Viewport Size Code:
Login | Create New Account


About | Classical Genetics | Timelines | What's New | What's Hot

About | Classical Genetics | Timelines | What's New | What's Hot


Bibliography Options Menu

Hide Abstracts   |   Hide Additional Links
Long bibliographies are displayed in blocks of 100 citations at a time. At the end of each block there is an option to load the next block.

Bibliography on: Did Mendel Cheat? (related papers)

The Electronic Scholarly Publishing Project: Providing world-wide, free access to classic scientific papers and other scholarly materials, since 1993.


ESP: PubMed Auto Bibliography 08 Dec 2021 at 01:30 Created: 

Did Mendel Cheat? (related papers)

Created with PubMed® Query: 26450195[PMID] OR 17893069[PMID] OR 2085640[PMID] OR 27578843[PMID] OR 15082535[PMID] OR 15082533[PMID] OR 11353700[PMID] OR 17384156[PMID] NOT 32491444 NOT pmcbook NOT ispreviousversion

Citations The Papers (from PubMed®)


RevDate: 2021-11-19

Binmore K (2021)

Knowledge as commitment.

The Behavioral and brain sciences, 44:e144 pii:S0140525X20000709.

This commentary on the paper "Knowledge before belief" argues that it is not only in the cognitive sciences that knowledge should be separated into a separate category from belief, but also in rational decision theory. It outlines how knowledge-as-commitment - as distinct from knowledge-as-belief - can be built into an extension of the economic theory of revealed preference.

RevDate: 2021-10-26

Poczai P, JA Santiago-Blay (2021)

Principles and biological concepts of heredity before Mendel.

Biology direct, 16(1):19.

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?

RevDate: 2021-10-11

Aylward A (2021)

R.A. Fisher, eugenics, and the campaign for family allowances in interwar Britain.

British journal for the history of science pii:S0007087421000674 [Epub ahead of print].

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.

RevDate: 2021-11-04

Francomano CA (2021)

Victor Almon McKusick: In the footsteps of Mendel and Osler.

American journal of medical genetics. Part A, 185(11):3193-3201.

Victor Almon McKusick (VAM) is widely recognized as the father of the field of medical genetics. He established one of the first medical genetics clinics in the United States at Johns Hopkins in 1957 and developed a robust training program with the tripartite mission of education, research, and clinical care. Thousands of clinicians and scientists were educated over the years through the Short Course in Medical and Molecular Genetics, which VAM founded with Dr. Thomas Roderick in 1960. His Online Mendelian Inheritance in Man (OMIM), a catalog of human genes and genetic disorders, serves as the authoritative reference for geneticists around the globe. Throughout his career he was an advocate for mapping the human genome. He collaborated with Dr. Frank Ruddle in founding the International Human Gene Mapping Workshops in the early 70's and was an avid proponent of the Human Genome Project. He was the founding President of the Human Genome Organization and a founding editor of the journal Genomics. His prodigious contributions to the field of medical genetics were recognized by multiple honors, culminating with the Japan Prize in 2008.

RevDate: 2021-11-04

Rasmussen SA, Pomputius A, Amberger JS, et al (2021)

Viewing Victor McKusick's legacy through the lens of his bibliography.

American journal of medical genetics. Part A, 185(11):3212-3223.

Victor McKusick's contributions to the field of medical genetics are legendary and include his contributions as a mentor, as creator of Mendelian Inheritance in Man (now Online Mendelian Inheritance in Man [OMIM®]), and as a leader in the field of medical genetics. McKusick's full bibliography includes 772 publications. Here we review the 453 papers authored by McKusick and indexed in PubMed, from his earliest paper published in the New England Journal of Medicine in 1949 to his last paper published in American Journal of Medical Genetics Part A in 2008. This review of his bibliography chronicles McKusick's evolution from an internist and cardiologist with an interest in genetics to an esteemed leader in the growing field of medical genetics. Review of his bibliography also provides a historical perspective of the development of the discipline of medical genetics. This field came into its own during his lifetime, transitioning from the study of interesting cases and families used to codify basic medical genetics principles to an accredited medical specialty that is expected to transform healthcare. Along the way, he helped to unite the fields of medical and human genetics to focus on mapping the human genome, culminating in completion of the Human Genome Project. This review confirms the critical role played by Victor McKusick as the founding father of medical genetics.

RevDate: 2021-06-22

Liu J (2021)

Giant cells: Linking McClintock's heredity to early embryogenesis and tumor origin throughout millennia of evolution on Earth.

Seminars in cancer biology pii:S1044-579X(21)00177-2 [Epub ahead of print].

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.

RevDate: 2021-10-29

Baverstock K (2021)

The gene: An appraisal.

Progress in biophysics and molecular biology, 164:46-62.

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.

RevDate: 2021-07-07
CmpDate: 2021-07-07

Shirasawa K, Sasaki K, Hirakawa H, et al (2021)

Genomic region associated with pod color variation in pea (Pisum sativum).

G3 (Bethesda, Md.), 11(5):.

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.

RevDate: 2021-08-18
CmpDate: 2021-08-18

Huminiecki Ł (2020)

A Contemporary Message from Mendel's Logical Empiricism.

BioEssays : news and reviews in molecular, cellular and developmental biology, 42(9):e2000120.

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.

RevDate: 2021-04-28
CmpDate: 2021-04-28

López Del Amo V, Leger BS, Cox KJ, et al (2020)

Small-Molecule Control of Super-Mendelian Inheritance in Gene Drives.

Cell reports, 31(13):107841.

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.

RevDate: 2020-08-17
CmpDate: 2020-08-17

Mukamal KJ, Rimm EB, MJ Stampfer (2020)

Reply to: Mendel's laws, Mendelian randomization and causal inference in observational data: substantive and nomenclatural issues.

European journal of epidemiology, 35(7):725-726.

RevDate: 2020-09-28

Sparks RA, Baldwin KE, R Darner (2020)

Using Culturally Relevant Pedagogy to Reconsider the Genetics Canon.

Journal of microbiology & biology education, 21(1):.

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.

RevDate: 2021-03-04
CmpDate: 2021-03-04

Smýkal P, von Wettberg EJB, K McPhee (2020)

Legume Genetics and Biology: From Mendel's Pea to Legume Genomics.

International journal of molecular sciences, 21(9):.

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.

RevDate: 2020-08-24
CmpDate: 2020-08-24

Nivet C (2020)

[Was Gregor Mendel subjected to chores before becoming a monk in 1843?].

Medecine sciences : M/S, 36(1):63-68.

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.

RevDate: 2020-10-02
CmpDate: 2020-10-02

Henshaw JM, AG Jones (2020)

Fisher's lost model of runaway sexual selection.

Evolution; international journal of organic evolution, 74(2):487-494.

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.

RevDate: 2021-07-31
CmpDate: 2021-05-19

Fairbanks DJ (2020)

Mendel and Darwin: untangling a persistent enigma.

Heredity, 124(2):263-273.

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.

RevDate: 2020-04-30
CmpDate: 2020-04-30

Ellis THN, Hofer JMI, Swain MT, et al (2019)

Mendel's pea crosses: varieties, traits and statistics.

Hereditas, 156:33.

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.

RevDate: 2020-05-18
CmpDate: 2020-05-18

Kullmann DM (2019)


Brain : a journal of neurology, 142(7):1847.

RevDate: 2020-01-23
CmpDate: 2020-01-23

Anonymous (2019)

Mendel for the modern era.

Nature genetics, 51(9):1297.

RevDate: 2020-03-20

Kennedy-Shaffer L (2019)

Before p < 0.05 to Beyond p < 0.05: Using History to Contextualize p-Values and Significance Testing.

The American statistician, 73(Suppl 1):82-90.

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.

RevDate: 2020-04-01
CmpDate: 2020-04-01

Hickey J, Gorjanc G, B Hill (2019)

The Fest Issue on Robin Thompson's contributions to statistics, genetics and animal/plant genetic improvement schemes.

Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie, 136(4):229.

RevDate: 2020-02-25
CmpDate: 2019-12-06

Szabó AT, P Poczai (2019)

The emergence of genetics from Festetics' sheep through Mendel's peas to Bateson's chickens.

Journal of genetics, 98(2):.

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.

RevDate: 2021-01-09
CmpDate: 2020-05-29

Hurst LD (2019)

A century of bias in genetics and evolution.

Heredity, 123(1):33-43.

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.

RevDate: 2020-07-10
CmpDate: 2020-07-10

Deichmann U (2019)

From Gregor Mendel to Eric Davidson: Mathematical Models and Basic Principles in Biology.

Journal of computational biology : a journal of computational molecular cell biology, 26(7):637-652.

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.

RevDate: 2020-01-08
CmpDate: 2019-11-25

Wang M, S Xu (2019)

Statistics of Mendelian segregation-A mixture model.

Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie, 136(5):341-350.

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.

RevDate: 2020-07-16
CmpDate: 2020-07-16

Lessard S, WJ Ewens (2019)

The left-hand side of the Fundamental Theorem of Natural Selection: A reply.

Journal of theoretical biology, 472:77-83.

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.

RevDate: 2020-04-01
CmpDate: 2019-05-20

Visscher PM, ME Goddard (2019)

From R.A. Fisher's 1918 Paper to GWAS a Century Later.

Genetics, 211(4):1125-1130.

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.

RevDate: 2020-02-25
CmpDate: 2019-03-26

Hoßfeld U, Levit GS, E Watts (2019)

100 Years of phenogenetics: Valentin Haecker and his examination of the phenotype.

Molecular genetics and genomics : MGG, 294(2):445-456.

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.

RevDate: 2018-12-31
CmpDate: 2018-12-31

Elston RC (2018)

Fisher's influence on me.

Genetic epidemiology, 42(8):849-853.

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.

RevDate: 2018-12-21
CmpDate: 2018-12-21

van Dijk PJ, Weissing FJ, THN Ellis (2018)

How Mendel's Interest in Inheritance Grew out of Plant Improvement.

Genetics, 210(2):347-355.

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.

RevDate: 2019-09-09
CmpDate: 2019-09-09

Choi KR, Ryu JY, SY Lee (2018)

Revisiting Statistical Design and Analysis in Scientific Research.

Small (Weinheim an der Bergstrasse, Germany), 14(40):e1802604.

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.

RevDate: 2018-11-19
CmpDate: 2018-11-19

Thompson EA (2018)

From 1949 to 2018: R. A. Fisher's Theory of Junctions.

Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie, 135(5):335-336.

RevDate: 2019-09-12
CmpDate: 2019-09-12

Liu Y (2018)

Darwin and Mendel: The Historical Connection.

Advances in genetics, 102:1-25.

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.

RevDate: 2019-05-20
CmpDate: 2019-05-20

Deznabi I, Mobayen M, Jafari N, et al (2018)

An Inference Attack on Genomic Data Using Kinship, Complex Correlations, and Phenotype Information.

IEEE/ACM transactions on computational biology and bioinformatics, 15(4):1333-1343.

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.

RevDate: 2019-08-21
CmpDate: 2019-08-21

Assimes TL, PS de Vries (2018)

Making the Most out of Mendel's Laws in Complex Coronary Artery Disease.

Journal of the American College of Cardiology, 72(3):311-313.

RevDate: 2018-09-19
CmpDate: 2018-09-19

Endersby J (2018)

A visit to Biotopia: genre, genetics and gardening in the early twentieth century.

British journal for the history of science, 51(3):423-455.

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.

RevDate: 2018-09-24
CmpDate: 2018-09-24

Toro MA, A Mäki-Tanila (2018)

Some intriguing questions on Fisher's ideas about dominance.

Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie, 135(3):149-150.

RevDate: 2021-01-09
CmpDate: 2018-09-24

Elloumi-Zghal H, H Chaabouni Bouhamed (2018)

Genetics and genomic medicine in Tunisia.

Molecular genetics & genomic medicine, 6(2):134-159.

RevDate: 2018-08-29
CmpDate: 2018-08-29

Hill WG (2018)

Contributions to quantitative genetic models by Yule and by Weinberg prior to Fisher 1918.

Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie, 135(2):93-94.

RevDate: 2018-08-08
CmpDate: 2018-08-08

Thorp JM (Jr) (2017)

Contributions and Limits of Epidemiology in Societal Controversy.

Paediatric and perinatal epidemiology, 31(6):493-494.

RevDate: 2019-06-13
CmpDate: 2019-06-11

Button C (2018)

James Cossar Ewart and the Origins of the Animal Breeding Research Department in Edinburgh, 1895-1920.

Journal of the history of biology, 51(3):445-477.

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.

RevDate: 2020-01-27

Edwards AWF (2019)

Commentary: On R. A. Fisher's paper 'The causes of human variability', 1918.

International journal of epidemiology, 48(1):12-13.

RevDate: 2018-11-13
CmpDate: 2017-12-07

Zhang H, Chen W, K Sun (2017)

Mendelism: New Insights from Gregor Mendel's Lectures in Brno.

Genetics, 207(1):1-8.

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.

RevDate: 2019-11-20

Shropshire JD, A Rokas (2017)

Correction: Heredity: The gene family that cheats Mendel.

eLife, 6:.

RevDate: 2018-11-13
CmpDate: 2017-12-06

Carpenter MA, Shaw M, Cooper RD, et al (2017)

Association mapping of starch chain length distribution and amylose content in pea (Pisum sativum L.) using carbohydrate metabolism candidate genes.

BMC plant biology, 17(1):132.

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.

RevDate: 2018-07-02
CmpDate: 2018-07-02

Rosales A (2017)

Theories that narrate the world: Ronald A. Fisher's mass selection and Sewall Wright's shifting balance.

Studies in history and philosophy of science, 62:22-30.

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."

RevDate: 2019-01-15
CmpDate: 2017-05-26

van Dijk PJ, TH Ellis (2016)

The Full Breadth of Mendel's Genetics.

Genetics, 204(4):1327-1336.

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."

RevDate: 2018-11-13
CmpDate: 2017-02-07

Vollmann J, H Buerstmayr (2016)

From phenotype to genotype: celebrating 150 years of Mendelian genetics in plant breeding research.

TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik, 129(12):2237-2239.

RevDate: 2017-10-11
CmpDate: 2017-05-29

Lynøe N (2016)

[The N-rays were imagined, but the research was no fraud].

Lakartidningen, 113: pii:EA49.

RevDate: 2018-12-02
CmpDate: 2018-04-05

Simunek MV, Mielewczik M, Levit GS, et al (2017)

Armin von Tschermak-Seysenegg (1870-1952): Physiologist and Co-'Rediscoverer' of Mendel's laws.

Theory in biosciences = Theorie in den Biowissenschaften, 136(1-2):59-67.

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.

RevDate: 2018-12-02
CmpDate: 2017-02-08

Hoßfeld U, Jacobsen HJ, Plass C, et al (2017)

150 years of Johann Gregor Mendel's "Versuche über Pflanzen-Hybriden".

Molecular genetics and genomics : MGG, 292(1):1-3.

RevDate: 2018-01-11
CmpDate: 2018-01-11

Abbott S, DJ Fairbanks (2016)

Experiments on Plant Hybrids by Gregor Mendel.

Genetics, 204(2):407-422.

RevDate: 2019-01-12
CmpDate: 2017-05-23

Fairbanks DJ, S Abbott (2016)

Darwin's Influence on Mendel: Evidence from a New Translation of Mendel's Paper.

Genetics, 204(2):401-405.

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.

RevDate: 2020-03-06
CmpDate: 2017-02-07

Smýkal P, K Varshney R, K Singh V, et al (2016)

From Mendel's discovery on pea to today's plant genetics and breeding : Commemorating the 150th anniversary of the reading of Mendel's discovery.

TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik, 129(12):2267-2280.

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.

RevDate: 2018-11-13
CmpDate: 2017-02-07

Bicknell R, Catanach A, Hand M, et al (2016)

Seeds of doubt: Mendel's choice of Hieracium to study inheritance, a case of right plant, wrong trait.

TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik, 129(12):2253-2266.

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.

RevDate: 2017-11-08
CmpDate: 2017-07-28

Weeden NF (2016)

Are Mendel's Data Reliable? The Perspective of a Pea Geneticist.

The Journal of heredity, 107(7):635-646.

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.

RevDate: 2019-11-13
CmpDate: 2018-02-05

Traykov M, I Trenchev (2016)

Mathematical models in genetics.

Genetika, 52(9):1089-1096.

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.

RevDate: 2019-03-08
CmpDate: 2018-07-12

Wink K, A Otte (2016)

[Serendipities in medicine].

MMW Fortschritte der Medizin, 158 Suppl 5:14-18.

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.

RevDate: 2020-10-01
CmpDate: 2016-08-09

Cohen JI, IG Loskutov (2016)

Exploring the nature of science through courage and purpose: a case study of Nikolai Vavilov and plant biodiversity.

SpringerPlus, 5(1):1159.

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.

RevDate: 2018-12-02
CmpDate: 2016-06-27

Torres TT (2016)

Genetics teaching: Carry on celebrating Mendel's legacy.

Nature, 534(7608):475.

RevDate: 2019-12-10
CmpDate: 2017-01-17

Paleček P (2016)

Vítězslav Orel (1926-2015): Gregor Mendel's biographer and the rehabilitation of genetics in the Communist Bloc.

History and philosophy of the life sciences, 38(3):4.

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.

RevDate: 2017-02-23
CmpDate: 2017-02-23

Gayon J (2016)

From Mendel to epigenetics: History of genetics.

Comptes rendus biologies, 339(7-8):225-230.

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.

RevDate: 2017-02-23
CmpDate: 2017-02-23

Prunet N, EM Meyerowitz (2016)

Genetics and plant development.

Comptes rendus biologies, 339(7-8):240-246.

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.

RevDate: 2019-12-10
CmpDate: 2017-03-21

Singh RS (2016)

Science beyond boundary: are premature discoveries things of the past?.

Genome, 59(6):433-437.

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.

RevDate: 2019-01-10
CmpDate: 2016-10-11

Opitz JM, Pavone L, G Corsello (2016)

The power of stories in Pediatrics and Genetics.

Italian journal of pediatrics, 42:35.

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.

RevDate: 2016-02-15
CmpDate: 2016-03-18

Sótonyi G (2015)

[Participation of Hungarians in the Elaboration of Principles of Genetics and of Biotehchnology].

Orvostorteneti kozlemenyek, 61(1-4):125-136.

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).

RevDate: 2018-11-13
CmpDate: 2017-06-29

Kleinman K (2016)

"Bringing Taxonomy to the Service of Genetics": Edgar Anderson and Introgressive Hybridization.

Journal of the history of biology, 49(4):603-624.

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.

RevDate: 2018-11-13
CmpDate: 2016-09-05

Sun S, Deng D, Wang Z, et al (2016)

A novel er1 allele and the development and validation of its functional marker for breeding pea (Pisum sativum L.) resistance to powdery mildew.

TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik, 129(5):909-919.

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.

RevDate: 2018-11-13
CmpDate: 2016-01-20

De Castro M (2016)

Johann Gregor Mendel: paragon of experimental science.

Molecular genetics & genomic medicine, 4(1):3-8.

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.

RevDate: 2016-01-10
CmpDate: 2016-01-07

Richter FC (2015)

Remembering Johann Gregor Mendel: a human, a Catholic priest, an Augustinian monk, and abbot.

Molecular genetics & genomic medicine, 3(6):483-485 pii:MGG3186.

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).

RevDate: 2018-11-13
CmpDate: 2016-01-07

Hart PS, M Muenke (2015)

Foreword to volume 3, issue 6.

Molecular genetics & genomic medicine, 3(6):481-482.

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.

RevDate: 2018-12-02
CmpDate: 2016-08-11

Rosenberg NA (2016)

Admixture Models and the Breeding Systems of H. S. Jennings: A GENETICS Connection.

Genetics, 202(1):9-13.

RevDate: 2017-01-17
CmpDate: 2017-01-17

Meunier R (2016)

The many lives of experiments: Wilhelm Johannsen, selection, hybridization, and the complex relations of genes and characters.

History and philosophy of the life sciences, 38(1):42-64.

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.

RevDate: 2018-12-02
CmpDate: 2016-07-28

Liu Y, X Li (2016)

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".

Genome, 59(1):75-77.

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".

RevDate: 2018-12-02
CmpDate: 2018-03-27

Edwards AW (2016)

Analysing nature's experiment: Fisher's inductive theorem of natural selection.

Theoretical population biology, 109:1-5.

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.

RevDate: 2018-12-02
CmpDate: 2016-01-05

Pai-Dhungat JV (2015)

John Gregor Mendel (1822-1884).

The Journal of the Association of Physicians of India, 63(3):60-61.

RevDate: 2015-10-09
CmpDate: 2015-11-03

Radick G (2015)

HISTORY OF SCIENCE. Beyond the "Mendel-Fisher controversy".

Science (New York, N.Y.), 350(6257):159-160.

RevDate: 2018-11-13
CmpDate: 2016-06-02

Yang T, Fang L, Zhang X, et al (2015)

High-Throughput Development of SSR Markers from Pea (Pisum sativum L.) Based on Next Generation Sequencing of a Purified Chinese Commercial Variety.

PloS one, 10(10):e0139775.

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.

RevDate: 2015-09-26
CmpDate: 2015-12-22

Birchler JA (2015)

Mendel, mechanism, models, marketing, and more.

Cell, 163(1):9-11.

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.

RevDate: 2015-09-20
CmpDate: 2015-09-21

Anonymous (2015)

Special issue in honor of John James on the occasion of his 80th birthday.

Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie, 132(2):85-203.

RevDate: 2016-10-20
CmpDate: 2016-07-27

Singh RS (2015)

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.

Genome, 58(9):415-421.

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.

RevDate: 2015-08-18
CmpDate: 2015-11-05

Chadov BF, Fedorova NB, EV Chadova (2015)

Conditional mutations in Drosophila melanogaster: On the occasion of the 150th anniversary of G. Mendel's report in Brünn.

Mutation research. Reviews in mutation research, 765:40-55.

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.

RevDate: 2018-12-02
CmpDate: 2015-11-05

Dronamraju K (2015)

J.B.S. Haldane as I knew him, with a brief account of his contribution to mutation research.

Mutation research. Reviews in mutation research, 765:1-6.

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.

RevDate: 2018-12-02
CmpDate: 2015-12-02

Gardner A (2015)

More on the genetical theory of multilevel selection.

Journal of evolutionary biology, 28(9):1747-1751.

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.

RevDate: 2018-12-02
CmpDate: 2016-07-07

Wood RJ (2015)

Darbishire expands his vision of heredity from Mendelian genetics to inherited memory.

Studies in history and philosophy of biological and biomedical sciences, 53:16-39.

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.

RevDate: 2015-07-03
CmpDate: 2016-02-09

Nicholas FW, A Mäki-Tanila (2015)

An important anniversary: 150 years since Mendel's laws of inheritance made their first public appearance.

Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie, 132(4):277-280.

RevDate: 2018-12-03
CmpDate: 2017-03-07

Tanghe KB (2015)

Mendel at the sesquicentennial of 'Versuche über Pflanzen-Hybriden' (1865): The root of the biggest legend in the history of science.

Endeavour, 39(2):106-115.

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.

RevDate: 2020-09-30
CmpDate: 2016-04-20

Perbal L (2015)

The case of the gene: Postgenomics between modernity and postmodernity.

EMBO reports, 16(7):777-781.

RevDate: 2020-03-06
CmpDate: 2015-12-28

Durmaz AA, Karaca E, Demkow U, et al (2015)

Evolution of genetic techniques: past, present, and beyond.

BioMed research international, 2015:461524.

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.

RevDate: 2018-11-13
CmpDate: 2016-01-20

Burstin J, Salloignon P, Chabert-Martinello M, et al (2015)

Genetic diversity and trait genomic prediction in a pea diversity panel.

BMC genomics, 16:105.

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.

RevDate: 2015-12-14
CmpDate: 2015-12-08

Hand DJ (2015)

From evidence to understanding: a commentary on Fisher (1922) 'On the mathematical foundations of theoretical statistics'.

Philosophical transactions. Series A, Mathematical, physical, and engineering sciences, 373(2039):.

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.

RevDate: 2015-02-19
CmpDate: 2015-03-04

Matalová A, E Matalová (2015)

Plant genetics: Czech centre marks Mendel anniversary.

Nature, 518(7539):303.

RevDate: 2018-11-13
CmpDate: 2015-01-28

Opitz JM, DW Bianchi (2015)

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.

Molecular genetics & genomic medicine, 3(1):1-7.

RevDate: 2016-10-20
CmpDate: 2015-03-24

Wanjin X, M Morigen (2015)

Understanding the cellular and molecular mechanisms of dominant and recessive inheritance in genetics course.

Yi chuan = Hereditas, 37(1):98-108.

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.

RevDate: 2018-12-02
CmpDate: 2015-02-10

Fölster S (2014)

[Criticism without evidence, symptomatic of the health care debate].

Lakartidningen, 111(38):1584.

RevDate: 2018-12-02
CmpDate: 2017-10-30

Visscher PM, NR Wray (2015)

Concepts and Misconceptions about the Polygenic Additive Model Applied to Disease.

Human heredity, 80(4):165-170.

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.

RevDate: 2014-12-24
CmpDate: 2015-02-10

Teicher A (2014)

Mendel's use of mathematical modelling: ratios, predictions and the appeal to tradition.

History and philosophy of the life sciences, 36(2):187-208.

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.

RevDate: 2021-10-21
CmpDate: 2015-09-28

Parolini G (2015)

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 of the history of biology, 48(2):301-335.

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.

RevDate: 2018-12-02
CmpDate: 2014-09-02

Bonnemain B (2014)

[Fraud and pharmacist: an old companionship from Antiquity to nowadays].

Revue d'histoire de la pharmacie, 62(382):175-184.

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.

RevDate: 2021-10-21
CmpDate: 2015-01-14

Roll-Hansen N (2014)

The holist tradition in twentieth century genetics. Wilhelm Johannsen's genotype concept.

The Journal of physiology, 592(11):2431-2438.

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.


ESP Quick Facts

ESP Origins

In the early 1990's, Robert Robbins was a faculty member at Johns Hopkins, where he directed the informatics core of GDB — the human gene-mapping database of the international human genome project. To share papers with colleagues around the world, he set up a small paper-sharing section on his personal web page. This small project evolved into The Electronic Scholarly Publishing Project.

ESP Support

In 1995, Robbins became the VP/IT of the Fred Hutchinson Cancer Research Center in Seattle, WA. Soon after arriving in Seattle, Robbins secured funding, through the ELSI component of the US Human Genome Project, to create the original ESP.ORG web site, with the formal goal of providing free, world-wide access to the literature of classical genetics.

ESP Rationale

Although the methods of molecular biology can seem almost magical to the uninitiated, the original techniques of classical genetics are readily appreciated by one and all: cross individuals that differ in some inherited trait, collect all of the progeny, score their attributes, and propose mechanisms to explain the patterns of inheritance observed.

ESP Goal

In reading the early works of classical genetics, one is drawn, almost inexorably, into ever more complex models, until molecular explanations begin to seem both necessary and natural. At that point, the tools for understanding genome research are at hand. Assisting readers reach this point was the original goal of The Electronic Scholarly Publishing Project.

ESP Usage

Usage of the site grew rapidly and has remained high. Faculty began to use the site for their assigned readings. Other on-line publishers, ranging from The New York Times to Nature referenced ESP materials in their own publications. Nobel laureates (e.g., Joshua Lederberg) regularly used the site and even wrote to suggest changes and improvements.

ESP Content

When the site began, no journals were making their early content available in digital format. As a result, ESP was obliged to digitize classic literature before it could be made available. For many important papers — such as Mendel's original paper or the first genetic map — ESP had to produce entirely new typeset versions of the works, if they were to be available in a high-quality format.

ESP Help

Early support from the DOE component of the Human Genome Project was critically important for getting the ESP project on a firm foundation. Since that funding ended (nearly 20 years ago), the project has been operated as a purely volunteer effort. Anyone wishing to assist in these efforts should send an email to Robbins.

ESP Plans

With the development of methods for adding typeset side notes to PDF files, the ESP project now plans to add annotated versions of some classical papers to its holdings. We also plan to add new reference and pedagogical material. We have already started providing regularly updated, comprehensive bibliographies to the ESP.ORG site.

Electronic Scholarly Publishing
961 Red Tail Lane
Bellingham, WA 98226

E-mail: RJR8222 @

Papers in Classical Genetics

The ESP began as an effort to share a handful of key papers from the early days of classical genetics. Now the collection has grown to include hundreds of papers, in full-text format.

Digital Books

Along with papers on classical genetics, ESP offers a collection of full-text digital books, including many works by Darwin (and even a collection of poetry — Chicago Poems by Carl Sandburg).


ESP now offers a much improved and expanded collection of timelines, designed to give the user choice over subject matter and dates.


Biographical information about many key scientists.

Selected Bibliographies

Bibliographies on several topics of potential interest to the ESP community are now being automatically maintained and generated on the ESP site.

ESP Picks from Around the Web (updated 07 JUL 2018 )