = {1369-8486}, mesh = {Biometry/history ; England ; *Genetic Variation ; Genetics, Population/*history ; History, 20th Century ; Humans ; *Models, Genetic ; *Selection, Genetic ; }, abstract = {Fisher's 'fundamental theorem of natural selection' is notoriously abstract, and, no less notoriously, many take it to be false. In this paper, I explicate the theorem, examine the role that it played in Fisher's general project for biology, and analyze why it was so very fundamental for Fisher. I defend and Lessard (1997) in the view that the theorem is in fact a true theorem if, as Fisher claimed, 'the terms employed' are 'used strictly as defined' (1930, p. 38). Finally, I explain the role that projects such as Fisher's play in the progress of scientific inquiry.}, } @article {pmid16443600, year = {2006}, author = {Nogler, GA}, title = {The lesser-known Mendel: his experiments on Hieracium.}, journal = {Genetics}, volume = {172}, number = {1}, pages = {1-6}, doi = {10.1093/genetics/172.1.1}, pmid = {16443600}, issn = {0016-6731}, mesh = {Asteraceae/*genetics ; Crosses, Genetic ; Genes, Plant ; Genetic Research/*history ; History, 19th Century ; History, 20th Century ; Humans ; }, } @article {pmid16374916, year = {2005}, author = {Thorvaldsen, S}, title = {A tutorial on Markov models based on Mendel's classical experiments.}, journal = {Journal of bioinformatics and computational biology}, volume = {3}, number = {6}, pages = {1441-1460}, doi = {10.1142/s021972000500165x}, pmid = {16374916}, issn = {0219-7200}, mesh = {Animals ; *Biological Evolution ; Evolution, Molecular ; Genetic Variation/*genetics ; Humans ; *Markov Chains ; *Models, Genetic ; Models, Statistical ; Pigments, Biological/*genetics ; Plants/*genetics ; Sequence Analysis/*methods ; }, abstract = {Hidden Markov Models (HMM) can be extremely useful tools for the analysis of data from biological sequences, and provide a probabilistic model of protein families. Most reviews and general introductions follow the excellent tutorial by Rabiner, where the focus is outside biology. Mendel's famous experiments in plant hybridisation were published in 1866 and are often considered the icebreaking work of modern genetics. He had no prior knowledge of the dual nature of genes, but through a series of experiments he was able to anticipate the hidden concept and name it "Elemente". In this paper we present the background, theory and algorithms of HMM based on examples from Mendel's experiments, and introduce the toolbox "mendelHMM". This approach is considered to have some intuitive advantages in a biological and bioinformatical setting. Applications to analysing bio-sequences like nucleic acids and proteins are also discussed.}, } @article {pmid16180199, year = {2005}, author = {Liu, Y}, title = {Darwin and Mendel: who was the pioneer of genetics?.}, journal = {Rivista di biologia}, volume = {98}, number = {2}, pages = {305-322}, pmid = {16180199}, issn = {0035-6050}, mesh = {Animals ; Austria ; Biological Evolution ; Genetic Research/*history ; Genetics/*history ; History, 19th Century ; Humans ; *Hybridization, Genetic/genetics ; *Inheritance Patterns/genetics ; Plants ; Selection, Genetic ; United Kingdom ; }, abstract = {Although Mendel is now widely recognized as the founder of genetics, historical studies have shown that he did not in fact propose the modern concept of paired characters linked to genes, nor did he formulate the two "Mendelian laws" in the form now given. Furthermore, Mendel was accused of falsifying his data, and Mendelism has been met with scepticism because of its failure to provide scientific explanation for evolution, to furnish a basis for the process of genetic assimilation and to explain the inheritance of acquired characters, graft hybridization and many other facts. Darwin was the first to clearly describe almost all genetical phenomena of fundamental importance, and was the first to present a developmental theory of heredity--Pangenesis, which not only greatly influenced many subsequent theories of inheritance, particularly those of de Vries, Galton, Brooks and Weismann, but also tied all aspects of variation, heredity and development together, provided a mechanism for most of the observable facts, and is supported by increasing evidence. It has also been indicated that Darwin's influence on Mendel, primarily from The Origin, is evident. The word "gene" was derived from "pangen", itself a derivative of "Pangenesis" which Darwin had coined. It seems that Darwin should have been regarded as the pioneer, if not of transmissional genetics, of developmental genetics and molecular genetics.}, } @article {pmid16175170, year = {2005}, author = {Barahona, A and Ayala, FJ}, title = {The emergence and development of genetics in Mexico.}, journal = {Nature reviews. Genetics}, volume = {6}, number = {11}, pages = {860-866}, doi = {10.1038/nrg1705}, pmid = {16175170}, issn = {1471-0056}, mesh = {Animals ; Crops, Agricultural/genetics/history ; Genetics/education/*history/trends ; History, 20th Century ; Humans ; Mexico ; *Universities/history ; }, abstract = {Early in the twentieth century it was shown that Mendel's laws apply to plants and animals and that genes reside on chromosomes. In the 1950s the double-helix model of DNA inaugurated the molecular biology era, which culminated at the end of the century with the publication of the human genome sequence. Although the early response to discoveries in genetics was slow in Mexico, the Green Revolution and other agricultural applications of genetic knowledge contributed greatly to economic welfare, and by the end of the millennium Mexican genetics had reached world-class status at several universities and research institutions.}, } @article {pmid16133188, year = {2005}, author = {Harper, PS}, title = {William Bateson, human genetics and medicine.}, journal = {Human genetics}, volume = {118}, number = {1}, pages = {141-151}, pmid = {16133188}, issn = {0340-6717}, mesh = {Genetic Diseases, Inborn/genetics ; Genetics, Medical/*history ; History, 19th Century ; History, 20th Century ; Metabolism, Inborn Errors/genetics ; Societies ; United Kingdom ; }, abstract = {The importance of human genetics in the work of William Bateson (1861-1926) and in his promotion of Mendelism in the decade following the 1900 rediscovery of Mendel's work is described. Bateson had close contacts with clinicians interested in inherited disorders, notably Archibald Garrod, to whom he suggested the recessive inheritance of alkaptonuria, and the ophthalmologist Edward Nettleship, and he lectured extensively to medical groups. Bateson's views on human inheritance were far sighted and cautious. Not only should he be regarded as one of the founders of human genetics, but human genetics itself should be seen as a key element of the foundations of mendelian inheritance, not simply a later development from knowledge gained by study of other species.}, } @article {pmid16130450, year = {2005}, author = {Vögeli, P}, title = {Gerald Friedrich Stranzinger.}, journal = {Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie}, volume = {122 Suppl 1}, number = {}, pages = {2-4}, doi = {10.1111/j.1439-0388.2005.00487.x}, pmid = {16130450}, issn = {0931-2668}, mesh = {Breeding/*history ; Chromosome Mapping/history ; Cytogenetics/history ; Genetics/*history ; History, 20th Century ; History, 21st Century ; }, } @article {pmid15975498, year = {2005}, author = {Lefor, AT}, title = {Scientific misconduct and unethical human experimentation: historic parallels and moral implications.}, journal = {Nutrition (Burbank, Los Angeles County, Calif.)}, volume = {21}, number = {7-8}, pages = {878-882}, doi = {10.1016/j.nut.2004.10.011}, pmid = {15975498}, issn = {0899-9007}, mesh = {Codes of Ethics/history ; Ethics, Medical/*history ; Germany ; Helsinki Declaration/history ; History, 19th Century ; History, 20th Century ; Human Experimentation/ethics/*history/standards ; Humans ; Informed Consent/ethics/history ; National Socialism/history ; Research Subjects ; Scientific Misconduct/ethics/*history ; United States ; }, abstract = {Although a great deal of human experimentation has been performed to elucidate information otherwise not obtainable, there are many recorded instances of unethical human experimentation. There is also a history of crimes that were committed and disguised as human experiments, best exemplified by the activities of some physicians in Nazi Germany from 1933 until 1945. As a direct result of these activities, a war-crimes trial after World War II resulted in the creation of the Nuremberg Code, to guide future human experimentation. Despite this, unethical experiments were conducted at major academic institutions in the United States in the years after World War II by otherwise normal physicians who did not feel that the Nuremberg Code applied to them personally. There are several possible explanations for such activities, but the desire for personal advancement is prominent among these. Episodes of scientific misconduct such as falsification of experimental data or of personal qualifications seem to be more commonly reported recently and have also been described in the popular press. This activity may also be motivated by desire for personal advancement, giving it a parallel to the conduct of unethical human experimentation. Education may be the best way to prevent these activities that may have similar motivating factors.}, } @article {pmid15934643, year = {2005}, author = {Minkel, JR}, title = {RNA to the rescue: novel inheritance patterns violate Mendel's Laws.}, journal = {Scientific American}, volume = {292}, number = {6}, pages = {20, 22}, doi = {10.1038/scientificamerican0605-20}, pmid = {15934643}, issn = {0036-8733}, mesh = {Animals ; Arabidopsis/genetics ; Humans ; *Inheritance Patterns ; Mutation ; RNA/*genetics ; RNA, Plant/genetics ; }, } @article {pmid15888212, year = {2005}, author = {Wilcox, LS}, title = {Peas and primroses.}, journal = {Preventing chronic disease}, volume = {2}, number = {2}, pages = {A01}, pmid = {15888212}, issn = {1545-1151}, mesh = {*Genetics, Medical ; History, 19th Century ; Humans ; *Public Health ; }, } @article {pmid15754596, year = {2004}, author = {Liu, Y}, title = {Lysenko's contributions to biology and his tragedies.}, journal = {Rivista di biologia}, volume = {97}, number = {3}, pages = {483-498}, pmid = {15754596}, issn = {0035-6050}, mesh = {Agriculture/history ; Animals ; Biological Evolution ; Biology/*history ; Botany/history ; Genetics/history ; History, 19th Century ; History, 20th Century ; Models, Biological ; Politics ; Russia ; }, abstract = {Trofim Denisovich Lysenko's life and work have been much analyzed and discussed in the world's literature. It is well known that Lysenko is notorious and has been regarded as a charlatan. Less well known is that he once made greater contributions to Biology and has been misunderstood in some aspects. In this paper, Lysenko s contributions to plant physiology, genetics, agro-biology and evolutionary biology are briefly reviewed. His tragedies and mistakes, such as mixing science and politics, denying the existence of genes, failing to build up suitable scientific collectives for the metabolism-biochemical studies of heredity, as well as his theoretical one-sidedness, are also discussed, thus reconsidering the case of Lysenko from a comprehensive and objective viewpoint.}, } @article {pmid15640089, year = {2004}, author = {Liu, YS and Li, BY and Li, GR and Zhou, XM}, title = {[Graft hybridization and the specificity of heredity in fruit trees].}, journal = {Yi chuan = Hereditas}, volume = {26}, number = {5}, pages = {705-710}, pmid = {15640089}, issn = {0253-9772}, mesh = {Austria ; *Breeding ; China ; *Crosses, Genetic ; England ; Fruit/genetics/growth & development ; Genetics/history ; Heredity ; History, 16th Century ; History, 18th Century ; History, 19th Century ; *Hybridization, Genetic ; Plant Development ; Plants/*genetics ; }, abstract = {Emphatically discusses the relationship between graft hybridization and the specificity of heredity in fruit trees on the basis of introducing the recent achievements in plant graft hybridization. We propose that genetic materials in rootstock being translocated and integrated into the genome of the germ cells and embryonic cells in scion are the main reasons why the majority of the hybrid seedlings have wild properties and the heredity of fruit trees violate Mendel's laws of heredity. The potential of graft hybridization in fruit breeding are also discussed.}, } @article {pmid15525505, year = {2004}, author = {Nivet, C}, title = {[An enigmatic disease in Gregor Mendel's life].}, journal = {Medecine sciences : M/S}, volume = {20}, number = {11}, pages = {1050-1053}, doi = {10.1051/medsci/200420111050}, pmid = {15525505}, issn = {0767-0974}, mesh = {*Famous Persons ; Genetics/*history ; Health Status ; History, 20th Century ; Humans ; *Personality ; Plants/genetics ; }, abstract = {The great value of the experimental and theoretical work of Gregor Mendel has been recognized more than thirty five years after its publication; in this article, we suggest that his personality has still to be rediscovered.}, } @article {pmid15520813, year = {2004}, author = {Liu, Y and West, SC}, title = {Happy Hollidays: 40th anniversary of the Holliday junction.}, journal = {Nature reviews. Molecular cell biology}, volume = {5}, number = {11}, pages = {937-944}, doi = {10.1038/nrm1502}, pmid = {15520813}, issn = {1471-0072}, mesh = {Animals ; Biochemistry/*history ; DNA/chemistry ; Genetics ; History, 20th Century ; Holliday Junction Resolvases/*chemistry ; Humans ; Integrases/chemistry ; Meiosis ; Models, Molecular ; Recombination, Genetic ; }, abstract = {In 1964, the geneticist Robin Holliday proposed a mechanism of DNA-strand exchange that attempted to explain gene-conversion events that occur during meiosis in fungi. His proposal marked the birthday of the now famous cross-stranded DNA structure, or Holliday junction. To understand the importance of the Holliday model we must look back in the history of science beyond the last 40 years, to a time when theories of heredity were being proposed by Gregor Johann Mendel.}, } @article {pmid15339331, year = {2004}, author = {Porteous, JW}, title = {A rational treatment of Mendelian genetics.}, journal = {Theoretical biology & medical modelling}, volume = {1}, number = {}, pages = {6}, pmid = {15339331}, issn = {1742-4682}, mesh = {*Genes, Dominant ; *Genes, Recessive ; Homeostasis/*genetics ; Humans ; Metabolism/*genetics ; *Models, Genetic ; *Quantitative Trait, Heritable ; }, abstract = {BACKGROUND: The key to a rational treatment of elementary Mendelian genetics, specifically to an understanding of the origin of dominant and recessive traits, lies in the facts that: (1) alleles of genes encode polypeptides; (2) most polypeptides are catalysts, i.e. enzymes or translocators; (3) the molecular components of all traits in all cells are the products of systems of enzymes, i.e. of fluxing metabolic pathways; (4) any flux to the molecular components of a trait responds non-linearly (non-additively) to graded mutations in the activity of any one of the enzymes at a catalytic locus in a metabolic system; (5) as the flux responds to graded changes in the activity of an enzyme, the concentrations of the molecular components of a trait also change.

CONCLUSIONS: It is then possible to account rationally, and without misrepresenting Mendel, for: the origin of dominant and recessive traits; the occurrence of Mendel's 3(dominant):1(recessive) trait ratio; deviations from this ratio; the absence of dominant and recessive traits in some circumstances, the occurrence of a blending of traits in others; the frequent occurrence of pleiotropy and epistasis.}, } @article {pmid15312231, year = {2004}, author = {Porteous, JW}, title = {We still fail to account for Mendel's observations.}, journal = {Theoretical biology & medical modelling}, volume = {1}, number = {}, pages = {4}, doi = {10.1186/1742-4682-1-4}, pmid = {15312231}, issn = {1742-4682}, mesh = {History, 19th Century ; *Models, Genetic ; Observation ; Research/*history ; }, abstract = {BACKGROUND: The present article corrects common textbook accounts of Mendel's experiments by re-establishing what he wrote and how he accounted for his observations. It notes the long-established tests for the validity of any explanations that purport to explain observations obtained by experiment. Application of these tests to Mendel's paper shows that the arguments he used to explain his observations were internally consistent but were, on one crucial issue, implausible. The same tests are applied to the currently accepted explanation for Mendel's observations.

CONCLUSIONS: The currently favoured explanation for Mendel's observations is untenable. It misrepresents Mendel, fails to distinguish between the parameters and the variables of any system of interacting components, its arguments are inconsistent, it repeats the implausibility in Mendel's paper, fails to give a rational explanation for his observed 3:1 trait ratio and cannot explain why this ratio is not always observed in experimental practice. A rational explanation for Mendel's observations is initiated. Readers are challenged to complete the process before a further article appears.}, } @article {pmid15293514, year = {2003}, author = {Bungener, P and Buscaglia, M}, title = {Cytology and mendelism: early connection between Michael F. Guyer's contribution.}, journal = {History and philosophy of the life sciences}, volume = {25}, number = {1}, pages = {27-50}, doi = {10.1080/03919710312331272935}, pmid = {15293514}, issn = {0391-9714}, mesh = {Cell Biology/*history ; Chromosome Segregation/genetics ; Genetics/*history ; History, 19th Century ; History, 20th Century ; Humans ; }, abstract = {This paper examines the contribution of the PhD dissertation of the American cytologist Michael F. Guyer (1874-1959) to the early establishment (in 1902-1903) of the parallel relationship between cytological chromosome behaviour in meiosis and Mendel's laws. Guyer's suggestions were among the first, which attempted to relate the variation observed in the offspring in hybridisation studies by a coherent cytological chromosome mechanism to meiosis before the rediscovery of Mendel's principles. This suggested for the first time that the chromosome mechanism involved a conjugation of maternal and paternal chromosomes during the synapsis followed by a segregation of parental chromosomes in the final germ cells and a random union of the final germ cells in the fertilization. It shows that this early suggestion was similar to William Austin Cannon's later chromosome proposal attempting to explain Mendel's principles and had some influence on Walter Sutton's cytological suggestion explaining correctly the behaviour of Mendel's particle by 1903.}, } @article {pmid15082535, year = {2004}, author = {Novitski, CE}, title = {Revision of Fisher's analysis of Mendel's garden pea experiments.}, journal = {Genetics}, volume = {166}, number = {3}, pages = {1139-1140}, doi = {10.1534/genetics.166.3.1139}, pmid = {15082535}, issn = {0016-6731}, mesh = {Chi-Square Distribution ; Genes, Dominant ; Genes, Plant ; Genes, Recessive ; Genetics/*history ; Heterozygote ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Peas/*genetics ; }, } @article {pmid15082534, year = {2004}, author = {Myers, JR}, title = {An alternative possibility for seed coat color determinaton in Mendel's experiment.}, journal = {Genetics}, volume = {166}, number = {3}, pages = {1137}, doi = {10.1534/genetics.166.3.1137}, pmid = {15082534}, issn = {0016-6731}, mesh = {Anthocyanins/genetics ; Chi-Square Distribution ; Crosses, Genetic ; Genetic Variation ; Genetics/*history ; Heterozygote ; History, 19th Century ; History, 21st Century ; Homozygote ; Hybridization, Genetic ; Peas/genetics ; Pigmentation ; Pigments, Biological/*genetics ; Seeds/*genetics ; }, } @article {pmid15082533, year = {2004}, author = {Novitski, E}, title = {On Fisher's criticism of Mendel's results with the garden pea.}, journal = {Genetics}, volume = {166}, number = {3}, pages = {1133-1136}, pmid = {15082533}, issn = {0016-6731}, mesh = {Crosses, Genetic ; Gene Frequency ; Genes, Dominant ; Genes, Plant ; Genetics/*history ; Heterozygote ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Homozygote ; Peas/*genetics ; Seeds/genetics ; }, } @article {pmid14998061, year = {2004}, author = {Hern, LM and Bidichandani, SI}, title = {What Mendel did not discover: exceptions in Mendelian genetics and their role in inherited human disease.}, journal = {The Journal of the Oklahoma State Medical Association}, volume = {97}, number = {1}, pages = {12-17}, pmid = {14998061}, issn = {0030-1876}, mesh = {Female ; Genetic Diseases, Inborn/*genetics ; Genomic Imprinting ; Humans ; Inheritance Patterns/*genetics ; Male ; *Molecular Biology ; Sex Factors ; }, abstract = {It has been one hundred and thirty-eight years after the initial publication of Mendel's laws of inheritance. Following a couple of decades of unprecedented progress in deciphering the molecular basis of human genetic disease, we have the luxury of hindsight to revisit Mendel's original discoveries in order to recognize variations in the themes that have otherwise endured the test of time. In this article we focus on diseases inherited in a Mendelian (or near Mendelian) fashion and describe deviations from the laws of Mendelian inheritance. We discuss relevant examples of inherited human disease and the underlying molecular mechanisms for the observed variations in Mendelian laws of inheritance.}, } @article {pmid14602707, year = {2003}, author = {Dunn, PM}, title = {Gregor Mendel, OSA (1822-1884), founder of scientific genetics.}, journal = {Archives of disease in childhood. Fetal and neonatal edition}, volume = {88}, number = {6}, pages = {F537-9}, doi = {10.1136/fn.88.6.f537}, pmid = {14602707}, issn = {1359-2998}, mesh = {Austria ; Chimera ; Genetics/*history ; History, 19th Century ; Hybridization, Genetic ; Peas/genetics/history ; }, abstract = {Gregor Mendel, an Augustinian monk and part-time school teacher, undertook a series of brilliant hybridisation experiments with garden peas between 1857 and 1864 in the monastery gardens and, using statistical methods for the first time in biology, established the laws of heredity, thereby establishing the discipline of genetics.}, } @article {pmid14577424, year = {2003}, author = {Resnik, DB}, title = {From Baltimore to Bell Labs: reflections on two decades of debate about scientific misconduct.}, journal = {Accountability in research}, volume = {10}, number = {2}, pages = {123-135}, doi = {10.1080/08989620300508}, pmid = {14577424}, issn = {0898-9621}, mesh = {Biomedical Research/ethics/history/legislation & jurisprudence ; Ethics, Research ; Federal Government ; Fraud/history/legislation & jurisprudence ; Government Regulation ; History, 20th Century ; Humans ; Plagiarism ; Science/ethics/history ; Scientific Misconduct/*classification/history/legislation & jurisprudence ; Social Control, Formal ; Terminology as Topic ; United States ; United States Public Health Service ; }, abstract = {This essay proposes a new definition of scientific "misconduct," which is broader than the definition recently adopted by the U.S. government. According to the proposed definition, misconduct is a serious and intentional violation of accepted scientific practices, commonsense ethical norms, or research regulations in proposing, designing, conducting, reviewing, or reporting research. Punishable misconduct includes fabrication of data or experiments, falsification of data, plagiarism, or interference with a misconduct investigation. Misconduct does not include honest errors, differences of opinion, or ethically questionable research practices.}, } @article {pmid14561415, year = {2003}, author = {Williams, N}, title = {Speaking volumes.}, journal = {Current biology : CB}, volume = {13}, number = {20}, pages = {R789-90}, doi = {10.1016/j.cub.2003.09.044}, pmid = {14561415}, issn = {0960-9822}, mesh = {*Biological Evolution ; *Genetics/history ; History, 19th Century ; }, abstract = {Many have pondered the potential impact of Mendel's work if Darwin had come across it in his lifetime. Darwin found difficulty with a blending inheritance and natural selection but a new letter suggests he was grappling with a more modern view. Nigel Williams reports.}, } @article {pmid14521846, year = {2003}, author = {Winchester, G}, title = {50 years before the double helix.}, journal = {Current biology : CB}, volume = {13}, number = {19}, pages = {R747-9}, doi = {10.1016/j.cub.2003.09.009}, pmid = {14521846}, issn = {0960-9822}, mesh = {Cell Biology/*history ; Chromosome Segregation/*genetics ; Genetics/*history ; History, 20th Century ; Inheritance Patterns/*genetics ; Meiosis/*genetics ; Sex Chromosomes/genetics ; }, } @article {pmid12807764, year = {2003}, author = {Lewis, EB}, title = {C. B. Bridges' repeat hypothesis and the nature of the gene.}, journal = {Genetics}, volume = {164}, number = {2}, pages = {427-431}, pmid = {12807764}, issn = {0016-6731}, mesh = {Alleles ; Animals ; Crosses, Genetic ; Drosophila melanogaster/*genetics ; Genetics/*history ; History, 20th Century ; }, } @article {pmid12798810, year = {2003}, author = {Allen, GE}, title = {Mendel and modern genetics: the legacy for today.}, journal = {Endeavour}, volume = {27}, number = {2}, pages = {63-68}, doi = {10.1016/s0160-9327(03)00065-6}, pmid = {12798810}, issn = {0160-9327}, mesh = {Agriculture/history ; Austria ; Genetic Research/*history ; Genetics/history ; History, 19th Century ; History, 20th Century ; *Hybridization, Genetic ; Peas/genetics ; Plants/genetics ; }, abstract = {The legacy of Mendel's pioneering studies of hybridization in the pea continues to influence the way we understand modern genetics. But what sort of picture did Mendel himself have of his work and its ultimate uses, and how does that picture compare with the collection of ideas and methodologies that was put forward in his name and later became known as 'Mendelism'? With genetics standing at the center of our present biomedical and biotechnological research, an examination of the history of our concepts in the field can help us better understand what we should and should not expect from current genetic claims. For that enterprise there is no better starting place than Mendel himself.}, } @article {pmid12798809, year = {2003}, author = {Harvey, J}, title = {Fertility or sterility? Darwin, Naudin and the problem of experimental hybridity.}, journal = {Endeavour}, volume = {27}, number = {2}, pages = {57-62}, doi = {10.1016/s0160-9327(03)00066-8}, pmid = {12798809}, issn = {0160-9327}, mesh = {*Crosses, Genetic ; Fertility ; France ; Genetics/*history ; History, 19th Century ; History, 20th Century ; *Hybridization, Genetic ; Infertility ; Plants/*genetics ; }, abstract = {Darwin came to realize that he could never devise an experiment that would demonstrate the development of new species by crossing hybrids. Instead, he turned to the problem of sterility within a species. The difference between Darwin's experimental and theoretical approach and that of French scientists working in the Muséum d'Histoire Naturelle in Paris can be shown most vividly by tracking Darwin's experiments in botany and his interest in those of Charles Naudin on hybrid plants. In his discussion of Mendel, Robert Olby has provided an interesting analysis of Naudin's hereditary concepts. I have approached some of the same work here with an emphasis on the question of sterility raised by Darwin, not simply between hybrids but within members of the same species and the light that he thought this could throw on both heredity and the origin of species.}, } @article {pmid12547676, year = {2002}, author = {Griesemer, J}, title = {What is "epi" about epigenetics?.}, journal = {Annals of the New York Academy of Sciences}, volume = {981}, number = {}, pages = {97-110}, doi = {10.1111/j.1749-6632.2002.tb04914.x}, pmid = {12547676}, issn = {0077-8923}, mesh = {Animals ; Evolution, Molecular ; *Gene Expression Regulation ; *Genetics ; Heredity ; Humans ; Models, Genetic ; Mutation ; }, abstract = {What counts as epigenetic depends on what counts as genetic. It is argued that Weismannism, the doctrine of genetic continuity and somatic discontinuity, is the basis for an overly inclusive concept of epigenetics as every inherited resource "beyond the genes." An alternative theoretical perspective, the "reproducer" concept, is introduced to facilitate analysis of multiple inheritance systems without labeling all nongenetic inheritance "epigenetic."}, } @article {pmid12532036, year = {2002}, author = {Bateson, P}, title = {William Bateson: a biologist ahead of his time.}, journal = {Journal of genetics}, volume = {81}, number = {2}, pages = {49-58}, pmid = {12532036}, issn = {0022-1333}, mesh = {Biological Evolution ; Chromosomes ; Epistasis, Genetic ; Genetic Variation ; Genetics/*history ; History, 19th Century ; History, 20th Century ; Kallmann Syndrome ; United Kingdom ; United States ; }, abstract = {William Bateson coined the term genetics and, more than anybody else, championed the principles of heredity discovered by Gregor Mendel. Nevertheless, his reputation is soured by the positions he took about the discontinuities in inheritance that might precede formation of a new species and by his reluctance to accept, in its full-blooded form, the view of chromosomes as the controllers of individual development. Growing evidence suggests that both of these positions have been vindicated. New species are now thought to arise as the result of genetic interactions, chromosomal rearrangements, or both, that render hybrids less viable or sterile. Chromosomes are the sites of genes but genes move between chromosomes much more readily than had been previously believed and chromosomes are not causal in individual development. Development, like speciation, requires an understanding of the interactions between genes and the interplay between the individual and its environment.}, } @article {pmid12509755, year = {2003}, author = {Dietrich, MR}, title = {Richard Goldschmidt: hopeful monsters and other 'heresies'.}, journal = {Nature reviews. Genetics}, volume = {4}, number = {1}, pages = {68-74}, doi = {10.1038/nrg979}, pmid = {12509755}, issn = {1471-0056}, mesh = {Biological Evolution ; Disorders of Sex Development/*genetics/history ; Genetic Variation ; Genetics/*history ; History, 19th Century ; History, 20th Century ; *Sex Determination Processes ; }, abstract = {Richard Goldschmidt is remembered today as one of the most controversial biologists of the twentieth century. Although his work on sex determination and physiological genetics earned him accolades from his peers, his rejection of the classical gene and his unpopular theories about evolution significantly damaged his scientific reputation. This article reviews Goldschmidt's life and work, with an emphasis on his controversial views.}, } @article {pmid12387914, year = {2002}, author = {Jacquez, JA and Jacquez, GM}, title = {Fisher's randomization test and Darwin's data -- a footnote to the history of statistics.}, journal = {Mathematical biosciences}, volume = {180}, number = {}, pages = {23-28}, doi = {10.1016/s0025-5564(02)00123-2}, pmid = {12387914}, issn = {0025-5564}, mesh = {*Data Interpretation, Statistical ; History, 19th Century ; Random Allocation ; Statistics as Topic/*history ; Zea mays/*genetics ; }, abstract = {In the presentation of his randomization test for paired data, Fisher used Darwin's data on the relative growth rates of cross- and self-fertilized corn to motivate the development. On reading Darwin's description of his experiment, it appears clear that the experiment did not use true paired comparisons. Although the statistical foundation of Fisher's randomization test is sound, it is of historical interest that it does not suit the design of the motivating experiment.}, } @article {pmid12205218, year = {2002}, author = {Kessel, R}, title = {Mendel-forgotten or ignored?.}, journal = {Journal of the Royal Society of Medicine}, volume = {95}, number = {9}, pages = {474}, pmid = {12205218}, issn = {0141-0768}, mesh = {Attitude of Health Personnel ; *Bibliometrics ; Genetics/*history ; History, 18th Century ; History, 20th Century ; Humans ; }, } @article {pmid12126349, year = {2002}, author = {Pai Dhungat, JV}, title = {Postal stamps released on John Gregor Mendel (1822-1884).}, journal = {The Journal of the Association of Physicians of India}, volume = {50}, number = {}, pages = {929}, pmid = {12126349}, issn = {0004-5772}, mesh = {Austria ; Czechoslovakia ; Genetics/history ; Germany, West ; History, 19th Century ; *Philately ; }, } @article {pmid12068894, year = {2002}, author = {Thurtle, P}, title = {Harnessing heredity in Gilded Age America: middle class mores and industrial breeding in a cultural context.}, journal = {Journal of the history of biology}, volume = {35}, number = {1}, pages = {43-78}, pmid = {12068894}, issn = {0022-5010}, mesh = {Animals ; Breeding/*history ; Eugenics/*history ; Genetics/*economics/*history ; History, 19th Century ; *Horses ; Industry/*history ; United States ; }, abstract = {By investigating the practices and beliefs of Gilded Age trotting horse breeders, this article demonstrates the relationship between industrial economic development and the growth of genetic reasoning in the United States. As most historians of biology already know, E. H. Harriman, Leland Stanford, and John D. Rockefeller not only transformed American business practice, they donated heavily to institutions that promoted eugenic research programs. What is not widely known, however, is that these same industrialists were accomplished trotting horse breeders with well-developed theories of inheritance. The article that follows uses these theories to place the rise of eugenic and genetic research into the context of the rapid development of industry in post Civil War America. Specifically, the study identifies how functional utility as defined through the narrow concerns of industrial practices were privileged over form and pedigree in American horse breeding. Even more importantly, this article suggests that the continuity established between the practices of the industrial philanthropists and the scientific research institutions that they established occurred at two levels: through the values privileged by the development of the dynamics of a mass society and through the tools used to process the large amounts of information necessary to understand breeding patterns in slow breeding organisms.}, } @article {pmid12062064, year = {2002}, author = {Williams, N}, title = {Abbey ambitions to celebrate home of genetics.}, journal = {Current biology : CB}, volume = {12}, number = {11}, pages = {R373-5}, doi = {10.1016/s0960-9822(02)00874-6}, pmid = {12062064}, issn = {0960-9822}, mesh = {Czech Republic ; Genetics/*history ; History, 19th Century ; }, abstract = {A century and a half after the ground-breaking work by Gregor Mendel in establishing the foundation of genetics, efforts are under way to develop a fitting commemoration of his work at his abbey home in Brno. Nigel Williams reports.}, } @article {pmid12037544, year = {2002}, author = {Kemp, M}, title = {Science in culture: peas without pictures--Gregor Mendel and the mathematical birth of modern genetics.}, journal = {Nature}, volume = {417}, number = {6888}, pages = {490}, doi = {10.1038/417490a}, pmid = {12037544}, issn = {0028-0836}, mesh = {Austria ; Biological Evolution ; Books, Illustrated/history ; Culture ; Genetics/*history ; History, 19th Century ; Mathematics/*history ; Peas/genetics ; Science/history ; }, } @article {pmid11955583, year = {2002}, author = {Bynum, B}, title = {Discarded diagnoses.}, journal = {Lancet (London, England)}, volume = {359}, number = {9313}, pages = {1256}, doi = {10.1016/s0140-6736(02)08200-4}, pmid = {11955583}, issn = {0140-6736}, mesh = {Animals ; Breeding/*history ; Female ; Genetics/*history ; History, 19th Century ; Humans ; Male ; }, } @article {pmid11900254, year = {2001}, author = {Balmain, A}, title = {Cancer genetics: from Boveri and Mendel to microarrays.}, journal = {Nature reviews. Cancer}, volume = {1}, number = {1}, pages = {77-82}, doi = {10.1038/35094086}, pmid = {11900254}, issn = {1474-175X}, mesh = {Animals ; Chromosome Aberrations ; Genes, Tumor Suppressor ; Genetic Predisposition to Disease ; Humans ; Neoplasms/*genetics ; *Oligonucleotide Array Sequence Analysis ; Proto-Oncogenes ; Telomere ; }, abstract = {The human genome has now been sequenced, a century after the re-discovery of Mendel's Laws, and the publication of Theodor Boveri's chromosomal theory of heredity. Tracing the historical landmarks of cancer genetics from these early days to the present time not only gives us an appreciation of how far we have come, but also emphasizes the challenges that we face if we are to unravel the genetic basis of hereditary and sporadic cancers in the next century.}, } @article {pmid11861545, year = {2002}, author = {Page, RE and Gadau, J and Beye, M}, title = {The emergence of hymenopteran genetics.}, journal = {Genetics}, volume = {160}, number = {2}, pages = {375-379}, pmid = {11861545}, issn = {0016-6731}, mesh = {Animals ; Chromosome Mapping ; Genetics/history ; Genome ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Hymenoptera/*genetics ; *Sex Determination Processes ; }, } @article {pmid11827705, year = {2002}, author = {Vijg, J}, title = {On key lesions and all that: a tribute to Paul Lohman.}, journal = {Mutation research}, volume = {499}, number = {2}, pages = {121-134}, doi = {10.1016/s0027-5107(01)00302-5}, pmid = {11827705}, issn = {0027-5107}, mesh = {Genetics/*history ; History, 20th Century ; Netherlands ; Toxicology/*history ; }, abstract = {This paper is a tribute to Paul Lohman at the occasion of his retirement from the position of Professor in the Medical Faculty at the Leiden University in The Netherlands and as Director of its Department of Radiation Genetics and Chemical Mutagenesis. Paul's contributions to the science of genetic toxicology are discussed in the context of more recent insights as to how mammalian cells process DNA damage, and how this may lead to cancer and, possibly, aging. Starting with his work on the characterization of UV-induced DNA repair in cultured cells from xeroderma pigmentosum patients and the development of methodology for monitoring the removal of UV-induced lesions in human cells, the concept of the key lesion is introduced. Among the myriad of DNA lesions that can be induced in DNA as a consequence of exposure to a range of natural or synthetic mutagens, key lesions are the ones responsible for subsequent adverse effects, for example, because they give rise to mutation. The development of methods using immunofluorescence microscopy to detect and identify such key lesions and quantitate them at the single cell level, is one of the highlights of Paul's career. Based on the perceived need to evaluate mutational end points in vivo in relation to specific lesions identified by his immunofluorescence methods, Paul subsequently made crucial contributions to the development of the first transgenic mouse model to measure mutations in chromosomally integrated reporter genes. In parallel to his experimental work, Paul greatly contributed to genetic toxicology at the theoretical level by his work on the development and evaluation of methods for assessment or prediction of risks of exposure to environmental mutagens. Finally, Paul has served the discipline of genetic toxicology in a more administrative role in various ways, both locally as one of the founders of the Medical Genetics Center South-West Netherlands and internationally by playing a prominent role in organizations such as ICPEMC. Here, his numerous contributions to the journal Mutation Research, both as author on many papers and as Executive Managing Editor should not go unmentioned.}, } @article {pmid11808437, year = {2001}, author = {Zuckerberg, C}, title = {[Gregor Johann Mendel (1822-1884)].}, journal = {Medicina}, volume = {61}, number = {6}, pages = {903-904}, pmid = {11808437}, issn = {0025-7680}, mesh = {Austria ; Botany/*history ; Genetics/*history ; History, 19th Century ; Humans ; *Philately ; Vatican City ; }, } @article {pmid11805039, year = {2002}, author = {Crow, EW and Crow, JF}, title = {100 years ago: Walter Sutton and the chromosome theory of heredity.}, journal = {Genetics}, volume = {160}, number = {1}, pages = {1-4}, pmid = {11805039}, issn = {0016-6731}, mesh = {*Chromosomes ; Genetics/*history ; History, 19th Century ; History, 20th Century ; History, Modern 1601- ; Models, Genetic ; United States ; }, } @article {pmid11779782, year = {2001}, author = {Gillham, NW}, title = {Evolution by jumps: Francis Galton and William Bateson and the mechanism of evolutionary change.}, journal = {Genetics}, volume = {159}, number = {4}, pages = {1383-1392}, pmid = {11779782}, issn = {0016-6731}, mesh = {Animals ; *Biological Evolution ; Genetics/*history ; History, 19th Century ; Humans ; Models, Genetic ; Plants/*genetics ; }, } @article {pmid11718380, year = {2001}, author = {Pennazio, S and Roggero, P and Conti, M}, title = {A history of plant virology. Mendelian genetics and resistance of plants to viruses.}, journal = {The new microbiologica}, volume = {24}, number = {4}, pages = {409-424}, pmid = {11718380}, issn = {1121-7138}, mesh = {Botany/history ; Genetics/*history ; History, 19th Century ; History, 20th Century ; Plants/genetics/*virology ; Virology/*history ; }, abstract = {Virology was borne at the end of the nineteenth century, some years before the re-discovery of the so-called "Mendel's Laws". The rapid development of genetics was helpful to horticulturists and plant pathologists to produce hybrids of important cropping species resistant to several virus diseases. The concepts of Mendelian genetics were applied to plant virology by Francis Oliver Holmes, an American scientist who must be considered a pioneer in several fields of modern plant virology. During the Thirties, Holmes studied in particular the hypersensitive response of solanaceous plants to TMV and discovered the N dominant gene of tobacco hypersensitive to this virus. After the Second World War, the theoretic and practical support given by geneticists assisted plant virologists in better understanding the mechanism of inheritance of the character "resistance". The major problems posed by breeding for plant resistance were detected and critically discussed in several reviews published between the Fifties and the Sixties. These results, together with the discovery of the genetic functions of RNA virus raised interest on the possible relations between viral and plant genes. This fundamental subject saw the entry into the virological scene of molecular genetics, and in 1970 the Russian virologist Joseph Atabekov introduced host specificity to viruses as a central point of plant virology. From the mid 1980s, this point attracted the interest of several virologists, and many results led to several theoretic models of genetic interactions between plant and virus products. In the last fifteen years, the introduction of transgenic plants has given a remarkable contribution to the question of host specificity, which, however, still awaits a general explanation.}, } @article {pmid11625618, year = {1999}, author = {Martins, LA}, title = {[McClung and gender determination: from wrong to right].}, journal = {Historia, ciencias, saude--Manguinhos}, volume = {6}, number = {2}, pages = {235-256}, doi = {10.1590/s0104-59701999000300001}, pmid = {11625618}, issn = {0104-5970}, mesh = {*Extrachromosomal Inheritance ; Genetics/*history ; History, 19th Century ; History, 20th Century ; *Sex ; United States ; }, abstract = {Focusing primarily on McClung's hypothesis linking the extra chromosome (X) to gender determination, the article studies some contributions derived from the initial stages in development of the chromosome theory of gender determination. The arguments of McClung and others are analyzed, along with the reaction of the era's scientific community. Although McClung's hypothesis was wrong, it triggered a series of research studies that eventually led to clarification of the question. Even mistaken hypotheses, when adopted for investigation and testing, can contribute to scientific development.}, } @article {pmid11623536, year = {1998}, author = {Turney, J}, title = {Public visions of genetics. [Review of: Dijck, JV. Imagenation: popular images of genetics. Macmillan, 1998. Mawer, S. Mendel's dwarf. Doubleday, 1997].}, journal = {Public understanding of science (Bristol, England)}, volume = {7}, number = {4}, pages = {343-348}, doi = {10.1088/0963-6625/7/4/006}, pmid = {11623536}, issn = {0963-6625}, mesh = {Genetics/*history ; *Historiography ; History, 19th Century ; History, 20th Century ; Literature/history ; Medicine, Traditional/history ; *Public Opinion ; }, } @article {pmid11619806, year = {1998}, author = {Magnello, ME}, title = {Karl Pearson's mathematization of inheritance: from ancestral heredity to Mendelian genetics (1895-1909).}, journal = {Annals of science}, volume = {55}, number = {1}, pages = {35-94}, doi = {10.1080/00033799800200111}, pmid = {11619806}, issn = {0003-3790}, support = {//Wellcome Trust/United Kingdom ; }, mesh = {Biometry/*history ; Genetics/*history ; Genetics, Population/*history ; History, 19th Century ; History, 20th Century ; *Pedigree ; Statistics as Topic/*history ; United Kingdom ; }, abstract = {Long-standing claims have been made for nearly the entire twentieth century that the biometrician, Karl Pearson, and colleague, W. F. R. Weldon, rejected Mendelism as a theory of inheritance. It is shown that at the end of the nineteenth century Pearson considered various theories of inheritance (including Francis Galton's law of ancestral heredity for characters underpinned by continuous variation), and by 1904 he 'accepted the fundamental idea of Mendel' as a theory of inheritance for discontinuous variation. Moreover, in 1909, he suggested a synthesis of biometry and Mendelism. Despite the many attempts made by a number of geneticists (including R. A. Fisher in 1936) to use Pearson's chi-square (X2, P) goodness-of-fit test on Mendel's data, which produced results that were 'too good to be true', Weldon reached the same conclusion in 1902, but his results were never acknowledged. The geneticist and arch-rival of the biometricians, Williams Bateson, was instead exceptionally critical of this work and interpreted this as Weldon's rejection of Mendelism. Whilst scholarship on Mendel, by historians of science in the last 18 years, has led to a balanced perspective of Mendel, it is suggested that a better balanced and more rounded view of the hereditarian-statistical work of Pearson, Weldon, and the biometricians is long overdue.}, } @article {pmid11566112, year = {2001}, author = {Williams, N}, title = {When Mendel's work went public.}, journal = {Current biology : CB}, volume = {11}, number = {18}, pages = {R727}, doi = {10.1016/s0960-9822(01)00430-4}, pmid = {11566112}, issn = {0960-9822}, mesh = {Genetics/*history ; History, 19th Century ; History, 20th Century ; Plants/*genetics ; United Kingdom ; }, } @article {pmid11514434, year = {2001}, author = {Crow, JF}, title = {Plant breeding giants. Burbank, the artist; Vavilov, the scientist.}, journal = {Genetics}, volume = {158}, number = {4}, pages = {1391-1395}, pmid = {11514434}, issn = {0016-6731}, mesh = {Crosses, Genetic ; Genetics/*history ; History, 19th Century ; History, 20th Century ; Plants/*genetics ; Russia ; United States ; }, } @article {pmid11488142, year = {2000}, author = {Rheinberger, HJ}, title = {[Carl Correns' experiments with Pisum, 1896-1899].}, journal = {History and philosophy of the life sciences}, volume = {22}, number = {2}, pages = {187-218}, pmid = {11488142}, issn = {0391-9714}, mesh = {History, 19th Century ; *Hybridization, Genetic ; Peas/*genetics ; *Research Design ; }, abstract = {The circumstances under which classical genetics became established at the turn of the nineteenth century have become an integral part of the standard narrative on the history of genetics. Yet, despite considerable scholarly efforts, it has remained a matter of debate how exactly the so-called 'rediscovery' of Mendel's laws came about around 1900. In this situation, unpublished research records can be invaluable tools to arrive at a more substantial and more satisfying picture of the order of historical events. This paper makes extended use of the research protocols covering Carl Correns' hybridisation experiments with Pisum sativum between 1896 and 1899. The resulting reconstruction sketches the portrait of a scientist following a particular research question--xenia--struggling with his experimental material, and slowly building up an epistemic regime in which questions and observations could acquire a relevance which did not strike Correns when he first took note of them. The microhistorical gaze through the magnifying glass of research notes reveals the kind of delays that appear to be constitutive for empirically-driven thinking in general. The research notes of Correns help not only to make this point, they also display some of the intricacies and material peculiarities which characterise the experimental process of hybridisation and the particular type of inferences it allows one to make.}, } @article {pmid11484677, year = {2001}, author = {Manchester, KL}, title = {Antoine Béchamp: pere de la biologie. Oui ou non?.}, journal = {Endeavour}, volume = {25}, number = {2}, pages = {68-73}, doi = {10.1016/s0160-9327(00)01361-2}, pmid = {11484677}, issn = {0160-9327}, mesh = {Biology/*history ; France ; History, 19th Century ; Scientific Misconduct/*history ; }, abstract = {There is an alternative medicine lobby that, in conjunction with antivivisectionists, believes Louis Pasteur to have been a fraud [R. Bottomley's You Don't Have to Feel Unwell! (Newleaf, 1994) is a recent example]. They frame their accusations around a rivalry between Pasteur and a contemporary, Antoine Béchamp, from whom they suggest Pasteur stole his ideas and then distorted them for his own purposes. This article explores some aspects of the controversies between Béchamp and Pasteur.}, } @article {pmid11441497, year = {2001}, author = {Richmond, ML}, title = {Women in the early history of genetics. William Bateson and the Newnham College Mendelians, 1900-1910.}, journal = {Isis; an international review devoted to the history of science and its cultural influences}, volume = {92}, number = {1}, pages = {55-90}, doi = {10.1086/385040}, pmid = {11441497}, issn = {0021-1753}, mesh = {England ; Genetics/*history ; History, 19th Century ; History, 20th Century ; Women/*history ; }, abstract = {William Bateson was one of the pivotal figures in the early history of genetics, having championed the promise of Mendelism to unravel the secrets of heredity. Many refer to the "school" of genetics he directed at Cambridge between 1900 and 1910, but few note that Bateson's group consisted primarily of women. Bateson turned to botanists, zoologists, and physiologists associated with Newnham College, Cambridge, for critical assistance in advancing his research program at a time when Mendelism was not yet recognized as a legitimate field of study. Cambridge women carried out a series of breeding experiments in a number of plant and animal species between 1902 and 1910, the results of which provided crucial evidence that both supported and extended Mendel's laws of heredity. This essay shows how the situation of women in science in the early twentieth century was a factor--along with scientific, institutional, social, and political developments--in establishing the new discipline of genetics.}, } @article {pmid11404315, year = {2001}, author = {Doebley, J}, title = {George Beadle's other hypothesis: one-gene, one-trait.}, journal = {Genetics}, volume = {158}, number = {2}, pages = {487-493}, pmid = {11404315}, issn = {0016-6731}, mesh = {*Genes, Plant ; Genetics/*history ; History, 20th Century ; United States ; Zea mays/genetics/*history ; }, } @article {pmid11353700, year = {2001}, author = {Fairbanks, DJ and Rytting, B}, title = {Mendelian controversies: a botanical and historical review.}, journal = {American journal of botany}, volume = {88}, number = {5}, pages = {737-752}, pmid = {11353700}, issn = {0002-9122}, abstract = {Gregor Mendel was a 19(th) century priest and botanist who developed the fundamental laws of inheritance. The year 2000 marked a century since the rediscovery of those laws and the beginning of genetics. Although Mendel is now recognized as the founder of genetics, significant controversy ensued about his work throughout the 20(th) century. In this paper, we review five of the most contentious issues by looking at the historical record through the lens of current botanical science: (1) Are Mendel's data too good to be true? (2) Is Mendel's description of his experiments fictitious? (3) Did Mendel articulate the laws of inheritance attributed to him? (4) Did Mendel detect but not mention linkage? (5) Did Mendel support or oppose Darwin?A synthesis of botanical and historical evidence supports our conclusions: Mendel did not fabricate his data, his description of his experiments is literal, he articulated the laws of inheritance attributed to him insofar as was possible given the information he had, he did not detect linkage, and he neither strongly supported nor opposed Darwin.}, } @article {pmid11258391, year = {2000}, author = {Hughes, NC}, title = {The rocky road to Mendel's play.}, journal = {Evolution & development}, volume = {2}, number = {2}, pages = {63-66}, doi = {10.1046/j.1525-142x.2000.00051.x}, pmid = {11258391}, issn = {1520-541X}, mesh = {Animals ; *Biological Evolution ; China ; Developmental Biology ; Fossils ; History, Ancient ; Invertebrates/genetics ; Molecular Biology ; }, } @article {pmid11258370, year = {2001}, author = {Richardson, MK and Keuck, G}, title = {A question of intent: when is a 'schematic' illustration a fraud?.}, journal = {Nature}, volume = {410}, number = {6825}, pages = {144}, doi = {10.1038/35065834}, pmid = {11258370}, issn = {0028-0836}, mesh = {Animals ; Embryology/*history ; History, 19th Century ; History, 20th Century ; Medical Illustration/*history ; Scientific Misconduct/*history ; Tachyglossidae/embryology ; }, } @article {pmid11242005, year = {2001}, author = {Adam, D}, title = {Museum suffers spiritual cramps over Mendel's work.}, journal = {Nature}, volume = {410}, number = {6824}, pages = {6}, doi = {10.1038/35065233}, pmid = {11242005}, issn = {0028-0836}, mesh = {Czech Republic ; Genetics/*history ; History, 19th Century ; *Museums ; Religion/history ; }, } @article {pmid11231475, year = {2001}, author = {Jay, V}, title = {Gregor Johann Mendel.}, journal = {Archives of pathology & laboratory medicine}, volume = {125}, number = {3}, pages = {320-321}, doi = {10.5858/2001-125-0320-GJM}, pmid = {11231475}, issn = {0003-9985}, mesh = {Austria ; Genetics/*history ; History, 19th Century ; }, } @article {pmid11231162, year = {2001}, author = {Williams, N}, title = {Mendel's demon.}, journal = {Current biology : CB}, volume = {11}, number = {3}, pages = {R80-1}, doi = {10.1016/s0960-9822(01)00033-1}, pmid = {11231162}, issn = {0960-9822}, mesh = {*Genetics ; *Life ; }, } @article {pmid11147102, year = {2000}, author = {Veuille, M}, title = {Genetics and the evolutionary process.}, journal = {Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie}, volume = {323}, number = {12}, pages = {1155-1165}, doi = {10.1016/s0764-4469(00)01256-7}, pmid = {11147102}, issn = {0764-4469}, mesh = {Animals ; *Biological Evolution ; DNA/genetics ; Genetics/*history ; History, 19th Century ; History, 20th Century ; Humans ; Philosophy/history ; *Selection, Genetic ; }, abstract = {Population genetics was put forward as a mathematical theory between 1918 and 1932 and played a leading part in the rediscovery of the concept of natural selection. As an autonomous science developing Mendel's laws at the population scale and a key element of the Darwinian theory of evolution, its dual status led its practioners to initially overlook some consequences of Mendelism not accounted for by the Darwinian theory, including random drift and the cost of selection. The latter were put forward on purely theoretical grounds in the 1950s, but their importance was acknowledged only when empirical data on protein evolution and enzyme polymorphism (since 1965) and on DNA variation (since 1983) were obtained. The neutralist/selectionist debate that ensued involved disagreement over the scientific method as well as over the mechanisms of molecular evolution. Population genetics has long assumed the existence of natural selection a priori. It has since recentred around the null hypothesis that molecular evolution is neutral. This new approach, applied to sequence comparison and to the study of linkage disequilibrium, is logically more justified, yet empirical observations derived from it paradoxically show the overwhelming importance of selective effects within genomes.}, } @article {pmid11147101, year = {2000}, author = {Morange, M}, title = {Gene function.}, journal = {Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie}, volume = {323}, number = {12}, pages = {1147-1153}, doi = {10.1016/s0764-4469(00)01264-6}, pmid = {11147101}, issn = {0764-4469}, mesh = {Animals ; Genetics/*history/trends ; Genetics, Medical/history/trends ; History, 19th Century ; History, 20th Century ; Humans ; Molecular Biology/*history/trends ; Philosophy ; Proteins/genetics ; }, abstract = {The problem of gene function--of the relationships between hereditary material and the characteristics of organisms--preceded the rediscovery of Mendel's laws and accompanied the development of genetics in the XXth century. Molecular biologists replaced the simple gene-character relationship by two relationships: the first, between genes and proteins, was well defined, whereas the second between proteins and the complex structural and functional characteristics of organisms remained unknown. I will describe in this article the experimental approaches which helped to characterize during the last twenty years the relationships between proteins and characters. Four principles of macromolecular organization emerged from these studies: conservation of the elementary components during evolution, existence of pathways and networks, pleiotropy and redundancy. These principles are the explanation of the surprising experimental observations that have been made in recent years. The existence of these principles makes problematic any prediction on the consequences of gene modification. It both sounds the death-knell of the simplistic reductionist approach of many biologists, whereby genes were considered as responsible for specific functions, and definitely prevents the distribution of genes in separate, well defined categories.}, } @article {pmid11147098, year = {2000}, author = {Gaudillière, JP}, title = {Mendelism and medicine: controlling human inheritance in local contexts, 1920-1960.}, journal = {Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie}, volume = {323}, number = {12}, pages = {1117-1126}, doi = {10.1016/s0764-4469(00)01268-3}, pmid = {11147098}, issn = {0764-4469}, mesh = {Animals ; Eugenics/history ; France ; Genetic Diseases, Inborn/genetics/history ; Genetics/*history ; Genetics, Medical/*history ; History, 19th Century ; History, 20th Century ; Humans ; Pediatrics/history ; Plants/genetics ; United Kingdom ; }, abstract = {The rise of Mendelism has often been associated with the development of agricultural sciences and the attempts to improve varieties and select new plants. In contrast, historians have tended to stress the tensions between Mendelism and medicine originating in the influence of eugenicists. The use of Mendel's laws in the context of discussing human inheritance and the transmission of pathologies was nonetheless pervading the medical literature from the 1920s onwards. This paper investigates the dynamics of medical Mendelism by comparing developments in France and in Britain. In contrast to reluctant botanists and zoologists, the elite of the French medical profession was often 'Mendelian'. Mendel's laws have accordingly been integrated into a complex approach to the familial transmission of pathologies, into a theory of pathological inheritance, which combined genetics, germ theory and hygiene. This approach was widely accepted among the paediatricians and obstetricians active in both the eugenics movement and the natalist movement. The career of the pediatrician R. Turpin is a good example of the visibility of this form of medical Mendelism and of its long-lasting impact on genetic research in the country. In Britain, where the social basis of eugenics was not the medical profession, eugenics' claims often clashed with public health and hygiene priorities. Medical Mendelism was in the first place supported and advanced by doctors and scientists participating in the public debates about the care of 'feeble minded' and the classification of social groups. As revealed by the trajectory of L. Penrose this context favoured the linkage between statistics and pedigree analysis, thus leading to the 'Mendelization' of human pathologies. After the war, this Mendelization in turn facilitated the rise of medical genetics as a speciality focusing on genetic counselling and on the management of computable hereditary risks. This comparative analysis thus highlights: a) the influence of local medical cultures on the fate of Mendelism; b) the continuities between the pre-war studies of pathological inheritance and the post-war rise of medical genetics.}, } @article {pmid11147097, year = {2000}, author = {Roll-Hansen, N}, title = {Theory and practice: the impact of Mendelism on agriculture.}, journal = {Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie}, volume = {323}, number = {12}, pages = {1107-1116}, doi = {10.1016/s0764-4469(00)01259-2}, pmid = {11147097}, issn = {0764-4469}, mesh = {Agriculture/*history ; Animal Husbandry/history ; Animals ; Genetics/*history ; History, 19th Century ; History, 20th Century ; Plants/*genetics ; Sweden ; }, abstract = {The purpose of this paper is a reexamination of the success story of how Mendelian genetics gave birth to a revolution in plant and animal breeding which produced the spectacular 20th century agricultural progress and made it possible to feed the exploding population of the Earth. Critics have pointed to the problematic social effect of the agricultural revolution, and they have doubted the importance of the new genetics, especially during the first three or four decades of the 20th century. This paper argues that the criticism has tended to take a narrow instrumental view of science underestimating the guiding role of theory in practical matters. Plant and animal breeding continued to depend mainly on the old 19th century techniques, hybridization, mass selection and individual selection. But they were combined and used in much more efficient ways than before. New theoretical knowledge, general theories as well as particular knowledge about species, strains and individuals, radically improved the planning and execution of breeding work.}, } @article {pmid11147095, year = {2000}, author = {Rheinberger, HJ}, title = {Mendelian inheritance in Germany between 1900 and 1910. The case of Carl Correns (1864-1933).}, journal = {Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie}, volume = {323}, number = {12}, pages = {1089-1096}, doi = {10.1016/s0764-4469(00)01267-1}, pmid = {11147095}, issn = {0764-4469}, mesh = {Fertilization ; Genetics/*history ; Germany ; History, 19th Century ; History, 20th Century ; Peas/genetics/physiology ; Plants/*genetics ; Zea mays/genetics/physiology ; }, abstract = {Carl Correns (1864-1933) came to recognize Mendel's rules between 1894 and 1900 while trying to find out the mechanism of xenia, that is, the direct influence of the fertilizing pollen on the mother plant in maize and peas among other species. In this paper, I am concerned with the ten years of Correns' work after the annus mirabilis of 1900 until 1910, when the main outlines of the new science of genetics had been established. It is generally assumed that after 1900 Correns quickly began probing the limits of Mendelian inheritance, both as far as the explanatory force of formal transmission genetics and the generality of Mendel's laws are concerned. A careful examination of his papers however shows that he was much more interested in the scope of Mendelian inheritance than in its limits. Even his work with variegated Mirabilis plants, which historiographical folklore still presents as a result of Correns' growing interest in cytoplasmic inheritance, can be shown to have been conducted to corroborate just the opposite, namely, the validity of the nuclear paradigm. The paper will show that Correns' research results in those years (among them the Mendelian inheritance of sex in higher plants) were the outcome of a complex experimental program which involved breeding experiments with dozens of different species.}, } @article {pmid11147094, year = {2000}, author = {Allen, GE}, title = {The reception of Mendelism in the United States, 1900-1930.}, journal = {Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie}, volume = {323}, number = {12}, pages = {1081-1088}, doi = {10.1016/s0764-4469(00)01254-3}, pmid = {11147094}, issn = {0764-4469}, mesh = {Animal Husbandry/history ; Animals ; Biology/*history ; Breeding/history ; Genetics/*history ; History, 19th Century ; History, 20th Century ; Plants/genetics ; United States ; }, abstract = {Scholars have differed on the question of why Mendel's work was neglected between 1865 and 1900, and the (by contrast) relatively rapid acceptance of Mendelism in many countries after 1900. This paper focuses on two factors that have not been well explored in the debate. The first is that Mendelism fit perfectly into the atomistic philosophy associated with mechanistic materialism in western science, and thus was strongly promoted by a younger group of biologists around 1900 to raise the prestige of biology to the rigorous level of the physical sciences. The second factor was that Mendelian theory, with its experimental and predictive qualities, fit well into the new demands for industrialization of agriculture both to feed a growing urban population and to provide an arena for capital expansion. This paper proposes that the early promotion of Mendelian research, by both private and public funds, owed as much to economic and social as to biological causes.}, } @article {pmid11147093, year = {2000}, author = {Sloan, PR}, title = {Mach's phenomenalism and the British reception of Mendelism.}, journal = {Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie}, volume = {323}, number = {12}, pages = {1069-1079}, doi = {10.1016/s0764-4469(00)01255-5}, pmid = {11147093}, issn = {0764-4469}, mesh = {Animals ; Genetics/*history ; History, 19th Century ; History, 20th Century ; Mathematics/history ; Philosophy ; Science/history/methods ; United Kingdom ; Zoology/history ; }, abstract = {The assimilation of Mendel's paper into Britain took place in an Edwardian social context. This paper concentrates on the interplay of empirical and philosophical issues in this reception. A feature of the British reception of mendelism, not duplicated elsewhere, was the role of phenomenalist philosophies of science as developed by the physicist-mathematician and scientific methodologist Karl Pearson from the philosophical positions of Austrian physicist Ernst Mach and British mathematician William Clifford. Pearson's philosophy of science forms the background to his subsequent collaboration with the zoologist W.F.R. Weldon. In this collaborative work, Pearson developed powerful statistical techniques for analyzing Weldon's empirical data on organic variation. Pearson's statistical analysis of causation and his rejection of hidden entities and causes in the explanation of evolutionary change formed the philosophical component of this program. The arguments of Pearson and Weldon were first brought to bear against the pre-Mendel 'discontinuist' analyses of variation of William Bateson. The introduction of Mendel's paper into these empirical and methodological debates consequently resulted in mathematically sophisticated attacks on Mendel's claims by Pearson and Weldon. This paper summarizes this history and argues for the creative importance of this biometrical resistance to Mendelism.}, } @article {pmid11147092, year = {2000}, author = {Harwood, J}, title = {The rediscovery of Mendelism in agricultural context: Erich von Tschermak as plant-breeder.}, journal = {Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie}, volume = {323}, number = {12}, pages = {1061-1067}, doi = {10.1016/s0764-4469(00)01258-0}, pmid = {11147092}, issn = {0764-4469}, mesh = {Agriculture/*history ; Genetics/*history ; Germany ; History, 19th Century ; History, 20th Century ; Plants/*genetics ; }, abstract = {Why was Mendelism rediscovered? One way in which historians have addressed this issue is to look at wider trends in research during the 1890s of which the rediscoverers were part. Quite a lot is known about one such research tradition, namely the attempts to resolve the question of evolutionary mechanism through the use of varietal crosses. But another relevant research tradition is still largely unknown: the work of commercial breeders, several of whom were using hybridisation by the 1890s. In this paper I begin by looking at Tschermak's initial career, the sequence of events by which he came upon Mendel's work, and why he was excited by what he read. Then I place Tschermak's early work in the context of commercial plant-breeding in German-speaking Europe toward the end of the 19th century. Finally I look again at the question of Tschermak's somewhat ambivalent relationship to Mendelism after 1900. I argue that his initial misunderstanding of the concept of segregation was due to the fact that he approached Mendel's work with the perspective of a breeder rather than that of a geneticist.}, } @article {pmid11147091, year = {2000}, author = {Lenay, C}, title = {Hugo De Vries: from the theory of intracellular pangenesis to the rediscovery of Mendel.}, journal = {Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie}, volume = {323}, number = {12}, pages = {1053-1060}, doi = {10.1016/s0764-4469(00)01250-6}, pmid = {11147091}, issn = {0764-4469}, mesh = {Books ; Genetics/*history ; History, 19th Century ; History, 20th Century ; Plants/*genetics ; }, abstract = {On the basis of the article by the Dutch botanist Hugo De Vries 'On the law of separation of hybrids' published in the Reports of the Académie des Sciences in 1900, and the beginning of the controversy about priority with Carl Correns and Erich von Tschermak, I consider the question of the posthumous influence of the Mendel paper. I examine the construction of the new theoretical framework which enabled its reading in 1900 as a clear and acceptable presentation of the rules of the transmission of hereditary characters. In particular, I analyse the introduction of the idea of determinants of organic characters, understood as separable material elements which can be distributed randomly in descendants. Starting from the question of heredity, such as it was defined by Darwin in 1868, and after its critical developments by August Weismann, Hugo De Vries was able to suggest such an idea in his Intracellular Pangenesis. He then laid out a programme of research which helps us to understand the 'rediscovery' published in 1900.}, } @article {pmid11147090, year = {2000}, author = {Olby, R}, title = {Mendelism: from hybrids and trade to a science.}, journal = {Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie}, volume = {323}, number = {12}, pages = {1043-1051}, doi = {10.1016/s0764-4469(00)01253-1}, pmid = {11147090}, issn = {0764-4469}, mesh = {Austria ; England ; Genetics/*history ; History, 19th Century ; History, 20th Century ; Hybridization, Genetic ; Plants/*genetics ; }, abstract = {In this paper I explore the historical context in which news of the rediscovery of Mendel's laws was received in England. This exploration leads me to the Cambridge zoologist, William Bateson, to his exploitation of the prestige and support of the Royal Horticultural Society, and to his interaction with certain of the leading horticultural tradesmen prominent in that society. I argue that the policy of the RHS in the 1890s to promote hybridisation rather than plant collecting was of crucial importance in bringing about a productive symbiosis between Bateson and his circle and the horticultural community. I look for parallels between the aims of the horticulturists and the character of the Mendelian programme as it is represented in Bateson's foundational text: Mendel's Principles of Heredity (1909).}, } @article {pmid11147089, year = {2000}, author = {Orel, V and Wood, RJ}, title = {Essence and origin of Mendel's discovery.}, journal = {Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie}, volume = {323}, number = {12}, pages = {1037-1041}, doi = {10.1016/s0764-4469(00)01266-x}, pmid = {11147089}, issn = {0764-4469}, mesh = {Animals ; Austria ; Fabaceae/*genetics ; France ; Genetics/*history ; History, 19th Century ; Peas/genetics ; *Plants, Medicinal ; }, abstract = {In early 19th-century Moravia, breeders of animals and plants joined with other interested citizens in the Moravian and Silesian Agricultural Society to debate economic priorities. Several of the senior members had a profound influence upon breeding theory: J.K. Nestler, Professor of Natural History and Agriculture at the University of Olomouc, left a collection of influential writings. In the context of sheep breeding he defined 'inheritance capacity' (Vererbungsfähigkeit), 'hereditary history' (Vererbungsgeschichte) and 'developmental history' (Entwicklungsgeschichte). His linking of the last two terms, as two sides of the same coin, puts Mendel's use of the second one in context. Professor F. Diebl taught the same topics as Nestler at the Philosophical Institute in Brno, with a bias towards plants. Diebl's lectures were attended by Mendel who gained top marks in three examinations. Diebl stressed the importance of artificial pollination to produce new varieties and recognised peas and beans as suitable subjects for the procedure. Prelate Cyrill Napp, abbot before Mendel, had a deep interest in heredity and how it was transmitted through both sexes. He generously supported Mendel's research. A happy blend of economic and academic influences, together with original talent and inner drive, led to Mendel's great discovery.}, } @article {pmid11141459, year = {2001}, author = {Rojas Martínez, A and Ortiz López, R and Delgado Enciso, I}, title = {[Genetics and molecular medicine in cardiology].}, journal = {Revista espanola de cardiologia}, volume = {54}, number = {1}, pages = {91-108}, doi = {10.1016/s0300-8932(01)76268-9}, pmid = {11141459}, issn = {0300-8932}, mesh = {Cardiology/*methods ; Cell Division ; Chromosome Mapping ; DNA ; *Genetics ; Genome, Human ; Humans ; *Molecular Biology ; }, abstract = {The discoveries on molecular aspects of cellular function are changing the concepts of health and disease. All medical fields, including cardiology, have been enriched with several diagnostic test to determine predisposition and to detect molecular dysfunctions. This review on the genetic and molecular aspects of cardiovascular diseases is written at the Centenary of the rediscovery of Mendel's principles on heredity and at the time of the announcement of the end of the human genome sequencing task. The review starts with considerations on the pluricellular constitution of the human body, and the principles of genetics with their molecular bases; including a short description of the methods for gene mapping. The following sections give a historic synopsis on the concepts of medical genetics, molecular medicine, and the Human Genome Project. The review ends with a brief description of the spectrum of genetic diseases, using examples of cardiovascular diseases.}, } @article {pmid10978270, year = {2000}, author = {Klein, J}, title = {Johann Mendel's field of dreams.}, journal = {Genetics}, volume = {156}, number = {1}, pages = {1-6}, pmid = {10978270}, issn = {0016-6731}, mesh = {Genetics/*history ; Germany ; History, 19th Century ; }, } @article {pmid10973065, year = {2000}, author = {Veuille, M}, title = {1900-2000: how the mendelian revolution came about. The rediscovery of Mendel's laws (1900), International Conference, Paris, 23-25 March 2000.}, journal = {Trends in genetics : TIG}, volume = {16}, number = {9}, pages = {380}, doi = {10.1016/s0168-9525(00)02070-9}, pmid = {10973065}, issn = {0168-9525}, mesh = {Animals ; Breeding/history ; Genetics/*history ; History, 20th Century ; }, } @article {pmid10858968, year = {2000}, author = {Orel, V and Wood, RJ}, title = {Scientific animal breeding in Moravia before and after the rediscovery of Mendel's theory.}, journal = {The Quarterly review of biology}, volume = {75}, number = {2}, pages = {149-157}, doi = {10.1086/393378}, pmid = {10858968}, issn = {0033-5770}, mesh = {Animal Husbandry/*history ; Animals ; Genetics/*history ; Germany ; History, 19th Century ; History, 20th Century ; Models, Genetic ; *Selection, Genetic ; Sheep/*genetics ; }, abstract = {Leading Moravian sheep breeders, who joined with university professors and other educated citizens to form a Sheep Breeders' Society in 1814, looked to science to provide a reliable basis for breeding. Their activities reached a climax in the 1830s, when they defined and focused on heredity as the central research goal. Among the members taking part was Abbot Cyrill F Napp, who in 1843 would accept Mendel into the monastery. The contributions of Abbot Napp to the sheep breeders' view of heredity are here described. After 1900, when Moravian animal breeding sought to embrace Mendelism, in competition with other theories, a major influence was exerted by Jaroslav Krízenecký (1896-1964). In 1963, Krízenecký accepted responsibility for establishing the Mendel Museum (Mendelianum) in Brno as a vehicle for historical research into the origin and essence of Mendel's discovery.}, } @article {pmid10823235, year = {1998}, author = {Orel, V}, title = {Constant hybrids in Mendel's research.}, journal = {History and philosophy of the life sciences}, volume = {20}, number = {3}, pages = {291-299}, pmid = {10823235}, issn = {0391-9714}, mesh = {Genetics/history ; History, 19th Century ; History, 20th Century ; *Hybridization, Genetic ; Plants/*genetics ; }, abstract = {The persisting controversial interpretation of constant hybrids and of the term Entwicklungsgeschichte, mentioned by Mendel in the Pisum paper, is elucidated in the context of his experiments with other plant species and of the growth of knowledge in scientific animal and plant breeding in Moravia.}, } @article {pmid10766631, year = {2000}, author = {Koenig, R}, title = {Genetics. Uphill battle to honor monk who demystified heredity.}, journal = {Science (New York, N.Y.)}, volume = {288}, number = {5463}, pages = {37-39}, doi = {10.1126/science.288.5463.37}, pmid = {10766631}, issn = {0036-8075}, mesh = {*Academies and Institutes ; Austria ; Czech Republic ; Genetics/*history ; History, 19th Century ; }, } @article {pmid10763433, year = {2000}, author = {Gans, M}, title = {[The discovery of hybridization].}, journal = {Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie}, volume = {323}, number = {2}, pages = {147-151}, doi = {10.1016/s0764-4469(00)00120-7}, pmid = {10763433}, issn = {0764-4469}, mesh = {Animals ; Breeding/history ; Drosophila/genetics ; Genetics ; History, 19th Century ; History, 20th Century ; *Hybridization, Genetic ; Plants/*genetics ; }, } @article {pmid10747041, year = {2000}, author = {Edwards, AW}, title = {The genetical theory of natural selection.}, journal = {Genetics}, volume = {154}, number = {4}, pages = {1419-1426}, pmid = {10747041}, issn = {0016-6731}, mesh = {England ; History, 20th Century ; *Models, Genetic ; *Selection, Genetic ; }, } @article {pmid10717687, year = {2000}, author = {Band, HT}, title = {Sir Ronald Fisher and natural selection.}, journal = {Trends in ecology & evolution}, volume = {15}, number = {4}, pages = {161-162}, doi = {10.1016/s0169-5347(00)01824-3}, pmid = {10717687}, issn = {1872-8383}, } @article {pmid10628964, year = {2000}, author = {Sandler, I}, title = {Development. Mendel's legacy to genetics.}, journal = {Genetics}, volume = {154}, number = {1}, pages = {7-11}, pmid = {10628964}, issn = {0016-6731}, mesh = {Genetics/*history ; History, 19th Century ; History, 20th Century ; }, } @article {pmid10616278, year = {1999}, author = {Zheng, Q}, title = {Progress of a half century in the study of the Luria-Delbrück distribution.}, journal = {Mathematical biosciences}, volume = {162}, number = {1-2}, pages = {1-32}, doi = {10.1016/s0025-5564(99)00045-0}, pmid = {10616278}, issn = {0025-5564}, mesh = {Genetics/*history ; History, 20th Century ; *Models, Genetic ; *Mutation ; Poisson Distribution ; }, abstract = {The Luria-Delbrück mutation model has been mathematically formulated in a number of ways. This review article examines four most important formulations, focusing on important practical issues closely linked with the distribution of the number of mutants. These issues include the probability generating functions, moments (cumulants), computational methods and asymptotics. This review emphasizes basic principles which not only help to unify existing results but also allow for a few useful extensions. In addition, the review offers a historical perspective and some new explanations of divergent moments.}, } @article {pmid10498959, year = {1999}, author = {Reardon, EM}, title = {Release 7.0 of Mendel database.}, journal = {Trends in plant science}, volume = {4}, number = {10}, pages = {385}, doi = {10.1016/s1360-1385(99)01474-0}, pmid = {10498959}, issn = {1878-4372}, } @article {pmid10439561, year = {1999}, author = {Stamhuis, IH and Meijer, OG and Zevenhuizen, EJ}, title = {Hugo de Vries on heredity, 1889-1903. Statistics, Mendelian laws, pangenes, mutations.}, journal = {Isis; an international review devoted to the history of science and its cultural influences}, volume = {90}, number = {2}, pages = {238-267}, doi = {10.1086/384323}, pmid = {10439561}, issn = {0021-1753}, mesh = {Genes, Plant ; Genetics/*history ; History, 19th Century ; History, 20th Century ; Humans ; Netherlands ; }, abstract = {The essay describes the development of Hugo de Vries's thinking on heredity from the publication of his Intracellulare Pangenesis in 1889 to the publication of Die Mutations-theorie, Volume 2, in 1903. De Vries's work in the 1890s can be characterized as an attempt to defend his theory of pangenes, especially the fundamental and controversial idea that different characters have different material hereditary carriers. Hybridization experiments served his goal. Recently discovered research notes on hybridization from 1896 suggest that, though he was unaware of Mendel's work, De Vries used the laws of dominance and recessiveness, segregation, and independent assortment to explain the 75:25 ratio in the second generation. He had discovered these laws by applying insights from probability theory to his research. In Die Mutationstheorie De Vries combined central concepts of intracellular pangenesis and his mutation theory by modifying the meanings of important terms and introducing new states of pangenes. In his attempts to describe Mendelian crossings in terms of pangenes and mutations, he became entangled in a number of contradictions. Some of his remarks suggest that he was aware that the Mendelian laws and his own theories of pangenes and mutations could not be made consistent.}, } @article {pmid10423933, year = {1999}, author = {Muzrukova, EB}, title = {[The incomplete pathways of theoretical biology: the gene theory].}, journal = {Izvestiia Akademii nauk. Seriia biologicheskaia}, volume = {}, number = {2}, pages = {221-227}, pmid = {10423933}, issn = {1026-3470}, mesh = {Animals ; Chromosomes/genetics ; Genes/genetics ; Genetics/*history ; History, 19th Century ; History, 20th Century ; Molecular Biology/*history ; }, abstract = {The first cognitive-theoretical model in genetics developed by Morgan and his disciples on the basis of physicochemical reductionism is reviewed. The pathway of the gene theory remains unfinished due to many reasons, nevertheless, Morgan left it open for further development and integration with other disciplines.}, } @article {pmid10396604, year = {1999}, author = {Cox, TM}, title = {Mendel and his legacy.}, journal = {QJM : monthly journal of the Association of Physicians}, volume = {92}, number = {4}, pages = {183-186}, doi = {10.1093/qjmed/92.4.183}, pmid = {10396604}, issn = {1460-2725}, mesh = {Czechoslovakia ; Genetics/*history ; History, 19th Century ; }, } @article {pmid10388105, year = {1998}, author = {Machtay, M and Glatstein, E}, title = {"Just Another Statistic".}, journal = {The oncologist}, volume = {3}, number = {3}, pages = {III-IV}, pmid = {10388105}, issn = {1549-490X}, abstract = {On returning from a medical meeting, we learned that sadly a patient, "Mr. B.," had passed away. His death was a completely unexpected surprise. He had been doing well nine months after a course of intensive radiotherapy for a locally advanced head and neck cancer; in his most recent follow-up notes, he was described as a "complete remission." Nonetheless, he apparently died peacefully in his sleep from a cardiac arrest one night and was found the next day by a concerned neighbor. In our absence, after Mr. B. expired, his death certificate was filled out by a physician who didn't know him in detail, but did know why he recently was treated in our department. The cause of death was listed as head and neck cancer. It wasn't long after his death before we began to receive those notorious "requests for additional information," letters from the statistical office of a well-known cooperative group. Mr. B., as it turns out, was on a clinical trial, and it was "vital" to know further details of the circumstances of his passing. Perhaps this very large cancer had been controlled and Mr. B. succumbed to old age (helped along by the tobacco industry). On the other hand, maybe the residual "fibrosis" in his neck was actually packed with active tumor and his left carotid artery was finally 100% pinched off, or maybe he suffered a massive pulmonary embolism from cancer-related hypercoagulability. The forms and requests were completed with a succinct "cause of death uncertain," adding, "please have the Study Chairs call to discuss this difficult case." Often clinical reports of outcomes utilize and emphasize the endpoint "disease specific survival" (DSS). Like overall survival (OS), the DSS can be calculated by actuarial methods, with patients who have incomplete follow-up "censored" at the time of last follow-up pending further information. In the DSS, however, deaths unrelated to the index cancer of interest are censored at the time of death; thus, a death from intercurrent disease is considered a "success" (to the investigator, that is; obviously, not to the patient and his or her family). The DSS rate will always be superior to the OS rate. Obviously, for any OS curve, if one waits long enough it will ultimately come to zero. There is thus a very logical rationale for reporting the DSS separately, particularly in diseases where death from intercurrent disease is expected to be common. Analyzing the DSS allows researchers to better compare the biologic efficacy of two or more cancer treatments, since it does not necessarily come to zero. Unlike some other endpoints, including local-regional control or freedom from progression, it takes into account the possibility of salvage therapy. DSS also focuses on an endpoint of interest to the public-death from cancer. In a recent popular media survey in which people were asked how they would choose to die if they could, 0% selected cancer. However, there are two serious potential problems with heavy dependence on the DSS. First, since patients who die from intercurrent disease are considered "cured," it seriously inflates the apparent effectiveness of a cancer treatment. Given the same biologic disease and the same treatment, the DSS as calculated in an old, sick population at high risk of intercurrent death will be better than the DSS in a younger, healthier population whose major risk is from their cancer. This problem has been discussed with respect to early stage prostate cancer, in which the conservative approach of observation has been criticized. The studies at issue rely heavily on the DSS, suggesting a comparable DSS (90% at 10 years) with "watchful waiting" to other researchers' results with aggressive therapy. The problem is that these series of conservative management focus on a patient population (as opposed to individuals) with a high risk of competing causes of mortality, which is very different from the population of patients generally treated with aggressive therapy (in which some have shown overall survivals superior to age-matched controls). It is fallacious and illogical to compare nonrandomized series of observation to those of aggressive therapy. In addition to the above problem, the use of DSS introduces another potential issue which we will call the bias of cause-of-death-interpretation. All statistical endpoints (e.g., response rates, local-regional control, freedom from brain metastases), except OS, are known to depend heavily on the methods used to define the endpoint and are often subject to significant interobserver variability. There is no reason to believe that this problem does not occasionally occur with respect to defining a death as due to the index cancer or to intercurrent disease, even though this issue has been poorly studied. In many oncologic situations-for example, metastatic lung cancer-this form of bias does not exist. In some situations, such as head and neck cancer, this could be an intermediate problem (Was that lethal chest tumor a second primary or a metastasis?.Would the fatal aspiration pneumonia have occurred if he still had a tongue?.And what about Mr. B. described above?). In some situations, particularly relatively "good prognosis" neoplasms, this could be a substantial problem, particularly if the adjudication of whether or not a death is cancer-related is performed solely by researchers who have an "interest" in demonstrating a good DSS. What we are most concerned about with this form of bias relates to recent series on observation, such as in early prostate cancer. It is interesting to note that although only 10% of the "observed" patients die from prostate cancer, many develop distant metastases by 10 years (approximately 40% among patients with intermediate grade tumors). Thus, it is implied that many prostate cancer metastases are usually not of themselves lethal, which is a misconception to anyone experienced in taking care of prostate cancer patients. This is inconsistent with U.S. studies of metastatic prostate cancer in which the median survival is two to three years. It is possible that many deaths attributed to intercurrent disease in "watchful waiting" series were in fact prostate cancer-related, perhaps related to failure to thrive, urosepsis, or pulmonary emboli. We will not know without an independent review of the medical records of individual patients; in some cases, even the most detailed review, sometimes even an autopsy, will not be conclusive. There are only a few data available describing the problems created by cause-of-death-interpretation bias. One small study, presented only in abstract form, assessed the cause of death in 50 randomly selected prostate cancer patients who died. Five experts in prostate cancer were asked to assign the cause of death as due to or not due to prostate cancer. The DSS varied from 21% to 35% among the five reviewers, a relative difference of 66%. Studies of autopsies, which are now rarely done in the U.S., have shown that fatal malignant tumors were occasionally missed by clinicians and-even more sobering-an occasional patient thought to have died from metastatic cancer is found to have no tumor but to have died from a "benign" cause such as TB. One study suggested an error rate of approximately 8%. Clearly the use of DSS is here to stay and is a useful adjunct to OS in analyzing randomized trials. There needs to be more research on the validity and interobserver reproducibility of the DSS. In the meantime, researchers should not report DSS without reporting OS and the reasons for intercurrent deaths should be described-peer reviewers should enforce this. As with so many other problems with statistics in the medical literature, it is the job of the reader to remain skeptical. The rate of intercurrent deaths in a study should reflect the age and demographics of the study population. If the DSS is far superior to the OS, the population being studied may be unusually sick (and thus unrealistic), or there may be a bias in classifying the causes of death. Similarly, if the DSS and OS are identical (unless a highly virulent malignancy is being studied), it may suggest the researchers have only included an unusually healthy (and thus unrealistic) patient population. Finally, we would also be a bit suspicious of a sizeable series that did not have any deaths that were considered of "uncertain" cause, unless the researchers specifically included them as being due to the cancer. We honestly think that everybody has a few patients like Mr. B.}, } @article {pmid9988590, year = {1998}, author = {Bulmer, M}, title = {Galton's law of ancestral heredity.}, journal = {Heredity}, volume = {81 (Pt 5)}, number = {}, pages = {579-585}, doi = {10.1046/j.1365-2540.1998.00418.x}, pmid = {9988590}, issn = {0018-067X}, mesh = {Animals ; England ; Genetics/history ; *Genetics, Medical/history ; *Genomic Imprinting ; History, 19th Century ; Humans ; *Models, Genetic ; Models, Statistical ; Regression Analysis ; }, abstract = {Galton's ancestral law states that the two parent contribute between them on average one-half of the total heritage of the offspring, the four grandparents one-quarter, and so on. He interpreted this law both as a representation of the separate contributions of each ancestor to the heritage of the offspring and as a multiple regression formula for predicting the value of a trait from ancestral values. Logical reconstruction of the law is presented based on formalizing Galton's model of heredity outlined in Natural Inheritance (Galton, 1889). The resulting law has a free parameter to be empirically estimated which represents the frequency of latent hereditary elements that are not expressed in a particular individual but are capable of transmission to the next generation. The equation representing ancestral contributions to the heritage of the offspring differs from the multiple regression equation for predicting the value of a trait from ancestral values. The former equation reduces to Galton's ancestral law when the proportion of latent elements is 0.5, the latter when this proportion 0.6. Galton's rather different derivations of the law in 1885 and 1897 are described, and their shortcomings are discussed in the light of these results (Galton, 1885, 1897).}, } @article {pmid20135857, year = {1999}, author = {Orel, V}, title = {[The rediscovery of a scientific animal breeding school in the context of the origin and acceptance of Mendel's discovery].}, journal = {DVT, Dejiny ved a techniky}, volume = {32}, number = {2}, pages = {57-70}, pmid = {20135857}, issn = {0300-4414}, mesh = {Animals ; Animals, Domestic ; *Breeding/economics/history ; Czechoslovakia/ethnology ; *Genetics/education/history ; History, 19th Century ; History, 20th Century ; *Science/economics/education/history ; *Sheep ; }, } @article {pmid9761389, year = {1998}, author = {Chudley, AE}, title = {Genetic landmarks through philately--Gregor Johann Mendel (1822-1884).}, journal = {Clinical genetics}, volume = {54}, number = {2}, pages = {121-123}, doi = {10.1111/j.1399-0004.1998.tb03713.x}, pmid = {9761389}, issn = {0009-9163}, mesh = {Czech Republic ; Genetics/*history ; History, 19th Century ; Humans ; Male ; *Philately ; }, } @article {pmid9598671, year = {1998}, author = {Haas, LF}, title = {Gregor Johann Mendel (1822-84).}, journal = {Journal of neurology, neurosurgery, and psychiatry}, volume = {64}, number = {5}, pages = {587}, doi = {10.1136/jnnp.64.5.587}, pmid = {9598671}, issn = {0022-3050}, mesh = {Austria ; Genetics/history ; History, 19th Century ; *Philately ; }, } @article {pmid9429197, year = {1997}, author = {Galton, DJ and Galton, CJ}, title = {Francis Galton: his approach to polygenic disease.}, journal = {Journal of the Royal College of Physicians of London}, volume = {31}, number = {5}, pages = {570-573}, pmid = {9429197}, issn = {0035-8819}, mesh = {England ; Genetic Diseases, Inborn/genetics/history ; Genetics, Medical/*history/statistics & numerical data ; History, 19th Century ; Humans ; Twin Studies as Topic/history ; }, abstract = {Gregor Mendel is considered to be the founding father of modern genetics, and his laws of inheritance have led to the successful analysis of rare monogenic diseases such as cystic fibrosis, Duchenne muscular dystrophy, familial hypercholesterolaemia, and many others. Francis Galton chose multifactorial inheritance as his starting point, and his methods of analysis have withstood the test of time. He used detailed family records to study the inherited tendency of complex traits between parents and offspring, and between identical and non-identical twins to refine the analysis, and devised new statistics to attempt to measure the extent of inheritance. For all these reasons, he can be considered the founding father of quantitative genetics.}, } @article {pmid9350124, year = {1997}, author = {Corwin, RD}, title = {Point of view: from Gregor Mendel to coronary atherosclerosis.}, journal = {Medicine and health, Rhode Island}, volume = {80}, number = {10}, pages = {348-350}, pmid = {9350124}, issn = {1086-5462}, mesh = {Coronary Artery Disease/*genetics/*history ; History, 19th Century ; Humans ; }, } @article {pmid9238076, year = {1997}, author = {Martin, DN and Proebsting, WM and Hedden, P}, title = {Mendel's dwarfing gene: cDNAs from the Le alleles and function of the expressed proteins.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {94}, number = {16}, pages = {8907-8911}, pmid = {9238076}, issn = {0027-8424}, mesh = {*Alleles ; Amino Acid Sequence ; Cloning, Molecular ; DNA, Complementary/analysis/genetics ; *Genes, Plant ; Gibberellins/*genetics ; Molecular Sequence Data ; Peas/*genetics ; Plant Proteins/*genetics ; Sequence Alignment ; Sequence Analysis ; }, abstract = {The major gibberellin (GA) controlling stem elongation in pea (Pisum sativum L.) is GA1, which is formed from GA20 by 3beta-hydroxylation. This step, which limits GA1 biosynthesis in pea, is controlled by the Le locus, one of the original Mendelian loci. Mutations in this locus result in dwarfism. We have isolated cDNAs encoding a GA 3beta-hydroxylase from lines of pea carrying the Le, le, le-3, and led alleles. The cDNA sequences from le and le-3 each contain a base substitution resulting in single amino acid changes relative to the sequence from Le. The cDNA sequence from led, a mutant derived from an le line, contains both the le "mutation" and a single-base deletion, which causes a shift in reading frame and presumably a null mutation. cDNAs from each line were expressed in Escherichia coli. The expression product for the clone from Le converted GA9 to GA4, and GA20 to GA1, with Km values of 1.5 microM and 13 microM, respectively. The amino acid substitution in the clone from le increased Km for GA9 100-fold and reduced conversion of GA20 to almost nil. Expression products from le and le-3 possessed similar levels of 3beta-hydroxylase activity, and the expression product from led was inactive. Our results suggest that the 3beta-hydroxylase cDNA is encoded by Le. Le transcript is expressed in roots, shoots, and cotyledons of germinating pea seedlings, in internodes and leaves of established seedlings, and in developing seeds.}, } @article {pmid9286112, year = {1997}, author = {Lester, DR and Ross, JJ and Davies, PJ and Reid, JB}, title = {Mendel's stem length gene (Le) encodes a gibberellin 3 beta-hydroxylase.}, journal = {The Plant cell}, volume = {9}, number = {8}, pages = {1435-1443}, pmid = {9286112}, issn = {1040-4651}, mesh = {Amino Acid Sequence ; Arabidopsis/enzymology/genetics ; Base Sequence ; Chromosome Mapping ; Cloning, Molecular ; DNA Primers/genetics ; DNA, Complementary/genetics ; DNA, Plant/genetics ; Escherichia coli/genetics ; *Genes, Plant ; Genetic Linkage ; Mixed Function Oxygenases/*genetics/metabolism ; Molecular Sequence Data ; Open Reading Frames ; Peas/*enzymology/*genetics/growth & development ; Polymerase Chain Reaction ; Polymorphism, Restriction Fragment Length ; Recombinant Proteins/genetics/metabolism ; Sequence Homology, Amino Acid ; }, abstract = {We describe the isolation of the Le gene of pea, which controls internode elongation and originally was described by Mendel. Heterologous screening of a pea cDNA library yielded a partial clone that was 61% identical to coding regions of the putative Arabidopsis gibberellin 3 beta-hydroxylase gene, GA4. DNA gel blot analysis with this cDNA revealed a HindIII restriction fragment length polymorphism between pea isolines differing at Mendel's Le locus. Genomic clones of the GA4-related gene were isolated from the Le and le isolines. Polymerase chain reaction combined with restriction fragment length polymorphism analysis were used to show that the gene mapped to the Le locus. A cDNA containing a complete open reading frame of the pea GA4-related gene was amplified by polymerase chain reaction from each isoline. Recombinant expression in Escherichia coli demonstrated that the product of the Le cDNA was a gibberellin 3 beta-hydroxylase that is able to convert GA20 to the bioactive GA1. Substantially reduced levels of gibberellin 3 beta-hydroxylase activity were measured, after expression of the le cDNA, by using identical methods. This reduced activity was associated with an alanine-to-threonine substitution in the predicted amino acid sequence of the enzyme near its proposed active site.}, } @article {pmid9149386, year = {1997}, author = {Tucker, WH}, title = {Re-reconsidering Burt: beyond a reasonable doubt.}, journal = {Journal of the history of the behavioral sciences}, volume = {33}, number = {2}, pages = {145-162}, doi = {10.1002/(sici)1520-6696(199721)33:2<145::aid-jhbs6>3.0.co;2-s}, pmid = {9149386}, issn = {0022-5061}, mesh = {History, 20th Century ; Humans ; Intelligence ; Intelligence Tests/history ; Psychology, Educational/*history ; Scientific Misconduct/*history ; Social Class ; Twin Studies as Topic/*history ; United Kingdom ; }, abstract = {The Burt controversy has taken a number of strange twists and turns, leading many observers to conclude that he has been exonerated of the accusation that he fabricated his data on monozygotic twins reared apart. A comparison of his twin sample with that from other well documented studies, however, leaves little doubt that he committed fraud.}, } @article {pmid9745372, year = {1997}, author = {Orel, V}, title = {The spectre of inbreeding in the early investigation of heredity.}, journal = {History and philosophy of the life sciences}, volume = {19}, number = {3}, pages = {315-330}, pmid = {9745372}, issn = {0391-9714}, mesh = {Animals ; Europe ; Genetics/*history ; History, 18th Century ; History, 19th Century ; History, 20th Century ; Humans ; *Inbreeding ; Sheep ; }, abstract = {Inbreeding introduced by R. Bakewell (1725-1795) in England for creating new animal races, was opposed by animal breeders on the Continent on religious grounds, and was soon introduced in sheep breeding for wool production in Moravia. In 1790-1840 the protagonists repeatedly rejected 'the spectre of inbreeding' and included consanguineous matching in scientific breeding. In 1836 they even formulated the research question of heredity and next year proposed the inductive method for its investigation. The achievements of sheep breeders instigated German breeders to reject the dogma of the constancy of race and to elaborate the theory of individual potency. Treating heredity as the force under the influence of environment they could not solve the enigma. The question formulated in 1836 was explained in 1865 by Gregor Mendel. His theory was not perceived by animal breeders as well as by biologists up to the end of the century.}, } @article {pmid9463066, year = {1997}, author = {Kempthorne, O}, title = {Heritability: uses and abuses.}, journal = {Genetica}, volume = {99}, number = {2-3}, pages = {109-112}, doi = {10.1007/BF02259514}, pmid = {9463066}, issn = {0016-6707}, mesh = {Animal Husbandry/history ; Animals ; Eugenics/*history ; Female ; Genetics/*history ; Genetics, Medical/history ; History, 19th Century ; History, 20th Century ; Humans ; Intelligence/genetics ; Male ; Models, Genetic ; Plants/genetics ; }, abstract = {This paper begins with a brief summary of the history of the development of ideas in the field of quantitative genetics. Next there is discussion of the controversy surrounding the contention that IQ tests validly estimate some highly heritable general intelligence factor. The validity of the reasoning supporting this contention is questioned. The theory of correlation between relatives has been of vast importance in plant and animal breeding because it is possible to design and carry out experiments to estimate variance components in expressions for covariances between relatives. However, data on humans is observational and individuals are not randomly assigned to environments, so that estimation of heritability from such data is not on the same firm foundation as it is in plant and animal breeding contexts.}, } @article {pmid8944153, year = {1996}, author = {Porteous, JW}, title = {Dominance--one hundred and fifteen years after Mendel's paper.}, journal = {Journal of theoretical biology}, volume = {182}, number = {3}, pages = {223-232}, doi = {10.1006/jtbi.1996.0159}, pmid = {8944153}, issn = {0022-5193}, mesh = {Animals ; *Genes, Dominant ; History, 19th Century ; History, 20th Century ; Metabolism/*genetics ; }, abstract = {In The Molecular Basis of Dominance, Kacser & Burns (1981) demonstrated that dominance in diploids and polyploids, and pleiotropy in all organisms, were biochemical phenomena; they were the consequences of the response of a metabolic system to a genetically specified change in the activity of any one enzyme within the system. Epistasis was similarly explicable when each of at least two enzyme activities suffered a change. The significance of this achievement by Kacser & Burns (1981) for biochemistry, genetics, molecular biology, medicine and bio-technology is best seen against the background of 115 years of attempts to explain the origins of dominance.}, } @article {pmid8555839, year = {1995}, author = {Edouard, L}, title = {Scientific and letter fraud in the Victorian era.}, journal = {BMJ (Clinical research ed.)}, volume = {311}, number = {7020}, pages = {1644}, pmid = {8555839}, issn = {0959-8138}, mesh = {History, 19th Century ; Humans ; Scientific Misconduct/*history ; United Kingdom ; }, } @article {pmid11609021, year = {1995}, author = {Stamhuis, IH}, title = {A female contribution to early genetics: Tine Tammes and Mendel's laws for continuous characters.}, journal = {Journal of the history of biology}, volume = {28}, number = {3}, pages = {495-531}, doi = {10.1007/BF01059390}, pmid = {11609021}, issn = {0022-5010}, mesh = {Genetics/*history ; History, 19th Century ; History, 20th Century ; Humans ; Netherlands ; Women/*history ; }, } @article {pmid7475081, year = {1995}, author = {Frank, SA}, title = {George Price's contributions to evolutionary genetics.}, journal = {Journal of theoretical biology}, volume = {175}, number = {3}, pages = {373-388}, doi = {10.1006/jtbi.1995.0148}, pmid = {7475081}, issn = {0022-5193}, mesh = {Animals ; *Biological Evolution ; Game Theory ; Genetic Variation ; History, 20th Century ; *Models, Genetic ; Selection, Genetic ; United States ; }, abstract = {George Price studied evolutionary genetics for approximately seven years between 1967 and 1974. During that brief period Price made three lasting contributions to evolutionary theory; these were: (i) the Price Equation, a profound insight into the nature of selection and the basis for the modern theories of kin and group selection; (ii) the theory of games and animal behavior, based on the concept of the evolutionarily stable strategy; and (iii) the modern interpretation of Fisher's fundamental theorem of natural selection, Fisher's theorem being perhaps the most cited and least understood idea in the history of evolutionary genetics. This paper summarizes Price's contributions and briefly outlines why, toward the end of his painful intellectual journey, he chose to focus his deep humanistic feelings and sharp, analytical mind on abstract problems in evolutionary theory.}, } @article {pmid7715413, year = {1994}, author = {Trgovcević, Z}, title = {[50 years of molecular biology].}, journal = {Lijecnicki vjesnik}, volume = {116}, number = {11-12}, pages = {315-318}, pmid = {7715413}, issn = {0024-3477}, mesh = {History, 20th Century ; Molecular Biology/*history ; }, abstract = {In 1865, Johann Gregor Mendel laid the mathematical foundation of the science of genetics. His "elements of heredity" (later called genes) were postulated as pure algebraic units. At about the same time (1868), Friedrich Miescher extracted a gelationous substance from the nuclei of white blood cells found in pus. This substance was called nuclein; later it became known as nucleic acid. Fifty years ago, Oswald T. Avery and his colleagues showed that one type of nucleic acid--DNA mediates genetic transformation in pneumococci. This was the first demonstration that Miescher's nuclein is the repository of Mendel's hypothetical elements of heredity. The genes thus "materialized". Although not recognized by contemporaries, Avery's discovery may be considered as a landmark in the history of biology. The molecular era of genetics and biology has begun. Other events associated with the beginning of this new era (bacteriophage research, work on nutritional mutants in Neurospora) are also described in the present review.}, } @article {pmid8047737, year = {1994}, author = {Senn, S and Richardson, W}, title = {The first t-test.}, journal = {Statistics in medicine}, volume = {13}, number = {8}, pages = {785-803}, doi = {10.1002/sim.4780130802}, pmid = {8047737}, issn = {0277-6715}, mesh = {Animals ; Atropine/*history ; Clinical Trials as Topic/*history ; *Data Interpretation, Statistical ; History, 19th Century ; History, 20th Century ; Humans ; Michigan ; Sleep/drug effects ; Statistics as Topic/*history ; Stereoisomerism ; }, abstract = {The data with which Student illustrated the application of his famous distribution are examined from a number of aspects. Central to the discussion is the within-patient clinical trial at Kalamazoo whose results were published by Cushny and Peebles and misquoted by Student and Fisher. This trial is discussed from historical, pharmacological and statistical perspectives. Student's and Fisher's analyses and a more modern analysis by Preece are considered as is Cushny's and Peebles's interpretation. Brief biographies of the five physicians involved in running the trial are presented.}, } @article {pmid8189846, year = {1994}, author = {Gustavson, KH}, title = {[Mendel reconsidered?].}, journal = {Lakartidningen}, volume = {91}, number = {12}, pages = {1181-3, 1186-7}, pmid = {8189846}, issn = {0023-7205}, mesh = {Animals ; Austria ; Chromosome Aberrations ; Genetic Techniques/history ; Genetics/*history ; Genome, Human ; History, 19th Century ; History, 20th Century ; Humans ; Molecular Biology/history ; }, } @article {pmid11640025, year = {1994}, author = {Czihak, G and Rassem, T}, title = {Dawn of human genetics.}, journal = {NTM}, volume = {2}, number = {3}, pages = {175-182}, pmid = {11640025}, issn = {0036-6978}, mesh = {Europe ; Genetics/*history ; History, 19th Century ; Humans ; }, abstract = {Several physicians of the 19th century had a fair knowledge of the transmission of some human hereditary traits. Critical examination of pedigrees culminated in formulation of a "law of heredity" (!) before the rediscovery of Mendel's classical paper in 1900.}, } @article {pmid8239698, year = {1993}, author = {Goldsmith, LA}, title = {Mendelism in early 20th-century American dermatology.}, journal = {Archives of dermatology}, volume = {129}, number = {11}, pages = {1405-1408}, pmid = {8239698}, issn = {0003-987X}, mesh = {Dermatology/*history ; Genetics/*history ; Germany ; History, 19th Century ; History, 20th Century ; Humans ; Molecular Biology/history ; Periodicals as Topic ; Textbooks as Topic ; United States ; Writing ; }, abstract = {Now, almost a century ago since Mendel's work was rediscovered, is a propitious time to review the appearance of mendelian concepts in American dermatology. In our world of instantaneous and sometimes overwhelming dissemination of new information and the apparent rapid incorporation of new knowledge into our specialty, it is useful to examine how heredity was incorporated in the dermatologic literature in the first 25 years of the 20th century. The dermatologic literature serves as a surrogate for the thought of the era.}, } @article {pmid8484417, year = {1993}, author = {Naegeli, W and Wiedemann, HR}, title = {Charles Darwin and other great men in correspondence with Carl Wilhelm von Naegeli.}, journal = {American journal of medical genetics}, volume = {46}, number = {2}, pages = {236-243}, doi = {10.1002/ajmg.1320460227}, pmid = {8484417}, issn = {0148-7299}, mesh = {Botany/history ; Correspondence as Topic/*history ; Genetics/*history ; Germany ; History, 19th Century ; Switzerland ; }, abstract = {The great Swiss-German botanist Carl Wilhelm von Naegeli (1817-1891) was a student of Lorenz Oken, A.P. de Candolle, and Matthias Jacob Schleiden and became a key figure in "genetic" (i.e., evolutionary-developmental) biology in the mid-late 19th century. He was an expert on the hawk-weed, Hieracium and also made important contributions to microbiology. One of his many outstanding students was Carl Correns, one of the 3 rediscoverers of Mendel's work. Naegeli was an early proponent and defender of Darwin. The correspondence preserved in the Naegeli family contains many important letters between Naegeli and his contemporaries. Those from Mendel to Naegeli have passed out of the Naegeli family and were published by Correns earlier in the century. However, exceptionally notable items still in the archives of the Naegeli family include 4 surviving letters from Darwin, 2 letters from Virchow, and 10 from Justus von Liebig. In spite of a lack of appreciation of Mendel's work, we call attention to the importance of those surviving documents from an era in which very few of the greatest naturalists and founders of modern biology--including Goethe, Darwin, Galton, Agassiz, von Humboldt, von Baer--were without "blind spots."}, } @article {pmid8438162, year = {1993}, author = {Anderson, C}, title = {Pasteur notebooks reveal deception.}, journal = {Science (New York, N.Y.)}, volume = {259}, number = {5098}, pages = {1117}, pmid = {8438162}, issn = {0036-8075}, mesh = {Animals ; Anthrax/prevention & control ; Bacterial Vaccines/administration & dosage ; Child ; France ; History, 19th Century ; Humans ; Male ; Rabies/prevention & control ; Rabies Vaccines/administration & dosage ; Scientific Misconduct/*history ; Sheep ; }, } @article {pmid11619473, year = {1993}, author = {Orel, V}, title = {The implausibility of Mendel's theory before 1900.}, journal = {Folia mendeliana}, volume = {28-29}, number = {}, pages = {41-47}, pmid = {11619473}, issn = {0085-0748}, mesh = {Austria ; Europe ; Genetics/*history ; History, 19th Century ; }, abstract = {Attention is paid to the category of the plausibility of Mendel's terminology in formulating the research problem, in describing experimental model and research method and in explaining his theory in the historical context of the long lasting enigma of generation, hybridization and heredity. The new research problem of heredity derived from the enigma of generation was plausible for the sheep breeders in Brno in 1836-1837 who also formulated the research question: what and how is inherited? But they did not find an approach to the experimental investigation. Later in 1852 the research problem of heredity was formulated by the physiologist of the Göttingen University, R. Wagner, who also outlined the method of crossing animals or artifical fertilization of plants for the investigation of the enigma of generation and heredity. But he could not carry out the recommended experiments at the University. His proposal remained without echo. Mendel first mentioned the motivation for his research arising from plant breeding experience and then from the experiments with plant crossing by botanists. He delivered his lectures in Brno to the community of naturalists, who paid attention to the appearance of hybrids in nature, but were not interested in plant breeding. After describing research model and experimental method Mendel presented the sequence of hypotheses proved in experiments and explained the origin and development of hybrids and at the same time also the mechanism of fertilization and of transmission of traits, what was heredity without using the term. The listeners of his lectures and later the readers of his paper did not understand his explanation. ...}, } @article {pmid8119595, year = {1993}, author = {McCann, DA and Batterham, P}, title = {Australian genetics: a brief history.}, journal = {Genetica}, volume = {90}, number = {2-3}, pages = {81-114}, pmid = {8119595}, issn = {0016-6707}, mesh = {Animals ; Australia ; Breeding/history ; Genetics/education/*history ; History, 19th Century ; History, 20th Century ; Humans ; Plants/genetics ; Schools/history ; }, abstract = {Although Australia has a productive history in plant and animal breeding, fundamental genetics was late in becoming established. Before the 1950s there was no separate department of genetics in any university in the country. Reasons for the delay include geographical isolation, Australian and British colonial science policy, and the lack of a 'critical mass' of researchers. Through the efforts of Ian Clunies Ross and the CSIR several prominent scientists were induced to come from overseas to set up the framework for an Australian-based genetics community. Since that time fundamental genetics in Australia has flourished with high quality graduates in genetics being produced at a number of universities, and many local research programs being initiated. This period has seen the gradual internationalization of Australian genetics and increased collaboration with overseas researchers taking place. This paper provides an historical overview of the origins and progress of genetics in Australia beginning with plant breeding in the first decades of this century to the present era of molecular genetics. Significant personalities, institutions, policies, reports and publications are discussed in order to make sense of the current structures.}, } @article {pmid1425288, year = {1992}, author = {Riedel, M}, title = {[Johann Gregor Mendel].}, journal = {Deutsche medizinische Wochenschrift (1946)}, volume = {117}, number = {45}, pages = {1737-1738}, pmid = {1425288}, issn = {0012-0472}, mesh = {Austria ; Genetics/history ; History, 19th Century ; }, } @article {pmid1644018, year = {1992}, author = {Kohl, F}, title = {[Of flowering plants and garden peas. The first description of the laws of inheritance by Johann Gregor Mendel].}, journal = {Deutsche medizinische Wochenschrift (1946)}, volume = {117}, number = {31-32}, pages = {1212-1216}, doi = {10.1055/s-0029-1235371}, pmid = {1644018}, issn = {0012-0472}, mesh = {Genetics/*history ; Germany ; History, 19th Century ; Plants/*genetics ; }, } @article {pmid1644269, year = {1992}, author = {Hartl, DL and Orel, V}, title = {What did Gregor Mendel think he discovered?.}, journal = {Genetics}, volume = {131}, number = {2}, pages = {245-253}, doi = {10.1093/genetics/131.2.245}, pmid = {1644269}, issn = {0016-6731}, mesh = {Crosses, Genetic ; Genetics/*history ; Germany ; History, 19th Century ; Hybridization, Genetic ; Plants/genetics ; Scientific Misconduct ; Statistics as Topic ; }, } @article {pmid1544538, year = {1992}, author = {Klotz, IM}, title = {Cooking and trimming by scientific giants.}, journal = {FASEB journal : official publication of the Federation of American Societies for Experimental Biology}, volume = {6}, number = {6}, pages = {2271-2273}, doi = {10.1096/fasebj.6.6.1544538}, pmid = {1544538}, issn = {0892-6638}, mesh = {History, 19th Century ; History, 20th Century ; Philosophy ; *Scientific Misconduct/classification/history ; }, } @article {pmid11612933, year = {1992}, author = {Krook, H}, title = {[Mysteries surrounding Gregor Mendel and his research].}, journal = {Nordisk medicinhistorisk arsbok}, volume = {}, number = {}, pages = {69-82}, pmid = {11612933}, issn = {0303-6480}, mesh = {Austria ; Genetics/*history ; History, Modern 1601- ; }, } @article {pmid1776613, year = {1991}, author = {Clarke, C}, title = {Invited commentary on R. A. Fisher.}, journal = {American journal of epidemiology}, volume = {134}, number = {12}, pages = {1371-1374}, doi = {10.1093/oxfordjournals.aje.a116040}, pmid = {1776613}, issn = {0002-9262}, mesh = {*Data Interpretation, Statistical ; Genes, Dominant ; Genetics/*history ; History, 20th Century ; Humans ; Lung Neoplasms/etiology ; Research Design/standards ; Rh-Hr Blood-Group System/history ; Smoking/adverse effects ; United Kingdom ; }, } @article {pmid1763055, year = {1991}, author = {Orr, HA}, title = {A test of Fisher's theory of dominance.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {88}, number = {24}, pages = {11413-11415}, pmid = {1763055}, issn = {0027-8424}, support = {GM 38462/GM/NIGMS NIH HHS/United States ; }, mesh = {Alleles ; Animals ; *Biological Evolution ; Chlamydomonas reinhardtii/*genetics ; Chromosome Mapping ; *Genes, Dominant ; Genes, Recessive ; *Models, Genetic ; *Mutation ; }, abstract = {One of the first patterns noticed by geneticists was that mutations are almost always recessive to their wild-type alleles. Several explanations of this striking pattern have been offered. The two most influential are Fisher's theory--which argues that dominance results from natural selection against recurring deleterious mutations--and Wright's theory--which argues that dominance results from the physiology of gene action. The debate over which of these theories is correct represents one of the most protracted controversies in the history of evolutionary biology. Here I test Fisher's theory by assessing the dominance of mutations in an organism that is typically haploid, the alga Chlamydomonas reinhardtii. The results show that mutations are recessive just as often among haploid as among diploid species. This result falsifies Fisher's theory of dominance and provides strong support for the alternative physiological theory.}, } @article {pmid1814373, year = {1991}, author = {Crow, JF}, title = {Professor Mukai: the man and his work.}, journal = {Idengaku zasshi}, volume = {66}, number = {6}, pages = {669-682}, doi = {10.1266/jjg.66.669}, pmid = {1814373}, issn = {0021-504X}, mesh = {Animals ; Crosses, Genetic ; Drosophila ; Genes, Dominant ; Genetics/history ; Heterozygote ; History, 20th Century ; Japan ; *Mutation ; Statistics as Topic ; United States ; }, } @article {pmid1743480, year = {1991}, author = {Lederberg, J}, title = {The Gene (H.J. Muller 1947).}, journal = {Genetics}, volume = {129}, number = {2}, pages = {313-316}, doi = {10.1093/genetics/129.2.313}, pmid = {1743480}, issn = {0016-6731}, mesh = {Animals ; *Genes ; Genetics/*history ; History, 20th Century ; Humans ; }, } @article {pmid28564179, year = {1991}, author = {Nordborg, M}, title = {SEX-RATIO SELECTION WITH GENERAL MIGRATION SCHEMES: FISHER'S RESULT DOES HOLD.}, journal = {Evolution; international journal of organic evolution}, volume = {45}, number = {5}, pages = {1289-1293}, doi = {10.1111/j.1558-5646.1991.tb04395.x}, pmid = {28564179}, issn = {1558-5646}, } @article {pmid1887835, year = {1991}, author = {Weiling, F}, title = {Historical study: Johann Gregor Mendel 1822-1884.}, journal = {American journal of medical genetics}, volume = {40}, number = {1}, pages = {1-25; discussion 26}, doi = {10.1002/ajmg.1320400103}, pmid = {1887835}, issn = {0148-7299}, mesh = {Austria ; Genetics/*history ; Germany ; History, 19th Century ; Mathematics/history ; }, abstract = {The life and personality of Johann Gregor Mendel (1822-1884), the founder of scientific genetics, are reviewed against the contemporary background of his times. At the end are weighed the benefits for Mendel (as charged by Sir Ronald Fisher) to have documented his results on hand of falsified data. Mendel was born into a humble farm family in the "Kuhländchen", then a predominantly German area of Northern Moravia. On the basis of great gifts Mendel was able to begin higher studies; however, he found himself in serious financial difficulties because of his father's accident and incapacitation. His hardships engendered illness which threatened continuation and completion of his studies until he was afforded the chance of absolving successfully theological studies as an Augustinian monk in the famous chapter of St. Thomas in Altbrünn (Staré Brno). Psychosomatic indisposition made Mendel unfit for practical pastoral duties. Thus, he was directed to teach but without appropriate state certification; an attempt to pass such an examination failed. At that point he was sent to the University of Vienna for a 2-year course of studies, with emphasis on physics and botany, to prepare him for the exam. His scientific and methodologic training enabled him to plan studies of the laws of inheritance, which had begun to interest him already during his theology training, and to choose the appropriate experimental plant. In 1865, after 12 years of systematic investigations on peas, he presented his results in the famous paper "Versuche über Pflanzenhybriden." Three years after his return from Vienna he failed to attain his teaching certification a second time. Only by virtue of his exceptional qualifications did he continue to function as a Supplementary Professor of Physics and Natural History in the two lowest classes of a secondary school. In 1868 he was elected Abbot of his chapter, and freed from teaching duties, was able to pursue his many scientific interests with greater efficiency. This included meteorology, the measurement of ground water levels, further hybridization in plants (a.o. involving the hawk week Hieracium up to about 1873), vegetable and fruit tree horticulture, apiculture, and agriculture in general. This involved Mendel's active participation in many organizations interested in advancing these fields at a time when appropriate research institutes did not exist in Brünn. Some of the positions he took in his capacity of Abbot had severe repercussions and further taxed Mendel's already over-stressed system. The worst of these was a 10-year confrontation with the government about the taxation of the monastery.(ABSTRACT TRUNCATED AT 400 WORDS)}, } @article {pmid1645639, year = {1991}, author = {Silverman, WA}, title = {Suspended judgment. Is the scientific paper a fraud?.}, journal = {Controlled clinical trials}, volume = {12}, number = {2}, pages = {273-276}, doi = {10.1016/0197-2456(91)90024-g}, pmid = {1645639}, issn = {0197-2456}, mesh = {Bias ; History, 17th Century ; History, 18th Century ; History, 19th Century ; History, 20th Century ; Peer Review/methods ; *Publishing ; Scientific Misconduct/history ; }, } @article {pmid2000852, year = {1991}, author = {Stolley, PD}, title = {When genius errs: R.A. Fisher and the lung cancer controversy.}, journal = {American journal of epidemiology}, volume = {133}, number = {5}, pages = {416-25; discussion 426-8}, doi = {10.1093/oxfordjournals.aje.a115904}, pmid = {2000852}, issn = {0002-9262}, mesh = {England ; Epidemiologic Methods ; History, 20th Century ; Humans ; Lung Neoplasms/epidemiology/*etiology ; Smoking/*adverse effects ; Statistics as Topic/*history ; }, abstract = {R.A. Fisher's work on lung cancer and smoking is critically reviewed. The controversy is placed in the context of his career and personality. Although Fisher made invaluable contributions to the field of statistics, his analysis of the causal association between lung cancer and smoking was flawed by an unwillingness to examine the entire body of data available and prematurely drawn conclusions. His views may also have been influenced by personal and professional conflicts, by his work as a consultant to the tobacco industry, and by the fact that he was himself a smoker.}, } @article {pmid11640034, year = {1991}, author = {Weiling, F}, title = {[Not Available].}, journal = {Folia mendeliana}, volume = {26-27}, number = {}, pages = {17-26}, pmid = {11640034}, issn = {0085-0748}, mesh = {Austria ; Genetics/*history ; History, 19th Century ; Humans ; }, abstract = {Mendel's record from his hybridiizing experiments comprising some calculations pertaining to the final trifactorial cross carried out with Pisum and concerning the varying intensity of the colour of the seedcoat is dated by July 1880 at the earliest. this means Mendel preoccupied himself with his genetical theory till the end of his life.}, } @article {pmid11640033, year = {1991}, author = {Obermajer, J}, title = {Further medals with the portrait of Gregor Mendel.}, journal = {Folia mendeliana}, volume = {26-27}, number = {}, pages = {103-106}, pmid = {11640033}, issn = {0085-0748}, mesh = {Genetics/*history ; History, 20th Century ; Humans ; Numismatics/*history ; Portraits as Topic/*history ; }, abstract = {Four new medals with Mendel's portrait were issued after 1985. Two of them were issued by the Mendelianum in Brno, one comes from the Federal Republic of Germany, and one from Spain.}, } @article {pmid2293400, year = {1990}, author = {Crow, JF}, title = {Fisher's contributions to genetics and evolution.}, journal = {Theoretical population biology}, volume = {38}, number = {3}, pages = {263-275}, doi = {10.1016/0040-5809(90)90013-l}, pmid = {2293400}, issn = {0040-5809}, mesh = {*Biological Evolution ; Genetics, Population/*history ; History, 20th Century ; Humans ; United Kingdom ; }, } @article {pmid2085640, year = {1990}, author = {Piegorsch, WW}, title = {Fisher's contributions to genetics and heredity, with special emphasis on the Gregor Mendel controversy.}, journal = {Biometrics}, volume = {46}, number = {4}, pages = {915-924}, pmid = {2085640}, issn = {0006-341X}, mesh = {Animals ; Genes, Dominant ; Genes, Recessive ; *Genetics/history ; History, 19th Century ; History, 20th Century ; *Models, Genetic ; Plants/genetics ; }, abstract = {R. A. Fisher is widely respected for his contributions to both statistics and genetics. For instance, his 1930 text on The Genetical Theory of Natural Selection remains a watershed contribution in that area. Fisher's subsequent research led him to study the work of (Johann) Gregor Mendel, the 19th century monk who first developed the basic principles of heredity with experiments on garden peas. In examining Mendel's original 1865 article, Fisher noted that the conformity between Mendel's reported and proposed (theoretical) ratios of segregating individuals was unusually good, "too good" perhaps. The resulting controversy as to whether Mendel "cooked" his data for presentation has continued to the current day. This review highlights Fisher's most salient points as regards Mendel's "too good" fit, within the context of Fisher's extensive contributions to the development of genetical and evolutionary theory.}, } @article {pmid2085639, year = {1990}, author = {Thompson, EA}, title = {R.A. Fisher's contributions to genetical statistics.}, journal = {Biometrics}, volume = {46}, number = {4}, pages = {905-914}, pmid = {2085639}, issn = {0006-341X}, mesh = {Animals ; Biometry/*history ; Genetics/*history ; History, 20th Century ; Humans ; }, abstract = {R. A. Fisher (1890-1962) was a professor of genetics, and many of his statistical innovations found expression in the development of methodology in statistical genetics. However, whereas his contributions in mathematical statistics are easily identified, in population genetics he shares his preeminence with Sewall Wright (1889-1988) and J. B. S. Haldane (1892-1965). This paper traces some of Fisher's major contributions to the foundations of statistical genetics, and his interactions with Wright and with Haldane which contributed to the development of the subject. With modern technology, both statistical methodology and genetic data are changing. Nonetheless much of Fisher's work remains relevant, and may even serve as a foundation for future research in the statistical analysis of DNA data. For Fisher's work reflects his view of the role of statistics in scientific inference, expressed in 1949: There is no wide or urgent demand for people who will define methods of proof in set theory in the name of improving mathematical statistics. There is a widespread and urgent demand for mathematicians who understand that branch of mathematics known as theoretical statistics, but who are capable also of recognising situations in the real world to which such mathematics is applicable. In recognising features of the real world to which his models and analyses should be applicable, Fisher laid a lasting foundation for statistical inference in genetic analyses.}, } @article {pmid2195224, year = {1990}, author = {Klein, D}, title = {[Development of genetic research in ophthalmology with special reference to Switzerland].}, journal = {Klinische Monatsblatter fur Augenheilkunde}, volume = {196}, number = {5}, pages = {262-264}, doi = {10.1055/s-2008-1046166}, pmid = {2195224}, issn = {0023-2165}, mesh = {Eye Diseases/*history ; Genetic Diseases, Inborn/*history ; Genetics/*history ; History, 19th Century ; History, 20th Century ; Humans ; Ophthalmology/*history ; Switzerland ; }, abstract = {The relationship between ophthalmology and genetics has always been a very active one, and existed even before Mendel's laws of inheritance were known. The pedigree method in particular yielded satisfactory results even to the first researchers. Later, Helmholtz's invention of the ophthalmoscope (in 1851) and the rediscovery of Mendel's laws of heredity (in 1900) made major contributions to the progress of human genetics in ophthalmology. Credit is due to J. F. Horner of Zurich (1831-1886) for having first established the X-chromosomal inheritance of colorblindness. Subsequently, the development of genetic research was advanced in particular by Alfred Vogt, Professor of Ophthalmology in Zurich (1879-1943) and Adolf Franceschetti in Geneva (1896-1968) and their co-workers. We are indebted to Vogt for the first description of albinismus solum bulbi. Credit is also due to him for having made early diagnosis of myotonic dystrophy (Steinert) possible, a major discovery for genetic counseling. He was the first to detect, by slit-lamp examination, characteristic lens changes in the form of whitish, red, and green opacities in the anterior and posterior subcapsular regions. Franceschetti's achievements include the description of several clinical syndromes, of which mandibulofacial dysostosis has become well known. Among the hereditary retinal dystrophies, he described fundus flavimaculatus (yellowish lesions disseminated in the deeper layers of the posterior pole) as a new entity, attributed to degeneration of the pigment epithelium. In addition to more than 500 articles, he was also co-author, with J. François and J. Babel, of a monumental handbook in two volumes titled Hérédodégénérescences choriorétiniennes (of which an English translation appeared in 1974).(ABSTRACT TRUNCATED AT 250 WORDS)}, } @article {pmid2405276, year = {1990}, author = {Fincham, JR}, title = {Plant genetics: Mendel--now down to the molecular level.}, journal = {Nature}, volume = {343}, number = {6255}, pages = {208-209}, doi = {10.1038/343208a0}, pmid = {2405276}, issn = {0028-0836}, mesh = {Genetics/history ; History, 19th Century ; Plants/*genetics ; Switzerland ; }, } @article {pmid2185862, year = {1990}, author = {Fisher, RA}, title = {On the dominance ratio. 1922.}, journal = {Bulletin of mathematical biology}, volume = {52}, number = {1-2}, pages = {297-318; discussion 201-7}, pmid = {2185862}, issn = {0092-8240}, mesh = {*Genes, Dominant ; History, 20th Century ; Mathematics ; *Models, Genetic ; Mutation ; Plants/genetics ; }, } @article {pmid2092334, year = {1990}, author = {Gaissinovitch, AE}, title = {C.F. Wolff on variability and heredity.}, journal = {History and philosophy of the life sciences}, volume = {12}, number = {2}, pages = {179-201}, pmid = {2092334}, issn = {0391-9714}, mesh = {Animals ; Berlin ; Congenital Abnormalities/embryology/genetics/history ; Embryology/*history ; Genetics/*history ; History, 18th Century ; Humans ; Plants/genetics ; }, abstract = {Based on his published works and on manuscripts that were unpublished during his lifetime, C.F. Wolff's views on variability and heredity are analyzed. Attention is focused on his treatise Objecta meditationum pro theoria monstrorum published in 1973. The findings do not completely coincide with B.E. Rajkov's conclusions as to Wolff's anticipation of some theses of modern genetics and the theory of evolution. In addition, the case for the transformism elements in Wolff's work is argued. Lastly, Wolff's misunderstanding of inheritance phenomena is attributed to his erroneous idea of the essence of sexual reproduction.}, } @article {pmid2081247, year = {1990}, author = {Vandenbroucke, JP}, title = {How trustworthy is epidemiologic research?.}, journal = {Epidemiology (Cambridge, Mass.)}, volume = {1}, number = {1}, pages = {83-84}, doi = {10.1097/00001648-199001000-00018}, pmid = {2081247}, issn = {1044-3983}, mesh = {*Data Interpretation, Statistical ; Epidemiologic Methods ; Epidemiology/*standards ; Humans ; Research Design/standards ; Scientific Misconduct/statistics & numerical data/*trends ; }, } @article {pmid3044921, year = {1988}, author = {Roman, H}, title = {A diamond in a desert.}, journal = {Genetics}, volume = {119}, number = {4}, pages = {739-741}, doi = {10.1093/genetics/119.4.739}, pmid = {3044921}, issn = {0016-6731}, mesh = {*Genes ; Genetics/*history ; History, 20th Century ; Mutation/radiation effects ; Ultraviolet Rays ; }, } @article {pmid9899194, year = {1987}, author = {Rzoska, SJ and Chrapec, J and Ziolo, J}, title = {Fisher's renormalization for the nonlinear dielectric effect from isothermal measurements.}, journal = {Physical review. A, General physics}, volume = {36}, number = {6}, pages = {2885-2889}, doi = {10.1103/physreva.36.2885}, pmid = {9899194}, issn = {0556-2791}, } @article {pmid3319942, year = {1987}, author = {Churchill, FB}, title = {From heredity theory to Vererbung. The transmission problem, 1850-1915.}, journal = {Isis; an international review devoted to the history of science and its cultural influences}, volume = {78}, number = {293}, pages = {337-364}, doi = {10.1086/354472}, pmid = {3319942}, issn = {0021-1753}, mesh = {Animals ; Cell Nucleus ; Genetics/*history ; Germ Cells ; Growth ; History, 19th Century ; History, 20th Century ; Humans ; Reproduction ; }, } @article {pmid3305693, year = {1987}, author = {Corcos, AF and Monaghan, FV}, title = {Role of de Vries in the rediscovery of Mendel's paper. II. Did de Vries really understand Mendel's paper?.}, journal = {The Journal of heredity}, volume = {78}, number = {4}, pages = {275-276}, doi = {10.1093/oxfordjournals.jhered.a110383}, pmid = {3305693}, issn = {0022-1503}, mesh = {France ; Genetics/*history ; History, 19th Century ; History, 20th Century ; Models, Genetic ; }, abstract = {In this paper, we discuss briefly three of the several lines of evidence that we believe demonstrate de Vries's lack of understanding of Mendel's paper. In our view, at least part of de Vries's failure of understanding derives from the fact that he appears to have viewed Mendel's paper as being mainly about the inheritance of characters that was his own interest. Therefore, he looked at it to see whether Mendel had found any laws of inheritance. Mendel had done his research for another purpose, to find the laws describing the formation of hybrids and the development of their offspring. Thus, de Vries started his examination of Mendel's paper with a very fundamental misunderstanding of what it was about.}, } @article {pmid3302014, year = {1987}, author = {Monaghan, FV and Corcos, AF}, title = {Tschermak: a non-discoverer of mendelism. II. A critique.}, journal = {The Journal of heredity}, volume = {78}, number = {3}, pages = {208-210}, doi = {10.1093/oxfordjournals.jhered.a110361}, pmid = {3302014}, issn = {0022-1503}, mesh = {Crosses, Genetic ; Fabaceae/genetics ; Genes, Dominant ; Genes, Recessive ; Genetics/*history ; Genotype ; Germany ; History, 19th Century ; History, 20th Century ; Phenotype ; Plants, Medicinal ; }, abstract = {An examination of Tschermak's two papers of 1900 not only reinforces our conclusion cited in our first paper on Tschermak that he was not a rediscoverer of Mendelism, but also he did not understand Mendel when he had read it. His concept of dominance differed from that of Mendel, and his use of his own concept is inconsistent and contradictory. His discussion of his backcross data indicated that he had no idea of the nature of Mendelian ratios. Nowhere did he develop the ideas of segregation and independent assortment.}, } @article {pmid3550474, year = {1987}, author = {Edwards, AW}, title = {Defending Mendel merely perpetuating a myth.}, journal = {Nature}, volume = {326}, number = {6112}, pages = {449}, doi = {10.1038/326449a0}, pmid = {3550474}, issn = {0028-0836}, mesh = {Fraud ; Genetics/*history ; History, 19th Century ; Research ; }, } @article {pmid3295022, year = {1987}, author = {Monaghan, FV and Corcos, AF}, title = {Reexamination of the fate of Mendel's paper.}, journal = {The Journal of heredity}, volume = {78}, number = {2}, pages = {116-118}, doi = {10.1093/oxfordjournals.jhered.a110328}, pmid = {3295022}, issn = {0022-1503}, mesh = {Austria ; Genetics/*history ; History, 19th Century ; History, 20th Century ; Plants/genetics ; }, abstract = {The usual account is that when Mendel gave his paper, no one understood what he said and there were no questions and no discussion. Examination of available evidence indicates that this is not true. Also, it is usually said that Mendel's paper was lost or ignored from 1866 to 1900. This is not true either. However, with the possible exception of one person, none of those citing the paper showed any interest in or understanding of Mendel's explanations of his results.}, } @article {pmid28563754, year = {1987}, author = {Kirkpatrick, M and Bull, JJ}, title = {SEX-RATIO SELECTION WITH MIGRATION: DOES FISHER'S RESULT HOLD?.}, journal = {Evolution; international journal of organic evolution}, volume = {41}, number = {1}, pages = {218-221}, doi = {10.1111/j.1558-5646.1987.tb05784.x}, pmid = {28563754}, issn = {1558-5646}, } @article {pmid3323137, year = {1987}, author = {Voipio, P}, title = {What did Mendel say about evolution?.}, journal = {Hereditas}, volume = {107}, number = {1}, pages = {103-105}, doi = {10.1111/j.1601-5223.1987.tb00273.x}, pmid = {3323137}, issn = {0018-0661}, mesh = {*Biological Evolution ; England ; Genetics/*history ; Germany ; History, 19th Century ; }, } @article {pmid3542070, year = {1986}, author = {Edwards, AW}, title = {Are Mendel's results really too close?.}, journal = {Biological reviews of the Cambridge Philosophical Society}, volume = {61}, number = {4}, pages = {295-312}, doi = {10.1111/j.1469-185x.1986.tb00656.x}, pmid = {3542070}, issn = {1464-7931}, mesh = {Genetics/*history ; History, 19th Century ; History, 20th Century ; Plants/*genetics ; Probability ; *Statistics as Topic ; }, } @article {pmid3531317, year = {1986}, author = {Weiling, F}, title = {What about R.A. Fisher's statement of the "too good" data of J.G. Mendel's Pisum paper?.}, journal = {The Journal of heredity}, volume = {77}, number = {4}, pages = {281-283}, doi = {10.1093/oxfordjournals.jhered.a110239}, pmid = {3531317}, issn = {0022-1503}, mesh = {Genetic Variation ; *Genetics, Population ; History, 19th Century ; Plants/*genetics ; }, abstract = {Mendel was accused by Fisher that his observed data, which corresponded to expectations, were too good to be true, and, further, that Mendel, growing only 10 plants per offspring, disregarded in his genotypical analysis the loss of recessives by assuming a ratio of 1:2 instead of 1.1126:1.8874. In contrast, it is proposed here that all chi-square statistics of genetic segregations fall short because the variance of genetic segregations is smaller and not of a binomial type as assumed. Furthermore, this variance and the corresponding chi-square statistics are not homogeneous in different segregation types. Consequently, it is not possible to summarize the different chi-square statistics as Fisher did. It is only in this way that he was able to obtain his unrealistic result (a probability of "seven times in 100,000 cases"). Regarding Fisher's second accusation, it should be taken into account that Mendel selected his 10 plants from offspring with a finite and not an infinite number of entities. Although this number is different from offspring to offspring, the average number is about 30. This means that the loss of recessives must be calculated by using a hypergeometric and not a binomial model as Fisher did. Consequently, the real deviation from the 1:2 ratio can be disregarded.}, } @article {pmid11611987, year = {1986}, author = {Piegorsch, WW}, title = {The Gregor Mendel controversy: early issues of goodness-of-fit and recent issues of genetic linkage.}, journal = {History of science}, volume = {24}, number = {64 pt 2}, pages = {173-182}, doi = {10.1177/007327538602400204}, pmid = {11611987}, issn = {0073-2753}, mesh = {Austria ; Genetics/*history ; History, Modern 1601- ; }, } @article {pmid3734409, year = {1986}, author = {Pilgrim, I}, title = {A solution to the too-good-to-be-true paradox and Gregor Mendel.}, journal = {The Journal of heredity}, volume = {77}, number = {3}, pages = {218-220}, doi = {10.1093/oxfordjournals.jhered.a110224}, pmid = {3734409}, issn = {0022-1503}, mesh = {Female ; Genetics, Medical ; Humans ; Male ; *Models, Genetic ; Probability ; Sex Ratio ; }, } @article {pmid3902959, year = {1985}, author = {Corcos, A and Monaghan, F}, title = {More about Mendel's experiments: where is the bias?.}, journal = {The Journal of heredity}, volume = {76}, number = {5}, pages = {384}, pmid = {3902959}, issn = {0022-1503}, mesh = {Austria ; Biometry ; *Crosses, Genetic ; Genetics/*history ; History, 19th Century ; Homozygote ; Phenotype ; }, } @article {pmid4031468, year = {1985}, author = {Monaghan, F and Corcos, A}, title = {Chi-square and Mendel's experiments: where's the bias?.}, journal = {The Journal of heredity}, volume = {76}, number = {4}, pages = {307-309}, doi = {10.1093/oxfordjournals.jhered.a110099}, pmid = {4031468}, issn = {0022-1503}, mesh = {Genotype ; Hybridization, Genetic ; *Models, Genetic ; Phenotype ; Plants/*genetics ; }, abstract = {Mendel has been accused of "cooking" his data to meet a particular hypothesis. The earliest time he could have formulated an hypothesis in the course of his experiments was at the end of the second year of experiments 1 and 2. If he knew what to expect as the result of his first two pea-seed experiments, one might expect the chi-square values of subsequent experiments to exhibit a trend toward smaller values. However, when the individual experiments are, each in turn, subjected to a chi-square test, there is no evidence of the expected trend. With few exceptions, the data show no systematic variation in a particular direction. In our view, the suggestion of bias is not supported.}, } @article {pmid3889132, year = {1985}, author = {Corcos, A and Monaghan, F}, title = {Role of de Vries in the recovery of Mendel's work. I. Was de Vries really an independent discoverer of Mendel?.}, journal = {The Journal of heredity}, volume = {76}, number = {3}, pages = {187-190}, doi = {10.1093/oxfordjournals.jhered.a110062}, pmid = {3889132}, issn = {0022-1503}, mesh = {Botany/history ; *Famous Persons ; Genetics/*history ; History, 19th Century ; History, 20th Century ; Humans ; }, abstract = {Recently, doubt has been cast on the view that de Vries developed the idea of disjunction independently of Mendel. Arguments are based on de Vries' own writings that showed the F2 data of his numerous crosses are reported as 3:1 ratios only after 1900. They also show that his theory of inheritance becomes quasi Mendelian only after 1900. The authors of this review paper cannot but agree with de Vries' critics that he did not develop his law of disjunction independently of Mendel. They also raise some questions that, hopefully, will lead to a reanalysis of de Vries' theory of inheritance in 1900.}, } @article {pmid3888763, year = {1985}, author = {Márquez-Montez, H and Salamanca Gómez, F and Urzúa, R and Velázquez, A and Cantú, }, title = {[Centenary of the death of Gregor Mendel].}, journal = {Gaceta medica de Mexico}, volume = {121}, number = {3-4}, pages = {107-134}, pmid = {3888763}, issn = {0016-3813}, mesh = {Austria ; Genetics/history ; History, 19th Century ; }, } @article {pmid22557472, year = {1985}, author = {Sharma, H}, title = {Development of rasasastra in medieval period.}, journal = {Ancient science of life}, volume = {4}, number = {3}, pages = {158-164}, pmid = {22557472}, issn = {0257-7941}, abstract = {The paper deals with the historical development of Rasasastra in Medieval period. Knowledge of Rasa has been in existence from the time immemorial. Exploration of natural resources for the benefit of human beings is the object of this therapy. It is a medical science recognized during vedic periods for the betterment of even Devas. Medieval period can be treated as a golden age for the development of this science. Looking at its aim and objects, methodology and therapeutics, it was recognized as a medical science with an independent philosophical background in 14(th) century, by Madhavacharya in his Sarva Darsana Samgraha.}, } @article {pmid3898613, year = {1985}, author = {Pelz, L}, title = {[Johann Gregor Mendel and medical genetics. A medical history sketch on the occasion of the 100th anniversary of his death 6 January 1984].}, journal = {Zeitschrift fur arztliche Fortbildung}, volume = {79}, number = {12}, pages = {543-546}, pmid = {3898613}, issn = {0044-2178}, mesh = {Austria ; Genetics, Medical/history ; History, 19th Century ; }, } @article {pmid3895281, year = {1985}, author = {Sandler, I and Sandler, L}, title = {A conceptual ambiguity that contributed to the neglect of Mendel's paper.}, journal = {History and philosophy of the life sciences}, volume = {7}, number = {1}, pages = {3-70}, pmid = {3895281}, issn = {0391-9714}, mesh = {Animals ; Austria ; *Biological Evolution ; Breeding/history ; Embryology/history ; Genetics/*history ; History, 19th Century ; Humans ; *Philosophy, Medical ; }, } @article {pmid3884699, year = {1985}, author = {Monaghan, FV and Corcos, AF}, title = {Mendel, the empiricist.}, journal = {The Journal of heredity}, volume = {76}, number = {1}, pages = {49-54}, doi = {10.1093/oxfordjournals.jhered.a110017}, pmid = {3884699}, issn = {0022-1503}, mesh = {Genetics/*history ; History, 19th Century ; }, abstract = {In contemporary texts in biology and genetics, Mendel is frequently portrayed as a theorist who was the father of classical genetics. According to some authors, he created his theory of inheritance to explain the results of his experimental hybridizations of peas. Others have proposed that he designed and carried out his experiments to demonstrate the correctness of a theory of inheritance he had already developed. We disagree strongly with these views of Mendel. Instead, we have come to regard him as an empirical investigator trying to discover the empirical natural laws describing the formation of hybrid peas and the development of their offspring over several generations. We have supported our view with an analysis of portions of Mendel's paper and his letters to Carl N ageli.}, } @article {pmid6392413, year = {1984}, author = {Pilgrim, I}, title = {The too-good-to-be-true paradox and Gregor Mendel.}, journal = {The Journal of heredity}, volume = {75}, number = {6}, pages = {501-502}, doi = {10.1093/oxfordjournals.jhered.a109998}, pmid = {6392413}, issn = {0022-1503}, mesh = {Austria ; Fraud ; Genetics/*history ; History, 19th Century ; Probability ; Research Design ; }, } @article {pmid6392412, year = {1984}, author = {MacRoberts, MH}, title = {L. H. Bailey's citations to Gregor Mendel.}, journal = {The Journal of heredity}, volume = {75}, number = {6}, pages = {500-501}, doi = {10.1093/oxfordjournals.jhered.a109997}, pmid = {6392412}, issn = {0022-1503}, mesh = {Austria ; Genetics/*history ; History, 19th Century ; United States ; }, abstract = {L. H. Bailey cited Mendel's 1865 and 1869 papers in the bibliography that accompanied his 1892 paper, Cross-Breeding and Hybridizing, and Mendel is mentioned once in the 1895 edition of Bailey's "Plant-Breeding." Bailey claimed to have copied his 1892 references to Mendel from Focke. It seems, however, that while he may have first encountered references to Mendel's work in Focke, he actually copied them from the Royal Society "Catalogue of Scientific Papers." Bailey also saw a reference to Mendel's 1865 paper in Jackson's "Guide to the Literature of Botany." Bailey's 1895 mention of Mendel occurs in a passage he translated from Focke's "Die Pflanzen-Mischlinge."}, } @article {pmid6392411, year = {1984}, author = {Corcos, A and Monaghan, F}, title = {Mendel had no "true" monohybrids.}, journal = {The Journal of heredity}, volume = {75}, number = {6}, pages = {499-500}, doi = {10.1093/oxfordjournals.jhered.a109996}, pmid = {6392411}, issn = {0022-1503}, mesh = {Austria ; Crosses, Genetic ; Fabaceae/genetics ; Genetics/*history ; History, 19th Century ; Hybridization, Genetic ; Plants, Medicinal ; }, abstract = {Mendel's experiments in hybridizing peas started in 1856 and ended in 1863. When one attempts to fit the described experiments--in the sequence indicated in the paper--into those limits some serious implications emerge with regard to parental types needed and the scheduling of the experiments. If Mendel had to develop the parental types of his monohybrid and dihybrid crosses and then do the experiments he described, 8 years would not have been a sufficient amount of time. We believe that his original true-breeding varieties differed in more than one trait on the basis of a logical analysis of breeding relationships. It follows first that his "monohybrid" experiments were performed with varieties in several traits but that in each offering he concentrated his attention on only one, second that he had the parental lines for his dihybrid and trihybrid experiments on hand before he started those experiments.}, } @article {pmid6375354, year = {1984}, author = {Soudek, D}, title = {Gregor Mendel and the people around him (commemorative of the centennial of Mendel's death).}, journal = {American journal of human genetics}, volume = {36}, number = {3}, pages = {495-498}, pmid = {6375354}, issn = {0002-9297}, mesh = {Austria ; Genetics/history ; History, 19th Century ; }, } @article {pmid6399177, year = {1984}, author = {Gedda, L}, title = {In the light of Mendel.}, journal = {Acta geneticae medicae et gemellologiae}, volume = {33}, number = {4}, pages = {527-530}, doi = {10.1017/s0001566000007042}, pmid = {6399177}, issn = {0001-5660}, mesh = {Genetics/history ; History, 19th Century ; Philately ; }, } @article {pmid6377429, year = {1984}, author = {Cruz-Coke, R}, title = {[Centenary of the death of Mendel].}, journal = {Revista medica de Chile}, volume = {112}, number = {1}, pages = {61-64}, pmid = {6377429}, issn = {0034-9887}, mesh = {DNA/history ; Genetics/*history ; History, 19th Century ; }, } @article {pmid6372053, year = {1984}, author = {Sermonti, G}, title = {[Gregor Mendel (1822-1884)].}, journal = {Rivista di biologia}, volume = {77}, number = {1}, pages = {105-113}, pmid = {6372053}, issn = {0035-6050}, mesh = {Austria ; Genetics/*history ; History, 19th Century ; Plants/genetics ; }, } @article {pmid6368675, year = {1984}, author = {Monaghan, F and Corcos, A}, title = {On the origins of the Mendelian laws.}, journal = {The Journal of heredity}, volume = {75}, number = {1}, pages = {67-69}, doi = {10.1093/oxfordjournals.jhered.a109868}, pmid = {6368675}, issn = {0022-1503}, mesh = {Genetics/*history ; History, 19th Century ; History, 20th Century ; }, abstract = {The two laws usually attributed to Mendel were not considered as laws by him. The first law, the law of independent segregation occurs in Mendel's paper as an assumption or hypothesis. Hugo de Vries refers to this as a law discovered by Mendel. This appears to be the first use of an expression equivalent to Mendel's law. In his paper de Vries did not associate the observable characters with structures having a causitive role. That was done by Correns, who transformed the law of segregation of characters into a law of the segregation of anlagen. The second law, the law of independent assortment, is present in embryonic form in Mendel's paper. Here the independent assortment of characters appears as a secondary conclusion to a series of experiments involving several pairs of traits. Mendel repeats the primary conclusion later in the paper but not the secondary one. This leads us to believe that he considered the secondary conclusion as of lesser importance. We note in this context that the 9:3:3:1 ratio commonly associated with the idea of independent assortment, and attributed to Mendel, also does not occur in his paper. A careful reading of the papers of his discoverers shows it was Correns who first drew attention to this ratio. However, he did not formulate the second Mendelian law even though it was clearly implied. Neither was it stated by de Vries. Indeed, the first clear separation of the two laws and the naming of the second law was by T. H. Morgan some 13 years later.}, } @article {pmid6201345, year = {1984}, author = {Oldroyd, D}, title = {Gregor Mendel: founding-father of modern genetics?.}, journal = {Endeavour}, volume = {8}, number = {1}, pages = {29-31}, doi = {10.1016/0160-9327(84)90126-1}, pmid = {6201345}, issn = {0160-9327}, mesh = {Austria ; Genetics/*history ; History, 19th Century ; Plants/genetics ; }, } @article {pmid6144644, year = {1984}, author = {}, title = {Gregor Johann Mendel 1822-1884. In centenary commemoration.}, journal = {Hereditas}, volume = {100}, number = {1}, pages = {II-XIII}, pmid = {6144644}, issn = {0018-0661}, mesh = {Austria ; Congresses as Topic/history ; Genetics/history ; History, 19th Century ; Manuscripts as Topic ; Plants/genetics ; }, } @article {pmid28556014, year = {1983}, author = {Lloyd, M and Kritsky, G and Simon, C}, title = {A SIMPLE MENDELIAN MODEL FOR 13- AND 17- YEAR LIFE CYCLES OF PERIODICAL CICADAS, WITH HISTORICAL EVIDENCE OF HYBRIDIZATION BETWEEN THEM.}, journal = {Evolution; international journal of organic evolution}, volume = {37}, number = {6}, pages = {1162-1180}, doi = {10.1111/j.1558-5646.1983.tb00231.x}, pmid = {28556014}, issn = {1558-5646}, } @article {pmid6341098, year = {1983}, author = {Ríman, J}, title = {From Mendel to molecular genetics and biotechnologies.}, journal = {Folia biologica}, volume = {29}, number = {1}, pages = {1-8}, pmid = {6341098}, issn = {0015-5500}, mesh = {DNA/genetics ; Genetics/*history/trends ; History, 19th Century ; History, 20th Century ; }, } @article {pmid7042533, year = {1982}, author = {Kirkwood, TB and Cremer, T}, title = {Cytogerontology since 1881: a reappraisal of August Weismann and a review of modern progress.}, journal = {Human genetics}, volume = {60}, number = {2}, pages = {101-121}, pmid = {7042533}, issn = {0340-6717}, mesh = {Adaptation, Biological ; Biological Evolution ; *Cell Survival ; *Cytogenetics ; Genes ; Genetics/*history ; Germany ; History, 19th Century ; History, 20th Century ; Humans ; Mutation ; Selection, Genetic ; Transformation, Genetic ; }, abstract = {Cytogerontology, the science of cellular ageing, originated in 1881 with the prediction by August Weismann that the somatic cells of higher animals have limited division potential. Weismann's prediction was derived by considering the role of natural selection in regulating the duration of an organism's life. For various reasons, Weismann's ideas on ageing fell into neglect following his death in 1914, and cytogerontology has only reappeared as a major research area following the demonstration by Hayflick and Moorhead in the early 1960s that diploid human fibroblasts are restricted to a finite number of divisions in vitro. In this review we give a detailed account of Weismann's theory, and we reveal that his ideas were both more extensive in their scope and more pertinent to current research than is generally recognised. We also appraise the progress which has been made over the past hundred years in investigating the causes of ageing, with particular emphasis being given to (i) the evolution of ageing, and (ii) ageing at the cellular level. We critically assess the current state of knowledge in these areas and recommend a series of points as primary targets for future research.}, } @article {pmid6758957, year = {1982}, author = {Campbell, M}, title = {Mendel's theory: its context and plausibility.}, journal = {Centaurus; international magazine of the history of science and medicine}, volume = {26}, number = {1}, pages = {38-69}, doi = {10.1111/j.1600-0498.1982.tb00654.x}, pmid = {6758957}, issn = {0008-8994}, mesh = {Biological Evolution ; Cell Physiological Phenomena ; Fertilization ; Genetics/*history ; History, 19th Century ; Hybridization, Genetic ; Probability Theory ; }, } @article {pmid11615969, year = {1981}, author = {Matalová, A}, title = {Published primary sources to Gregor Mendel's biography. Mendelianum of the Moravian Museum, Brno.}, journal = {Folia mendeliana}, volume = {16}, number = {}, pages = {239-251}, pmid = {11615969}, issn = {0085-0748}, mesh = {Austria ; Genetics/*history ; History, Modern 1601- ; }, } @article {pmid11615958, year = {1981}, author = {Serre, JL}, title = {Mendel's rejection of the concept of blending inheritance.}, journal = {Fundamenta scientiae}, volume = {2}, number = {1}, pages = {55-66}, pmid = {11615958}, issn = {0160-7847}, mesh = {Austria ; Genetics/*history ; History, Modern 1601- ; }, } @article {pmid7404430, year = {1980}, author = {Liberman, U and Feldman, MW}, title = {On the evolutionary significance of Mendel's ratios.}, journal = {Theoretical population biology}, volume = {17}, number = {1}, pages = {1-15}, doi = {10.1016/0040-5809(80)90011-8}, pmid = {7404430}, issn = {0040-5809}, mesh = {*Gene Frequency ; Genes ; *Models, Genetic ; *Polymorphism, Genetic ; }, } @article {pmid24306777, year = {1979}, author = {Morton, JR}, title = {Fisher's reticulate mating system for immigration into an improved stock.}, journal = {TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik}, volume = {55}, number = {6}, pages = {279-284}, pmid = {24306777}, issn = {0040-5752}, abstract = {A reticulate mating system is described which was designed by the late R.A. Fisher to permit the introduction of new genetic variability into an improved stock by immigration. Analysis of part of a long-term experiment to alter the degree of dominance of the mutant Sd in mice using the system demonstrates a rapid response. Its applicability to stocks of animals of economic value is considered.}, } @article {pmid340295, year = {1978}, author = {Novitski, E and Blixt, S}, title = {Mendel, linkage, and synteny.}, journal = {Bioscience}, volume = {28}, number = {1}, pages = {34-35}, pmid = {340295}, issn = {0006-3568}, mesh = {Alleles ; Chromosome Mapping ; Fabaceae/genetics ; *Genetic Linkage ; Genetics/*history ; History, 19th Century ; Plants, Medicinal ; }, } @article {pmid16592475, year = {1977}, author = {Samuelson, PA}, title = {Generalizing Fisher's "reproductive value": Nonlinear, homogeneous, biparental systems.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {74}, number = {12}, pages = {5772-5775}, pmid = {16592475}, issn = {0027-8424}, abstract = {Biparental demographic models violate linearity. However, in their early "dilute" stages before limited environment resources bring need for competitive selection, first-degree-homogeneous relations obtain. For them, a reproductive-value function of the initial coordinates is defined to recapitulate their contribution to the asymptotically dominating mode of exponential growth: now the generalized Fisher reproductive value of one sex is altered by relative numbers of the other sex. The new reproductive-value function is also derived for general systems of homogeneous-first-degree differential and difference equations, and is shown to grow from the start at the asymptotic growth rate.}, } @article {pmid329015, year = {1977}, author = {Dewald, GW}, title = {Gregor Johann Mendel and the beginning of genetics.}, journal = {Mayo Clinic proceedings}, volume = {52}, number = {8}, pages = {513-518}, pmid = {329015}, issn = {0025-6196}, mesh = {Austria ; Genetics/*history ; History, 19th Century ; }, } @article {pmid330470, year = {1977}, author = {Douglas, L and Novitski, E}, title = {What chance did Mendel's experiments give him of noticing linkage?.}, journal = {Heredity}, volume = {38}, number = {2}, pages = {253-257}, doi = {10.1038/hdy.1977.30}, pmid = {330470}, issn = {0018-067X}, mesh = {Chromosomes ; Genes ; *Genetic Linkage ; Genetics/history ; History, 19th Century ; Probability ; }, abstract = {The a priori probability of noticeable linkage among all conceivable experiments of the size reported by Mendel cannot reasonably be taken as greater than 24-36 per cent; and therefore, the frequently heard opinion that his chances of encountering linkage were high, approaching 99-4 per cent, appears to be mistaken.}, } @article {pmid1097939, year = {1975}, author = {Blixt, S}, title = {Why didn't Gregor Mendel find linkage?.}, journal = {Nature}, volume = {256}, number = {5514}, pages = {206}, doi = {10.1038/256206a0}, pmid = {1097939}, issn = {0028-0836}, mesh = {Alleles ; Chromosome Mapping ; *Genetic Linkage ; Genetics/history ; History, 19th Century ; }, } @article {pmid1127906, year = {1975}, author = {Russ, FM and Simmons, FB}, title = {Letter: Reply to Mendel's and Harker's comments on "five years of experience with electric response audiometry".}, journal = {Journal of speech and hearing research}, volume = {18}, number = {1}, pages = {222-223}, doi = {10.1044/jshr.1801.222}, pmid = {1127906}, issn = {0022-4685}, mesh = {Audiometry/*methods ; Electric Stimulation ; Humans ; }, } @article {pmid1100571, year = {1975}, author = {Wanscher, JH}, title = {An analysis of Wilhelm Johannsen's genetical term "genotype' 1909--26.}, journal = {Hereditas}, volume = {79}, number = {1}, pages = {1-4}, doi = {10.1111/j.1601-5223.1975.tb01456.x}, pmid = {1100571}, issn = {0018-0661}, mesh = {Genetics/*history ; *Genotype ; History, 20th Century ; Phenotype ; *Terminology as Topic ; }, } @article {pmid4598481, year = {1974}, author = {Bowler, PJ}, title = {Darwin's concepts of variation.}, journal = {Journal of the history of medicine and allied sciences}, volume = {29}, number = {2}, pages = {196-212}, doi = {10.1093/jhmas/xxix.2.196}, pmid = {4598481}, issn = {0022-5045}, mesh = {England ; *Genetic Variation ; Genetics/*history ; History, 19th Century ; }, } @article {pmid4593136, year = {1973}, author = {Orel, V}, title = {The scientific milieu in Brno during the era of Mendel's research.}, journal = {The Journal of heredity}, volume = {64}, number = {6}, pages = {314-318}, doi = {10.1093/oxfordjournals.jhered.a108428}, pmid = {4593136}, issn = {0022-1503}, mesh = {Czechoslovakia ; Genetics/*history ; History, 19th Century ; }, } @article {pmid4581546, year = {1973}, author = {Cruz-Coke, R}, title = {[Mendel in the history of medicine].}, journal = {Revista medica de Chile}, volume = {101}, number = {3}, pages = {252-256}, pmid = {4581546}, issn = {0034-9887}, mesh = {Austria ; Czechoslovakia ; Genetic Diseases, Inborn/history ; Genetics/*history ; History, 19th Century ; Humans ; }, } @article {pmid4567502, year = {1972}, author = {Orel, V}, title = {Mendel's elder friar and teacher, Matthew Klácel (1808-1882).}, journal = {The Quarterly review of biology}, volume = {47}, number = {4}, pages = {435-436}, doi = {10.1086/407401}, pmid = {4567502}, issn = {0033-5770}, mesh = {Czechoslovakia ; Genetics/history ; History, 19th Century ; Teaching ; }, } @article {pmid4561361, year = {1972}, author = {Kenéz, J}, title = {[Johann Gregor Mendel, founder of modern genetics (1822-1884)].}, journal = {Orvosi hetilap}, volume = {113}, number = {42}, pages = {2539-2541}, pmid = {4561361}, issn = {0030-6002}, mesh = {Austria ; Czechoslovakia ; Genetics/*history ; History, 19th Century ; }, } @article {pmid4559883, year = {1972}, author = {Sajner, J}, title = {[150 years since the birth of G.J. Mendel].}, journal = {Vnitrni lekarstvi}, volume = {18}, number = {8}, pages = {814-815}, pmid = {4559883}, issn = {0042-773X}, mesh = {Czechoslovakia ; Genetics/history ; History, 19th Century ; }, } @article {pmid4940383, year = {1971}, author = {Weiling, F}, title = {[New findings on the statistical antecedents of Mendel's experiments].}, journal = {Biometrics}, volume = {27}, number = {3}, pages = {709-719}, pmid = {4940383}, issn = {0006-341X}, mesh = {Austria ; Biometry/*history ; Genetics/*history ; History, 19th Century ; }, } @article {pmid4938462, year = {1971}, author = {Froggatt, P and Nevin, NC}, title = {The 'law of ancestral heredity' and the Mendelian-ancestrian controversy in England, 1889-1906.}, journal = {Journal of medical genetics}, volume = {8}, number = {1}, pages = {1-36}, pmid = {4938462}, issn = {0022-2593}, mesh = {Animals ; Biometry ; Breeding ; England ; Genetic Variation ; Genetics/*history ; History, 19th Century ; History, 20th Century ; Humans ; Hybridization, Genetic ; Mice ; Selection, Genetic ; Statistics as Topic ; }, } @article {pmid4927109, year = {1971}, author = {Orel, V}, title = {[Gregor Mendel and the animal breeding in Moravia].}, journal = {Schweizer Archiv fur Tierheilkunde}, volume = {113}, number = {2}, pages = {82-83}, pmid = {4927109}, issn = {0036-7281}, mesh = {Animal Population Groups/classification ; Animals ; Breeding/*history ; Czechoslovakia ; Genetics/*history ; History, 19th Century ; }, } @article {pmid5094720, year = {1971}, author = {Mertens, TR}, title = {Teaching Mendel's second law.}, journal = {The Journal of heredity}, volume = {62}, number = {1}, pages = {48-52}, doi = {10.1093/oxfordjournals.jhered.a108122}, pmid = {5094720}, issn = {0022-1503}, mesh = {Animals ; Drosophila ; Female ; Genes, Dominant ; Genes, Lethal ; Genetic Linkage ; *Genetics ; Male ; Mice ; Recombination, Genetic ; Sex Chromosomes ; *Teaching ; }, } @article {pmid20311624, year = {1970}, author = {Perl, AF}, title = {Gregor Johann mendel.}, journal = {Canadian Medical Association journal}, volume = {102}, number = {9}, pages = {987}, pmid = {20311624}, issn = {0008-4409}, } @article {pmid4905521, year = {1969}, author = {Quarneti, G and Selmi, G}, title = {[Evolution of knowledge of heredity in biology. II. From Mendel onwards].}, journal = {Giornale di batteriologia, virologia, ed immunologia ed annali dell'Ospedale Maria Vittoria di Torino}, volume = {62}, number = {9}, pages = {761-770}, pmid = {4905521}, issn = {0017-0267}, mesh = {Genetics/*history ; History, 19th Century ; History, 20th Century ; Research ; }, } @article {pmid4922561, year = {1969}, author = {Gustafsson, A}, title = {The life of Gregor Johann Mendel--tragic or not?.}, journal = {Hereditas}, volume = {62}, number = {1}, pages = {239-258}, doi = {10.1111/j.1601-5223.1969.tb02232.x}, pmid = {4922561}, issn = {0018-0661}, mesh = {Austria ; *Famous Persons ; Genetics/*history ; History, 19th Century ; }, } @article {pmid4891064, year = {1968}, author = {Corcos, AF}, title = {Colladon of Geneva, a precursor of Mendel?.}, journal = {The Journal of heredity}, volume = {59}, number = {6}, pages = {373-374}, doi = {10.1093/oxfordjournals.jhered.a107751}, pmid = {4891064}, issn = {0022-1503}, mesh = {*Famous Persons ; Genetics/*history ; History, 19th Century ; Switzerland ; }, } @article {pmid24442214, year = {1968}, author = {Weiling, F}, title = {[F. C. NAPP andJ. G. MENDEL a contribution to the prehistory ofMENDEL's experiments].}, journal = {TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik}, volume = {38}, number = {4}, pages = {144-148}, doi = {10.1007/BF00933809}, pmid = {24442214}, issn = {0040-5752}, abstract = {On the centenary of the death ofF. C. NAPP (22. 7. 1867), abbot of the St. Thomas-monastery of Old-Brünn, who admittedJ. G. MENDEL in his convent, enabled him to study natural science and to carry out his experiments, and on the centenary of the election ofMENDEL to succeedNAPP as abbot (31. 3. 1868), we take note of the relationship between these two men as it concerns the discoveries ofMENDEL. Following a short biography ofNAPP we appreciate his service to agriculture and its basic sciences. We find a close connection between the scientific work ofMENDEL andNAPP in meteorology and bee keeping.}, } @article {pmid4875192, year = {1968}, author = {Posner, E and Skutil, J}, title = {The great neglect: the fate of Mendel's classic paper between 1865 and 1900.}, journal = {Medical history}, volume = {12}, number = {2}, pages = {122-136}, pmid = {4875192}, issn = {0025-7273}, mesh = {Europe ; *Famous Persons ; Genetics/*history ; History, 19th Century ; History, 20th Century ; Manuscripts as Topic/*history ; United States ; }, } @article {pmid4874674, year = {1968}, author = {Sajner, J}, title = {[Discovery of an additional unknown separate copy of Mendel's work: "Versuche über Pflanzen-Hybriden" (Experiments on plant hybrids)?].}, journal = {Casopis lekaru ceskych}, volume = {107}, number = {13}, pages = {399-400}, pmid = {4874674}, issn = {0008-7335}, mesh = {Czechoslovakia ; History, 19th Century ; Hybridization, Genetic/*history ; *Plants ; }, } @article {pmid4885072, year = {1968}, author = {Lush, JL}, title = {Genetic unknowns and animal breeding a century after Mendel.}, journal = {Transactions of the Kansas Academy of Science. Kansas Academy of Science}, volume = {71}, number = {3}, pages = {309-314}, pmid = {4885072}, issn = {0022-8443}, mesh = {Animals ; *Breeding ; Cattle ; Genetic Diseases, Inborn/*veterinary ; Genetics/*history ; History of Medicine ; *Veterinary Medicine ; }, } @article {pmid4880928, year = {1968}, author = {van der Waerden, BL}, title = {Mendel's experiments.}, journal = {Centaurus; international magazine of the history of science and medicine}, volume = {12}, number = {4}, pages = {275-288}, doi = {10.1111/j.1600-0498.1968.tb00098.x}, pmid = {4880928}, issn = {0008-8994}, mesh = {Austria ; Genetics/*history ; History, 19th Century ; Mathematics ; Plants ; }, } @article {pmid4860947, year = {1967}, author = {Gibson, J}, title = {Great doctors and medical scientists. 3. Mendel and heredity.}, journal = {Nursing times}, volume = {63}, number = {43}, pages = {1456-1458}, pmid = {4860947}, issn = {0954-7762}, mesh = {Czechoslovakia ; Genetics/*history ; History, 19th Century ; }, } @article {pmid6038681, year = {1967}, author = {Stern, C and Hutt, FB}, title = {Mendel's memorabilia.}, journal = {Science (New York, N.Y.)}, volume = {157}, number = {3793}, pages = {1119}, doi = {10.1126/science.157.3793.1119}, pmid = {6038681}, issn = {0036-8075}, mesh = {Czechoslovakia ; *Famous Persons ; Genetics/*history ; *Manuscripts as Topic ; }, } @article {pmid4859988, year = {1967}, author = {Orel, V and Jindra, J}, title = {[Pavlov's attitude towards Mendel and genetics].}, journal = {Casopis lekaru ceskych}, volume = {106}, number = {17}, pages = {463-465}, pmid = {4859988}, issn = {0008-7335}, mesh = {Czechoslovakia ; Genetics/*history ; History, 19th Century ; History, 20th Century ; USSR ; }, } @article {pmid5342900, year = {1966}, author = {Precechtĕl, A}, title = {[Introduction to the working session of the Committee for Research of Otosclerosis and Kophosurgery, held on December 3, 1965, to commemorate the centennial of the discovery of Gregory Mendel's basic genetic laws].}, journal = {Ceskoslovenska otolaryngologie}, volume = {15}, number = {6}, pages = {321-322}, pmid = {5342900}, issn = {0009-0603}, mesh = {Czechoslovakia ; Genetics/*history ; History, 19th Century ; History, 20th Century ; }, } @article {pmid5329496, year = {1966}, author = {Mark, HH}, title = {Gregor Johann Mendel on Pisum sativum. A centennial.}, journal = {Archives of ophthalmology (Chicago, Ill. : 1960)}, volume = {76}, number = {2}, pages = {287-289}, doi = {10.1001/archopht.1966.03850010289022}, pmid = {5329496}, issn = {0003-9950}, mesh = {Czechoslovakia ; Genetics/*history ; History, 19th Century ; }, } @article {pmid5329520, year = {1966}, author = {Thoday, JM}, title = {Mendel's work as an introduction to genetics.}, journal = {Advancement of science}, volume = {23}, number = {109}, pages = {120-124}, pmid = {5329520}, issn = {0001-866X}, mesh = {Genetics/*history ; History, 19th Century ; }, } @article {pmid5329519, year = {1966}, author = {Bell, GD}, title = {The Mendel centenary. Chairman's introduction.}, journal = {Advancement of science}, volume = {23}, number = {109}, pages = {118-120}, pmid = {5329519}, issn = {0001-866X}, mesh = {Genetics/*history ; History, 19th Century ; }, } @article {pmid4379518, year = {1966}, author = {Sager, R}, title = {Mendelian and non-Mendelian heredity: a reappraisal.}, journal = {Proceedings of the Royal Society of London. Series B, Biological sciences}, volume = {164}, number = {995}, pages = {290-297}, doi = {10.1098/rspb.1966.0031}, pmid = {4379518}, issn = {0950-1193}, mesh = {*Genetics ; }, } @article {pmid4379512, year = {1966}, author = {Waddington, CH}, title = {Mendel and the study of development.}, journal = {Proceedings of the Royal Society of London. Series B, Biological sciences}, volume = {164}, number = {995}, pages = {219-229}, doi = {10.1098/rspb.1966.0025}, pmid = {4379512}, issn = {0950-1193}, mesh = {Animals ; *Biological Evolution ; *Genetics ; In Vitro Techniques ; }, } @article {pmid4871115, year = {1966}, author = {de Morsier, G}, title = {[Jean-Antoine Colladon (1755-1830), a precursor of Mendel].}, journal = {Journal de genetique humaine}, volume = {15}, number = {}, pages = {Suppl:255-62}, pmid = {4871115}, issn = {0021-7743}, mesh = {Genetics/*history ; Germany ; History, 18th Century ; History, 19th Century ; Switzerland ; }, } @article {pmid5338340, year = {1965}, author = {Dubinin, NP}, title = {[Gregor Mendel--the founder of genetics].}, journal = {Izvestiia Akademii nauk SSSR. Seriia biologicheskaia}, volume = {6}, number = {}, pages = {809-824}, pmid = {5338340}, issn = {0002-3329}, mesh = {Austria ; Genetics/*history ; *History, 19th Century ; }, } @article {pmid5337880, year = {1965}, author = {Vakhtin, IuB}, title = {[Johann Gregor Mendel].}, journal = {Tsitologiia}, volume = {7}, number = {6}, pages = {701-703}, pmid = {5337880}, issn = {0041-3771}, mesh = {Austria ; Biology/*history ; History, 19th Century ; }, } @article {pmid5331252, year = {1965}, author = {Svob, T}, title = {[Mendel and Mendalism and his place in medicine. (100th anniversary of the mendelian law)].}, journal = {Medicinski arhiv}, volume = {19}, number = {6}, pages = {29-40}, pmid = {5331252}, mesh = {Genetics/*history ; History, 19th Century ; }, } @article {pmid5330384, year = {1965}, author = {Sajner, J}, title = {[Gregor Johann Mendel's vision and eyeglasses].}, journal = {Klinische Monatsblatter fur Augenheilkunde}, volume = {147}, number = {4}, pages = {600-603}, pmid = {5330384}, issn = {0023-2165}, mesh = {*Eye Diseases ; *Eyeglasses ; *Famous Persons ; History of Medicine ; Humans ; *Vision, Ocular ; }, } @article {pmid5322527, year = {1965}, author = {Steytler, JG}, title = {[Gregor Johnann Mendel (1822-1884) the founder of the science of genetics].}, journal = {South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde}, volume = {39}, number = {36}, pages = {827-828}, pmid = {5322527}, issn = {0256-9574}, mesh = {Genetics/*history ; History, 19th Century ; }, } @article {pmid5331606, year = {1965}, author = {Astaurov, BL}, title = {[On the scientific heritage of Gregor Mendel].}, journal = {Zhurnal obshchei biologii}, volume = {26}, number = {5}, pages = {521-527}, pmid = {5331606}, issn = {0044-4596}, mesh = {Austria ; Genetics/*history ; History, 19th Century ; }, } @article {pmid5331605, year = {1965}, author = {Lobashev, ME}, title = {[Genetics and natural science. (On the centennary of Gregor Johann Mendel's discovery)].}, journal = {Zhurnal obshchei biologii}, volume = {26}, number = {5}, pages = {513-520}, pmid = {5331605}, issn = {0044-4596}, mesh = {Austria ; Genetics/*history ; History, 19th Century ; }, } @article {pmid5322351, year = {1965}, author = {Sajner, J}, title = {[The fatal disease of Gregor Mendel].}, journal = {Vnitrni lekarstvi}, volume = {11}, number = {9}, pages = {909-916}, pmid = {5322351}, issn = {0042-773X}, mesh = {Genetics/*history ; History, 19th Century ; }, } @article {pmid4878292, year = {1965}, author = {Ondarza, RN}, title = {[Centenary of the publication of the works of Gregor Mendel on genetics. V. Mendelism and biological evolution].}, journal = {Gaceta medica de Mexico}, volume = {95}, number = {9}, pages = {815-825}, pmid = {4878292}, issn = {0016-3813}, mesh = {Biological Evolution/*history ; *Famous Persons ; Genetics/*history ; History of Medicine ; History, 19th Century ; History, 20th Century ; }, } @article {pmid4878291, year = {1965}, author = {Hernández Corzo, A}, title = {[Centenary of the publication of the works of Gtegor Mendel on genetics. IV. From the Mendelian units to the new particles of inheritance].}, journal = {Gaceta medica de Mexico}, volume = {95}, number = {9}, pages = {807-814}, pmid = {4878291}, issn = {0016-3813}, mesh = {*Famous Persons ; Genes/*history ; Genetics/*history ; History of Medicine ; History, 19th Century ; History, 20th Century ; }, } @article {pmid4878290, year = {1965}, author = {Salazar Mallén, M}, title = {[Centenary of the publication of the works of Gregor Mendel on genetics. 3. The laws of heredity and human pathology].}, journal = {Gaceta medica de Mexico}, volume = {95}, number = {9}, pages = {795-806}, pmid = {4878290}, issn = {0016-3813}, mesh = {*Famous Persons ; Genetic Diseases, Inborn/*history ; Genetics/*history ; History of Medicine ; History, 19th Century ; History, 20th Century ; }, } @article {pmid4878289, year = {1965}, author = {Somolinos D'Ardois, G}, title = {[Centenary of the publication of the works of Gregor Mendel on genetics. II. The abbot Gregor Mendel and his era].}, journal = {Gaceta medica de Mexico}, volume = {95}, number = {9}, pages = {781-794}, pmid = {4878289}, issn = {0016-3813}, mesh = {*Famous Persons ; Genetics/*history ; History of Medicine ; History, 19th Century ; }, } @article {pmid4878288, year = {1965}, author = {Salazar Mallén, M}, title = {[Centenary of the publication of the works of Gregor Mendel on genetics. I. Introduction].}, journal = {Gaceta medica de Mexico}, volume = {95}, number = {9}, pages = {777-779}, pmid = {4878288}, issn = {0016-3813}, mesh = {*Famous Persons ; Genetics/*history ; History of Medicine ; History, 19th Century ; }, } @article {pmid5322168, year = {1965}, author = {Gedda, L}, title = {[From Mendel to clinical genetics].}, journal = {Il Policlinico. Sezione pratica}, volume = {72}, number = {31}, pages = {1029-1037}, pmid = {5322168}, issn = {0032-2644}, mesh = {Genetics/*history ; *Genetics, Medical ; History, 19th Century ; }, } @article {pmid5332142, year = {1965}, author = {Alikhanian, SI}, title = {[Gregor Johann Mendel].}, journal = {Mikrobiologiia}, volume = {34}, number = {4}, pages = {733-739}, pmid = {5332142}, issn = {0026-3656}, mesh = {Austria ; Botany/*history ; Genetics/*history ; History, 19th Century ; }, } @article {pmid5328933, year = {1965}, author = {Tiniakov, GG}, title = {[Gregor Mendel--founder of the science of heredity. (On the centenary of the foundation of experimental genetics)].}, journal = {Veterinariia}, volume = {42}, number = {7}, pages = {112-113}, pmid = {5328933}, issn = {0042-4846}, mesh = {Genetics/*history ; History, 19th Century ; USSR ; }, } @article {pmid5321014, year = {1965}, author = {Saavedra, AM}, title = {[The abbot Gregor Johann Mendel].}, journal = {Medicina}, volume = {45}, number = {964}, pages = {73-74}, pmid = {5321014}, issn = {0025-7702}, mesh = {Genetics/history ; History, 19th Century ; }, } @article {pmid14334454, year = {1965}, author = {DRAGOTTI, G}, title = {[CENTENNIAL OF THE GENETIC LAWS OF MENDEL].}, journal = {Il Policlinico. Sezione pratica}, volume = {72}, number = {}, pages = {388-390}, pmid = {14334454}, issn = {0032-2644}, mesh = {*Genetic Therapy ; *Genetics ; History, 19th Century ; *Medicine ; }, } @article {pmid14245194, year = {1965}, author = {CAMERON, D}, title = {MENDEL TO-DAY.}, journal = {British medical journal}, volume = {1}, number = {5435}, pages = {659}, doi = {10.1136/bmj.1.5435.659}, pmid = {14245194}, issn = {0007-1447}, mesh = {*Genetics ; *Genetics, Medical ; Humans ; *Research ; }, } @article {pmid5318215, year = {1965}, author = {Cruz-Coke, R}, title = {[The Mendel centenary].}, journal = {Revista medica de Chile}, volume = {93}, number = {3}, pages = {127-129}, pmid = {5318215}, issn = {0034-9887}, mesh = {Genetics/*history ; History, 19th Century ; Humans ; }, } @article {pmid14237908, year = {1965}, author = {}, title = {CENTENARY OF MENDEL'S PAPER.}, journal = {British medical journal}, volume = {1}, number = {5431}, pages = {368-374}, pmid = {14237908}, issn = {0007-1447}, mesh = {*Genetics ; History, 19th Century ; *Medicine ; *Paper ; }, } @article {pmid14237897, year = {1965}, author = {SORSBY, A}, title = {GREGOR MENDEL.}, journal = {British medical journal}, volume = {1}, number = {5431}, pages = {333-338}, doi = {10.1136/bmj.1.5431.333}, pmid = {14237897}, issn = {0007-1447}, mesh = {Austria ; Czechoslovakia ; *Genetics ; *Genetics, Medical ; History, 19th Century ; *Medicine ; }, } @article {pmid14237892, year = {1965}, author = {}, title = {THE CENTENARY OF MENDEL'S DISCOVERY.}, journal = {British medical journal}, volume = {1}, number = {5431}, pages = {327-328}, pmid = {14237892}, issn = {0007-1447}, mesh = {Austria ; Czechoslovakia ; *Genetics ; History, 19th Century ; *Medicine ; }, } @article {pmid5329165, year = {1965}, author = {Weiling, F}, title = {[Mendel's genetic experiments from the biometric viewpoint].}, journal = {Biometrische Zeitschrift}, volume = {7}, number = {4}, pages = {230-262}, doi = {10.1002/bimj.19650070404}, pmid = {5329165}, issn = {0006-3452}, mesh = {*Biometry ; Czechoslovakia ; *Genetics ; History, 19th Century ; }, } @article {pmid5329164, year = {1965}, author = {Heinisch, O}, title = {[Johann Gregor Mendel's study of mathematics and natural sciences].}, journal = {Biometrische Zeitschrift}, volume = {7}, number = {4}, pages = {217-221}, doi = {10.1002/bimj.19650070402}, pmid = {5329164}, issn = {0006-3452}, mesh = {Czechoslovakia ; *Genetics ; History, 19th Century ; }, } @article {pmid4868655, year = {1965}, author = {Klein, D}, title = {[Gregor Mendel, the classic Mendelism and its influence on human genetics].}, journal = {Archiv der Julius Klaus-Stiftung fur Vererbungsforschung, Sozialanthropologie und Rassenhygiene}, volume = {40}, number = {1-4}, pages = {9-18}, pmid = {4868655}, issn = {0003-8881}, mesh = {Austria ; Genetics, Medical/*history ; History, 19th Century ; }, } @article {pmid14122816, year = {1964}, author = {BARNETT, CF}, title = {GREGOR JOHANN MENDEL--GENETICIST.}, journal = {The New physician}, volume = {13}, number = {}, pages = {A88-A89}, pmid = {14122816}, issn = {0028-6451}, mesh = {*Genetics ; *History, 19th Century ; *Physicians ; }, } @article {pmid14093452, year = {1963}, author = {SAJNER, J}, title = {[GREGOR MENDEL'S DISEASE AND DEATH].}, journal = {Sudhoffs Archiv fur Geschichte der Medizin und der Naturwissenschaften}, volume = {47}, number = {}, pages = {377-382}, pmid = {14093452}, issn = {0365-2610}, mesh = {*Death ; *Genetics ; *History, 19th Century ; *Nephritis ; }, } @article {pmid14093446, year = {1963}, author = {KRIZENECKY, J}, title = {[MENDEL'S UNSUCCESSFUL 2ND EXAMINATION FOR TEACHING AT HIGH SCHOOLS IN 1856].}, journal = {Sudhoffs Archiv fur Geschichte der Medizin und der Naturwissenschaften}, volume = {47}, number = {}, pages = {305-310}, pmid = {14093446}, issn = {0365-2610}, mesh = {*Genetics ; *History, 19th Century ; *Schools ; }, } @article {pmid13993128, year = {1963}, author = {Smith, AH}, title = {Lafayette B. MENDEL, companion in research.}, journal = {The American journal of clinical nutrition}, volume = {12}, number = {}, pages = {261-263}, doi = {10.1093/ajcn/12.4.261}, pmid = {13993128}, issn = {0002-9165}, mesh = {*Friends ; History, 19th Century ; History, 20th Century ; *Research ; }, } @article {pmid13713672, year = {1961}, author = {HERNDON, CN}, title = {Basic contributions to medicine by research in genetics.}, journal = {JAMA}, volume = {177}, number = {}, pages = {695-699}, doi = {10.1001/jama.1961.73040360004005a}, pmid = {13713672}, issn = {0098-7484}, mesh = {*Genetics ; Humans ; *Medicine ; *Research ; }, } @article {pmid13769416, year = {1960}, author = {MENESES HOYOS, J}, title = {[The discovery and rediscovery of the laws of heredity. (The work of Johann Gregor Mendel)].}, journal = {Revista. Asociacion Medica Mexicana}, volume = {40}, number = {}, pages = {401-410}, pmid = {13769416}, mesh = {Genetics/*history ; *Heredity ; Humans ; *Work ; }, } @article {pmid13841025, year = {1959}, author = {VAN DER PAS, PW}, title = {A note on the bibliography of Gregor Mendel.}, journal = {Medical history}, volume = {3}, number = {}, pages = {331-333}, doi = {10.1017/s002572730002487x}, pmid = {13841025}, issn = {0025-7273}, mesh = {*Genetics ; Humans ; }, } @article {pmid19598799, year = {1959}, author = {Levitas, TC}, title = {Mendel Nevin, D.D.S.}, journal = {Journal of the American Dental Society of Anesthesiology}, volume = {6}, number = {4}, pages = {8-9}, pmid = {19598799}, } @article {pmid13643143, year = {1959}, author = {PLATT, R}, title = {Darwin, Mendel, and Galton.}, journal = {Medical history}, volume = {3}, number = {2}, pages = {87-99}, doi = {10.1017/s0025727300024376}, pmid = {13643143}, issn = {0025-7273}, mesh = {*Heredity ; *History, 19th Century ; *History, 20th Century ; }, } @article {pmid13411871, year = {1957}, author = {SMITH, CA}, title = {Counting methods in genetical statistics.}, journal = {Annals of human genetics}, volume = {21}, number = {3}, pages = {254-276}, doi = {10.1111/j.1469-1809.1972.tb00287.x}, pmid = {13411871}, issn = {0003-4800}, mesh = {*Genetics ; Humans ; }, } @article {pmid13266608, year = {1955}, author = {ORLOWSKI, T}, title = {[Determination of creatinine in biological fluids during Popper's, Mendel's and Mayer's methods].}, journal = {Polskie Archiwum Medycyny Wewnetrznej}, volume = {25}, number = {4}, pages = {719-729}, pmid = {13266608}, mesh = {Creatinine/*analysis ; Humans ; }, } @article {pmid13079559, year = {1953}, author = {MAYER, CF}, title = {Genesis of genetics; the growing knowledge of heredity before and after Mendel.}, journal = {Acta geneticae medicae et gemellologiae}, volume = {2}, number = {3}, pages = {237-332}, doi = {10.1017/s1120962300027098}, pmid = {13079559}, issn = {0001-5660}, mesh = {*Biological Phenomena ; Genetics/*history ; *Heredity ; Humans ; *Knowledge ; *Physiological Phenomena ; }, } @article {pmid13079280, year = {1953}, author = {NOVINSKII, II}, title = {[Critique of defense of weismannism].}, journal = {Zhurnal obshchei biologii}, volume = {14}, number = {3}, pages = {238-246}, pmid = {13079280}, issn = {0044-4596}, mesh = {*Genetics ; Humans ; }, } @article {pmid13025448, year = {1952}, author = {STENGEL VON RUTKOWSKI, L}, title = {[Inheritance patterns].}, journal = {Munchener medizinische Wochenschrift (1950)}, volume = {94}, number = {51}, pages = {2588-2590}, pmid = {13025448}, issn = {0027-2973}, mesh = {*Heredity ; *Inheritance Patterns ; }, } @article {pmid14949146, year = {1952}, author = {RUSSU, N and TURRISI, E}, title = {[Mendel's and Hoogland's colorimetric method of determination of glycemia].}, journal = {Il Progresso medico}, volume = {8}, number = {9}, pages = {272-275}, pmid = {14949146}, issn = {0370-1514}, mesh = {Blood Glucose/*analysis ; *Colorimetry ; }, } @article {pmid14954815, year = {1952}, author = {NEUMANN, RO}, title = {[32 Years experiments in the years 1896-1928; a historical review].}, journal = {Deutsche Zeitschrift fur Verdauungs- und Stoffwechselkrankheiten}, volume = {12}, number = {2}, pages = {51-55}, pmid = {14954815}, issn = {0012-1053}, mesh = {Humans ; *Metabolism ; }, } @article {pmid12989426, year = {1952}, author = {WEIJER, J}, title = {The colour-differences in Epipactis helleborine (L.) Cr. Wats. & Coult., and the selection of the genetical varieties by environment.}, journal = {Genetica}, volume = {26}, number = {1}, pages = {1-32}, doi = {10.1007/BF01690613}, pmid = {12989426}, issn = {0016-6707}, mesh = {*Color ; *Environment ; *Genetics ; *Plants ; }, } @article {pmid14875581, year = {1951}, author = {BURROS, RH}, title = {Three rational methods for the reduction of skewness.}, journal = {Psychological bulletin}, volume = {48}, number = {6}, pages = {505-511}, doi = {10.1037/h0060008}, pmid = {14875581}, issn = {0033-2909}, mesh = {Humans ; *Statistics as Topic ; }, } @article {pmid14880395, year = {1951}, author = {HIMWICH, WA}, title = {Lafayette B. Mendel and his scientific ancestry.}, journal = {Journal of the American Dietetic Association}, volume = {27}, number = {9}, pages = {726-731}, pmid = {14880395}, issn = {0002-8223}, mesh = {History, 19th Century ; History, 20th Century ; Humans ; }, } @article {pmid24541399, year = {1951}, author = {BAILEY, NT}, title = {On simplifying the use of Fisher's u-statistics in the detection of linkage in man.}, journal = {Annals of eugenics}, volume = {16}, number = {1}, pages = {26-32}, doi = {10.1111/j.1469-1809.1951.tb02456.x}, pmid = {24541399}, mesh = {Animals ; *Biometry ; *Genetic Linkage ; *Genetics ; Humans ; *Mustelidae ; }, } @article {pmid14873406, year = {1951}, author = {GRISHKO, NN}, title = {[Creator of new forms of plants:N. F. Kashchenko].}, journal = {Izvestiia Akademii nauk SSSR. Seriia biologicheskaia}, volume = {4}, number = {}, pages = {3-13}, pmid = {14873406}, issn = {0002-3329}, mesh = {*Heredity ; History, 19th Century ; History, 20th Century ; Plants/*genetics ; }, } @article {pmid14840950, year = {1951}, author = {ZIRKLE, C}, title = {Gregor Mendel & his precursors.}, journal = {Isis; an international review devoted to the history of science and its cultural influences}, volume = {42}, number = {128}, pages = {97-104}, doi = {10.1086/349277}, pmid = {14840950}, issn = {0021-1753}, mesh = {*Botany ; History, 19th Century ; }, } @article {pmid24539702, year = {1951}, author = {WELLS, DG}, title = {Inheritance and linkage relations of some foliage colour mutants in peas.}, journal = {Journal of genetics}, volume = {50}, number = {2}, pages = {215-220}, pmid = {24539702}, issn = {0022-1333}, mesh = {*Color ; *Databases, Genetic ; *Genetic Linkage ; *Genetics ; *Heredity ; *Peas ; }, } @article {pmid14824540, year = {1951}, author = {}, title = {FACSIMILE of Gregor Mendel's "Experiments in plant hybridation".}, journal = {The Journal of heredity}, volume = {42}, number = {1}, pages = {3-47}, pmid = {14824540}, issn = {0022-1503}, mesh = {*Genetics ; History, 19th Century ; *Plants ; }, } @article {pmid14792711, year = {1950}, author = {BRUCHER, EH}, title = {[Fifty years study of genetics; Dr. Erich von Tschermak-Seysenegg, last living rediscoverer of Mendel's law].}, journal = {Ciencia e investigacion}, volume = {6}, number = {10}, pages = {469-471}, pmid = {14792711}, issn = {0009-6733}, mesh = {*Genetics ; *History, 19th Century ; *History, 20th Century ; *Life ; }, } @article {pmid14773780, year = {1950}, author = {CORRENS, C}, title = {G. Mendel's law concerning the behavior of progeny of varietal hybrids.}, journal = {Genetics}, volume = {35}, number = {5 2}, pages = {33-41}, pmid = {14773780}, issn = {0016-6731}, mesh = {*Family ; *Genetics ; }, } @article {pmid14773778, year = {1950}, author = {MENDEL, G}, title = {Gregor Mendel's letters to Carl Nägeli, 1866-1873.}, journal = {Genetics}, volume = {35}, number = {5 2}, pages = {1-29}, pmid = {14773778}, issn = {0016-6731}, mesh = {*Genetics ; *History, 19th Century ; Humans ; }, } @article {pmid18153324, year = {1949}, author = {LEIKIND, MC}, title = {The genetics controversy in the U.S.S.R.; a bibliographic survey.}, journal = {The Journal of heredity}, volume = {40}, number = {7}, pages = {203-208}, doi = {10.1093/oxfordjournals.jhered.a106025}, pmid = {18153324}, issn = {0022-1503}, mesh = {*Heredity ; Humans ; USSR ; United States ; }, } @article {pmid18127572, year = {1949}, author = {HARE, WW and WALKER, JC and DELWICHE, EJ}, title = {Inheritance of a gene for near-wilt resistance in the garden pea.}, journal = {Journal of agricultural research}, volume = {78}, number = {8}, pages = {239-250}, pmid = {18127572}, issn = {0095-9758}, mesh = {*Databases, Genetic ; *Genetic Phenomena ; *Heredity ; *Peas ; }, } @article {pmid20268996, year = {1947}, author = {LIENHART, R}, title = {A note about the fundamental work of Gregor Mendel.}, journal = {Comptes rendus des seances de la Societe de biologie et de ses filiales}, volume = {141}, number = {3-4}, pages = {182}, pmid = {20268996}, issn = {0037-9026}, mesh = {Humans ; }, } @article {pmid29646951, year = {1940}, author = {Crew, FAE}, title = {On the Contributions of Genetics to Reconstructive Medicine.}, journal = {Edinburgh medical journal}, volume = {47}, number = {10}, pages = {653-663}, pmid = {29646951}, issn = {0367-1038}, } @article {pmid21433690, year = {1936}, author = {}, title = {Memorial Exercises in Honor of Lafayette Benedict Mendel.}, journal = {The Yale journal of biology and medicine}, volume = {8}, number = {6}, pages = {559-577}, pmid = {21433690}, issn = {0044-0086}, } @article {pmid21433684, year = {1936}, author = {Smith, AH}, title = {Lafayette Benedict Mendel.}, journal = {The Yale journal of biology and medicine}, volume = {8}, number = {4}, pages = {387-398}, pmid = {21433684}, issn = {0044-0086}, } @article {pmid16652769, year = {1932}, author = {Jones, HA and Bisson, CS}, title = {CHANGES IN THE COMPOSITION OF THE GARDEN PEA AFTER HARVEST.}, journal = {Plant physiology}, volume = {7}, number = {2}, pages = {273-283}, pmid = {16652769}, issn = {0032-0889}, } @article {pmid21433522, year = {1932}, author = {Lusk, G}, title = {To Lafayette B. Mendel.}, journal = {The Yale journal of biology and medicine}, volume = {4}, number = {4}, pages = {369.b1-370}, pmid = {21433522}, issn = {0044-0086}, } @article {pmid20474888, year = {1926}, author = {Stewart, FH}, title = {Mendelian Variation in the Paracolon Mutabile Colon Group and the application of Mendel's Principles to the Theory of Acquired Virulence.}, journal = {The Journal of hygiene}, volume = {25}, number = {3}, pages = {237-255}, pmid = {20474888}, issn = {0022-1724}, } @article {pmid17245933, year = {1919}, author = {Uda, H}, title = {On the Relations between Blood Color and Cocoon Color in Silkworms, with Special Reference to Mendel's Law of Heredity.}, journal = {Genetics}, volume = {4}, number = {5}, pages = {395-416}, pmid = {17245933}, issn = {0016-6731}, } @article {pmid17752783, year = {1903}, author = {Castle, WE}, title = {MENDEL'S LAW OF HEREDITY.}, journal = {Science (New York, N.Y.)}, volume = {18}, number = {456}, pages = {396-406}, doi = {10.1126/science.18.456.396}, pmid = {17752783}, issn = {0036-8075}, abstract = {1. The basic principle in Mendel's discoveries is that of the purity of t. he germcells; in accordance with this a cross-bred animal or plant produces germ-cells bearing only one of each pair of characters in which its parents differ. From it follows the occurrence in the second and later hybrid generations of a definite number of forms in definite numerical proportions. 2. Mendel's principle of dominance is realized in the heredity of a considerable number of characters among both animals and plants. In accordance with this principle, hybrid offspring have visibly the character of only one parent or the other, though they transmit those of both parents. 3. In other cases the hybrid has a distinctive character of its own. This may approximate more or less closely the character of one parent or the other, or it may be entirely different from both. Frequently the distinctive hybrid character resembles a lost ancestral character. In some cases of this sort, as in coat-color of mammals, the hybrid character probably results from a recomibination of the characters seen in one or both parents, with certain Other characters latent (that is, recessive) in one parent or the other. 4. There have been observed the following exceptions to the principle of dominance, or to the principle of purity of the germ-cells, or to both: (a) Mosaic inheritance, in which a pair of characters ordinarily related as dominant and recessive occur in a balanced relationship, side by side in the hybrid individual and frequently in its germ-cells also. This balanced condition, once obtained, is usually stable under close breeding, but is readily disturbed by cross-breeding, giving place then to the normal dominance. (b) Stable (self-perpetuating) hybrid forms result from certain crosses. These constitute an exception to both the law of dominance and to that of purity of the germ-cells. For the hybrid is like neither parent, but the characters of both parents exist in a stable union in the mature germcells produced by the hybrid. (c) Coupling, i. e., complete correlation may exist between two or more characters, so that they form a compound unit not separable in heredity, at least in certain crosses. (d) Disintegration of characters apparently simple may take place in consequence of cross-breeding. (e) Departures from the expected ratios of dominants to recessives may be explained in some cases as due to inferior vigor, and so greater mortality, on the part of dominants or recessives respectively. (f) Cases of apparent reversal of dominance may arise from 'false hybridization' (induced lparthenogenesis). Possibly in other cases the determination of dominance rests with circumstances as yet unknown. 5. Mendel's principles strengthen the view that species arise by discontinuous variation. They explain why new types are especially variable, how one variation causes others, and why certain variations are so persistent in their Occurrence.}, } @article {pmid33699498, year = {1889}, author = {}, title = {Prof. Mendel's Views of the Therapeutic Value of Hypnotism.}, journal = {The Dental register}, volume = {43}, number = {10}, pages = {519-520}, pmid = {33699498}, }