@article {pmid39768593, year = {2024}, author = {Lee, Y and Seo, JH}, title = {Potential Causal Association Between Atrial Fibrillation/Flutter and Primary Open-Angle Glaucoma: A Two-Sample Mendelian Randomisation Study.}, journal = {Journal of clinical medicine}, volume = {13}, number = {24}, pages = {}, pmid = {39768593}, issn = {2077-0383}, support = {no. VHSMC24002//Veterans Health Service Medical Centre/ ; no. 2022R1C1C1002929//National Research Foundation of Korea/ ; }, abstract = {Background: A few studies have reported controversial relationships between atrial fibrillation/flutter (AF/L) and primary open-angle glaucoma (POAG). This study aimed to investigate the potential causal relationship between AF/L and POAG. Methods: Single-nucleotide polymorphisms associated with exposure to AF/L were selected as instrumental variables with significance (p < 5.0 × 10-8) from a genome-wide association study (GWAS) by FinnGen. The GWAS summary of POAG from the UK Biobank was used as the outcome dataset. A two-sample Mendelian randomisation (MR) study was performed to assess the causal effects of AF/L on POAG. In addition, potential confounders, including hypertension, autoimmune hyperthyroidism, sleep apnoea, and alcohol use disorder, were assessed using multivariable MR analysis. Results: There was a significant causal association of AF/L with POAG (odds ratio [OR] = 1.26, 95% confidence interval [CI] = 1.07-1.48, p = 0.005 using inverse-variance weighting [IVW]). Multivariable MR analysis confirmed a causal association of AF/L with POAG (OR = 1.24, 95% CI = 1.02-1.51, p = 0.034 using IVW), but hypertension, hyperthyroidism, sleep apnoea and alcohol use disorder did not show significant causal associations with POAG (all p > 0.05). Conclusions: This established causal relationship between AF/L and POAG supports the need for further investigation into the role of AF/L as a possible risk factor for POAG. Further research is required to confirm these findings.}, }
@article {pmid39474926, year = {2024}, author = {Liu, S and Li, Q and Chen, P and Wang, Y and Ge, X and Wang, F and Zhou, M and Xu, J and Zhu, Y and Miao, L and Deng, X}, title = {Association between dietary tea consumption and non-alcoholic fatty liver disease: a study based on Mendelian randomisation and National Health and Nutrition Examination Survey (2005-2018) association between tea and non-alcoholic fatty liver disease.}, journal = {The British journal of nutrition}, volume = {}, number = {}, pages = {1-11}, doi = {10.1017/S0007114524002277}, pmid = {39474926}, issn = {1475-2662}, abstract = {Tea can improve the progression of some metabolic diseases through anti-inflammatory and antioxidant effects, but its impact on non-alcoholic fatty liver disease (NAFLD) is still controversial. The aim of this paper is to identify the relationship between tea and NAFLD by Mendelian randomisation (MR) and complete clinical validation using National Health and Nutrition Examination Survey (NHANES) database. MR used data from Genome Wide Association Study, with inverse-variance weighted (IVW) as principal analytical methods. The reliability of the results was verified by a series of sensitivity and heterogeneity tests. Subsequently, clinical validation was conducted using NHANES (2005-2018), involving 22 257 participants, grouped by the type of tea. Green tea drinkers were categorised into four groups (Q1-Q4) by quartiles of green tea intake, from lowest to highest (similar for black tea drinkers and other tea drinkers). Models were constructed by logistic regression to estimate the role of tea consumption (Q1-4) on NAFLD. Finally, using fibrosis-4 index (FIB-4) to evaluate the severity of hepatic fibrosis, the effect of tea consumption (Q1-4) on the degree of hepatic fibrosis was investigated by linear regression. IVW method (OR = 0·43, 95 % CI: 0·21, 0·85, P = 0·01) and weighted median method (OR = 0·35, 95 % CI: 0·14, 0·91, P = 0·03) revealed there was a causal relationship between tea and NAFLD. An array of sensitivity analyses validated the reliability of results. Analysis of NHANES indicated tea drinker present a slightly lower prevalence of NAFLD than non-tea drinker (green tea drinkers: 47·6 %, black tea drinkers: 46·3 %, other tea drinker: 43·2 %, non-tea drinkers: 48·1 %, P < 0·05). After adjusting for confounders, compared with the lowest black tea consumption (Q1), the population with the highest black tea consumption (Q4) was independently related to lower presence of NAFLD (Q4: OR = 0·69, 95 % CI: 0·50, 0·93, P < 0·05), such association remained stable in the overweight subgroup. As further analysed, Q4 also displayed a significant negative correlation with the level of hepatic fibrosis in patients with NAFLD (β = -0·073, 95 % CI: -0·126, -0·020, P < 0·01).Tea reduces the morbidity of NAFLD and ameliorates hepatic fibrosis degree in those already suffering from the disease.}, }
@article {pmid38672220, year = {2024}, author = {Seo, JH and Lee, Y}, title = {Possible Causal Association between Type 2 Diabetes and Glycaemic Traits in Primary Open-Angle Glaucoma: A Two-Sample Mendelian Randomisation Study.}, journal = {Biomedicines}, volume = {12}, number = {4}, pages = {}, pmid = {38672220}, issn = {2227-9059}, support = {2022R1C1C1002929//National Research Foundation of Korea/ ; }, abstract = {Existing literature suggests a controversial relationship between type 2 diabetes mellitus (T2D) and glaucoma. This study aimed to examine the potential causal connection between T2D and glycaemic traits (fasting glucose [FG] and glycated haemoglobin [HbA1c] levels) as exposures to primary open-angle glaucoma (POAG) in multi-ethnic populations. Single-nucleotide polymorphisms associated with exposure to T2D, FG, and HbA1c were selected as instrumental variables with significance (p < 5.0 × 10[-8]) from the genome-wide association study (GWAS)-based meta-analysis data available from the BioBank Japan and the UK Biobank (UKB). The GWAS for POAG was obtained from the meta-analyses of Genetic Epidemiology Research in Adult Health and Aging and the UKB. A two-sample Mendelian randomisation (MR) study was performed to assess the causal estimates using the inverse-variance weighted (IVW) method, and MR-Pleiotropy Residual Sum and Outlier test (MR-PRESSO). Significant causal associations of T2D (odds ratio [OR] = 1.05, 95% confidence interval [CI] = [1.00-1.10], p = 0.031 in IVW; OR = 1.06, 95% CI = [1.01-1.11], p = 0.017 in MR-PRESSO) and FG levels (OR = 1.19, 95% CI = [1.02-1.38], p = 0.026 in IVW; OR = 1.17, 95% CI = [1.01-1.35], p = 0.041 in MR-PRESSO) with POAG were observed, but not in HbA1c (all p > 0.05). The potential causal relationship between T2D or FG and POAG highlights its role in the prevention of POAG. Further investigation is necessary to authenticate these findings.}, }
@article {pmid38651149, year = {2024}, author = {Zhu, L and Zhang, H and Zhang, X and Chen, R and Xia, L}, title = {Drug repositioning and ovarian cancer, a study based on Mendelian randomisation analysis.}, journal = {Frontiers in oncology}, volume = {14}, number = {}, pages = {1376515}, pmid = {38651149}, issn = {2234-943X}, abstract = {BACKGROUND: The role of drug repositioning in the treatment of ovarian cancer has received increasing attention. Although promising results have been achieved, there are also major controversies.<br><br>METHODS: In this study, we conducted a drug-target Mendelian randomisation (MR) analysis to systematically investigate the reported effects and relevance of traditional drugs in the treatment of ovarian cancer. The inverse-variance weighted (IVW) method was used in the main analysis to estimate the causal effect. Several MR methods were used simultaneously to test the robustness of the results.<br><br>RESULTS: By screening 31 drugs with 110 targets, FNTA, HSPA5, NEU1, CCND1, CASP1, CASP3 were negatively correlated with ovarian cancer, and HMGCR, PLA2G4A, ITGAL, PTGS1, FNTB were positively correlated with ovarian cancer.<br><br>CONCLUSION: Statins (HMGCR blockers), lonafarnib (farnesyltransferase inhibitors), the anti-inflammatory drug aspirin, and the anti-malarial drug adiponectin all have potential therapeutic roles in ovarian cancer treatment.}, }
@article {pmid36094356, year = {2022}, author = {Sussmilch, FC and Ross, JJ and Reid, JB}, title = {Mendel: From genes to genome.}, journal = {Plant physiology}, volume = {190}, number = {4}, pages = {2103-2114}, pmid = {36094356}, issn = {1532-2548}, mesh = {*Pisum sativum/genetics ; *Flowers/genetics ; }, 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 characterized at the molecular level for over a decade. However, the three remaining genes, influencing pod color (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 revitalized 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 {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 {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 {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 ; Pisum sativum ; 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 {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 ; Pisum sativum/*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 χ[2] 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 {pmid31502561, year = {2019}, author = {Kasbekar, DP}, title = {A cross-eyed geneticist's view IV. Neurospora genes and inversions collude to cheat Mendel.}, journal = {Journal of biosciences}, volume = {44}, number = {4}, pages = {}, pmid = {31502561}, issn = {0973-7138}, mesh = {Alleles ; *Chromosome Inversion ; Crosses, Genetic ; Exons ; Fungal Proteins/genetics ; *Gene Silencing ; Genetic Techniques ; Genome, Fungal ; Heterozygote ; Meiosis ; *Models, Genetic ; Neurospora crassa/*genetics ; Sequence Analysis, DNA ; Spores, Fungal ; }, }
@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 {pmid29880691, year = {2018}, author = {Yu, X and Zhao, Z and Zheng, X and Zhou, J and Kong, W and Wang, P and Bai, W and Zheng, H and Zhang, H and Li, J and Liu, J and Wang, Q and Zhang, L and Liu, K and Yu, Y and Guo, X and Wang, J and Lin, Q and Wu, F and Ren, Y and Zhu, S and Zhang, X and Cheng, Z and Lei, C and Liu, S and Liu, X and Tian, Y and Jiang, L and Ge, S and Wu, C and Tao, D and Wang, H and Wan, J}, title = {A selfish genetic element confers non-Mendelian inheritance in rice.}, journal = {Science (New York, N.Y.)}, volume = {360}, number = {6393}, pages = {1130-1132}, doi = {10.1126/science.aar4279}, pmid = {29880691}, issn = {1095-9203}, mesh = {Crosses, Genetic ; Evolution, Molecular ; *Genomic Instability ; Germ Cells, Plant ; Hybridization, Genetic ; Open Reading Frames/genetics ; Oryza/*genetics ; *Plant Infertility ; Pollen/genetics ; *Quantitative Trait Loci ; *Repetitive Sequences, Nucleic Acid ; }, abstract = {Selfish genetic elements are pervasive in eukaryote genomes, but their role remains controversial. We show that qHMS7, a major quantitative genetic locus for hybrid male sterility between wild rice (Oryza meridionalis) and Asian cultivated rice (O. sativa), contains two tightly linked genes [Open Reading Frame 2 (ORF2) and ORF3]. ORF2 encodes a toxic genetic element that aborts pollen in a sporophytic manner, whereas ORF3 encodes an antidote that protects pollen in a gametophytic manner. Pollens lacking ORF3 are selectively eliminated, leading to segregation distortion in the progeny. Analysis of the genetic sequence suggests that ORF3 arose first, followed by gradual functionalization of ORF2 Furthermore, this toxin-antidote system may have promoted the differentiation and/or maintained the genome stability of wild and cultivated rice.}, }
@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 {pmid28631611, year = {2017}, author = {Shropshire, JD and Rokas, A}, title = {The gene family that cheats Mendel.}, journal = {eLife}, volume = {6}, number = {}, pages = {}, pmid = {28631611}, issn = {2050-084X}, mesh = {Alleles ; Meiosis ; *Poisons ; Schizosaccharomyces/*genetics ; Spores, Fungal ; }, abstract = {Some alleles of the wtf gene family can increase their chances of spreading by using poisons to kill other alleles, and antidotes to save themselves.}, }
@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 &amp; numerical data ; Chi-Square Distribution ; Data Interpretation, Statistical ; Evaluation Studies as Topic ; Genetic Variation ; Genetics/*history/statistics &amp; numerical data ; History, 19th Century ; Pisum sativum/genetics ; Scientific Misconduct/*history/statistics &amp; numerical data ; }, }
@article {pmid24830502, year = {2014}, author = {Grognet, P and Lalucque, H and Malagnac, F and Silar, P}, title = {Genes that bias Mendelian segregation.}, journal = {PLoS genetics}, volume = {10}, number = {5}, pages = {e1004387}, pmid = {24830502}, issn = {1553-7404}, mesh = {Alleles ; Chromosome Segregation/*genetics ; Crosses, Genetic ; Fungal Proteins/*genetics ; Meiosis/*genetics ; Podospora/*genetics ; Spores, Fungal ; }, abstract = {Mendel laws of inheritance can be cheated by Meiotic Drive Elements (MDs), complex nuclear genetic loci found in various eukaryotic genomes and distorting segregation in their favor. Here, we identify and characterize in the model fungus Podospora anserina Spok1 and Spok2, two MDs known as Spore Killers. We show that they are related genes with both spore-killing distorter and spore-protecting responder activities carried out by the same allele. These alleles act as autonomous elements, exert their effects independently of their location in the genome and can act as MDs in other fungi. Additionally, Spok1 acts as a resistance factor to Spok2 killing. Genetical data and cytological analysis of Spok1 and Spok2 localization during the killing process suggest a complex mode of action for Spok proteins. Spok1 and Spok2 belong to a multigene family prevalent in the genomes of many ascomycetes. As they have no obvious cellular role, Spok1 and Spok2 Spore Killer genes represent a novel kind of selfish genetic elements prevalent in fungal genome that proliferate through meiotic distortion.}, }
@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 {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 {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 {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 ; Pisum sativum/*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 ; Pisum sativum/*genetics ; Seeds/genetics ; }, }
@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 {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 {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 {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 {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 {pmid1909864, year = {1991}, author = {Crow, JF}, title = {Why is Mendelian segregation so exact?.}, journal = {BioEssays : news and reviews in molecular, cellular and developmental biology}, volume = {13}, number = {6}, pages = {305-312}, doi = {10.1002/bies.950130609}, pmid = {1909864}, issn = {0265-9247}, mesh = {Alleles ; Animals ; Drosophila melanogaster/genetics ; Female ; Gene Frequency ; Genes ; Genes, Lethal ; Male ; *Meiosis ; Models, Genetic ; Selection, Genetic ; Sex Ratio ; Zea mays/genetics ; }, abstract = {The precise 1:1 segregation of Mendelian heredity is ordinarily taken for granted, yet there are numerous examples of 'cheating' genes that perpetuate themselves in the population by biasing the Mendelian process in their favor. One example is the Segregation Distortion system of Drosophila melanogaster, in which the distorting gene causes its homologous chromosome to produce a nonfunctional sperm. This system depends on three closely linked components, whose molecular basis is beginning to be understood. The system is characterized by numerous modifiers changing the degree of distortion. Mathematical theory shows that unlinked modifiers that change the degree of distortion in the direction of Mendelism always increase in the population. This provides a mechanism for removing cheaters and preserving the honesty of the Mendelian gene-shuffle.}, }
@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 {pmid11621982, year = {1989}, author = {Olby, R}, title = {The dimensions of scientific controversy: the biometric--Mendelian debate.}, journal = {British journal for the history of science}, volume = {22}, number = {74 Pt 3}, pages = {299-320}, doi = {10.1017/s0007087400026170}, pmid = {11621982}, issn = {0007-0874}, mesh = {Genetics/*history ; History, Modern 1601- ; }, }
@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 {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 {pmid16592600, year = {1978}, author = {Samuelson, PA}, title = {Generalizing Fisher's "reproductive value": "Incipient" and "penultimate" reproductive-value functions when environment limits growth; linear approximants for nonlinear Mendelian mating models.}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, volume = {75}, number = {12}, pages = {6327-6331}, pmid = {16592600}, issn = {0027-8424}, abstract = {In the usual Darwinian case in which struggle for existence leads to density limitations on the environment's carrying capacity, R. A. Fisher's reproductive-value concept reduces to zero for every initial age group. To salvage some meaning for Fisher's notion, two variant reproductive-value concepts are defined here: an "incipient reproductive-value function," applicable to a system's early dilute stage when density effects are still ignorable; and a "second-order penultimate reproductive-value function," linking to a system's initial conditions near equilibrium its much later small deviations from carrying-capacity equilibrium. Also, slowly changing age-structured mortality and fertility parameters of Lotka and Mendelian mating systems are shown to suggest linear reproductive-value surrogates that provide approximations for truly nonlinear diploid and haploid models.}, }
@article {pmid11609929, year = {1976}, author = {Norton, B and Pearson, ES}, title = {A note on the background to, and refereeing of, R. A. Fisher's 1918 paper 'On the correlation between relatives on the supposition of Mendelian inheritance'.}, journal = {Notes and records of the Royal Society of London}, volume = {31}, number = {1}, pages = {151-162}, doi = {10.1098/rsnr.1976.0005}, pmid = {11609929}, issn = {0035-9149}, mesh = {*Demography ; Genetics/*history ; History, Modern 1601- ; Statistics as Topic/*history ; United Kingdom ; }, }
@article {pmid11610080, year = {1975}, author = {Farrall, LA}, title = {Controversy and conflict in science: a case study--the English biometric school and Mendel's laws.}, journal = {Social studies of science}, volume = {5}, number = {3}, pages = {269-301}, doi = {10.1177/030631277500500302}, pmid = {11610080}, issn = {0306-3127}, mesh = {*Demography ; Genetics/*history ; History, Modern 1601- ; Statistics as Topic/*history ; United Kingdom ; }, }