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Bibliography on: Did Mendel Cheat? (related papers)

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Did Mendel Cheat? (related papers)

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Citations The Papers (from PubMed®)


RevDate: 2022-10-11
CmpDate: 2022-10-07

Yang T, Liu R, Luo Y, et al (2022)

Improved pea reference genome and pan-genome highlight genomic features and evolutionary characteristics.

Nature genetics, 54(10):1553-1563.

Complete and accurate reference genomes and annotations provide fundamental resources for functional genomics and crop breeding. Here we report a de novo assembly and annotation of a pea cultivar ZW6 with contig N50 of 8.98 Mb, which features a 243-fold increase in contig length and evident improvements in the continuity and quality of sequence in complex repeat regions compared with the existing one. Genome diversity of 118 cultivated and wild pea demonstrated that Pisum abyssinicum is a separate species different from P. fulvum and P. sativum within Pisum. Quantitative trait locus analyses uncovered two known Mendel's genes related to stem length (Le/le) and seed shape (R/r) as well as some candidate genes for pod form studied by Mendel. A pan-genome of 116 pea accessions was constructed, and pan-genes preferred in P. abyssinicum and P. fulvum showed distinct functional enrichment, indicating the potential value of them as pea breeding resources in the future.

RevDate: 2022-11-08

Cheng S (2022)

Gregor Mendel: The father of genetics who opened a biological world full of wonders.

Molecular plant, 15(11):1641-1645.

RevDate: 2022-09-28

Vyskot B, J Siroky (2022)

Bicentennial of Gregor Johann Mendel's birth: Mendel's work still addresses geneticists in 2022.

Frontiers in plant science, 13:969745.

RevDate: 2022-09-12

Sussmilch FC, Ross JJ, JB Reid (2022)

Mendel: from Genes to Genome.

Plant physiology pii:6696226 [Epub ahead of print].

Two hundred years after the birth of Gregor Mendel, it is an appropriate time to reflect on recent developments in the discipline of genetics, particularly advances relating to the prescient friar's model species, the garden pea (Pisum sativum L.). Mendel's study of seven characteristics established the laws of segregation and independent assortment. The genes underlying four of Mendel's loci (A, LE, I and R) have been characterised at the molecular level for over a decade. However, the three remaining genes, influencing pod colour (GP), pod form (V/P) and the position of flowers (FA/FAS), have remained elusive for a variety of reasons, including a lack of detail regarding the loci with which Mendel worked. Here we discuss potential candidate genes for these characteristics, in light of recent advances in the genetic resources for pea. These advances, including the pea genome sequence and reverse-genetics techniques, have revitalised pea as an excellent model species for physiological-genetic studies. We also discuss the issues that have been raised with Mendel's results, such as the recent controversy regarding the discrete nature of the characters that Mendel chose and the perceived overly-good fit of his segregations to his hypotheses. We also consider the relevance of these controversies to his lasting contribution. Finally, we discuss the use of Mendel's classical results to teach and enthuse future generations of geneticists, not only regarding the core principles of the discipline, but also its history and the role of hypothesis testing.

RevDate: 2022-08-22

Belkoniene M (2022)

The rational dimension of understanding.

Synthese, 200(5):349.

It is natural to regard understanding as having a rational dimension, in the sense that understanding seems to require having justification for holding certain beliefs about the world. Some philosophers however argue that justification is not required to gain understanding of phenomena. In the present paper, my intention is to provide a critical examination of the arguments that have been offered against the view that understanding requires justification in order to show that, contrary to what they purport to establish, justification remains a plausible requirement on understanding.

RevDate: 2022-10-05
CmpDate: 2022-10-05

Rushton AR (2022)

Cambridge geneticists and the chromosome theory of inheritance: William Bateson, Leonard Doncaster and Reginald Punnett 1879-1940.

Annals of science, 79(4):468-496.

Early in the 20th century Bateson, Doncaster and Punnett formed a cooperative collective to share research findings on the chromosome theory of heredity (CTH). They cross-bred plants and animals to correlate behaviour of chromosomes and heredity of individual traits. Doncaster was the most enthusiastic proponent of the new theory and worked for years to convince Bateson and Punnett on its relevance to their own research. The two younger biologists collaborated with Bateson, the preeminent geneticist in England. As their own reputations developed, their research findings allied with the consensus on the importance of the CTH by the broader scientific community. After Doncaster's tragic death in 1920, major objections to the theory had been resolved; Bateson and Punnett then utilized the CTH to construct chromosome maps detailing locations of specific genes on particular chromosomes in several different species. The marriage of heredity and cytology enhanced confidence that the theory was an accurate mechanism to explain inheritance in both plants and animals.

RevDate: 2022-08-17
CmpDate: 2022-08-01

Clarke J, PLOS Biology Staff Editors (2022)

Mendel's legacy in modern genetics.

PLoS biology, 20(7):e3001760.

A new collection of articles celebrating the bicentennial of Gregor Mendel's birth discuss his life, work and legacy in modern-day genetic research.

RevDate: 2022-10-04
CmpDate: 2022-07-28

Poczai P, JA Santiago-Blay (2022)

Themes of Biological Inheritance in Early Nineteenth Century Sheep Breeding as Revealed by J. M. Ehrenfels.

Genes, 13(8):.

Among the so-called sheep breeders interested in biological inheritance in the late eighteenth and early nineteenth centuries and well before Gregor Johann Mendel, J. M. Ehrenfels (1767-1843) produced some of the most cogent writings on the subject. Although earlier in his career Ehrenfels was a strong advocate of environmental factors as influencers on the appearance of organisms, as a result of his discussions with Imre Festetics, he became convinced that whatever is passed from parents to progeny is more important and it is dependent on a "genetic force, the mother of all living things". The sheep breeders kept issues of inheritance at the forefront of the Central European cultural context late into the nineteenth century.

RevDate: 2022-09-14

Charlesworth B, Goddard ME, Meyer K, et al (2022)

Author Correction: From Mendel to quantitative genetics in the genome era: the scientific legacy of W. G. Hill.

Nature genetics, 54(9):1448.

RevDate: 2022-09-07
CmpDate: 2022-07-22

Stenseth NC, Andersson L, HE Hoekstra (2022)

Gregor Johann Mendel and the development of modern evolutionary biology.

Proceedings of the National Academy of Sciences of the United States of America, 119(30):e2201327119.

RevDate: 2022-09-07
CmpDate: 2022-07-22

Barton NH (2022)

The "New Synthesis".

Proceedings of the National Academy of Sciences of the United States of America, 119(30):e2122147119.

When Mendel's work was rediscovered in 1900, and extended to establish classical genetics, it was initially seen in opposition to Darwin's theory of evolution by natural selection on continuous variation, as represented by the biometric research program that was the foundation of quantitative genetics. As Fisher, Haldane, and Wright established a century ago, Mendelian inheritance is exactly what is needed for natural selection to work efficiently. Yet, the synthesis remains unfinished. We do not understand why sexual reproduction and a fair meiosis predominate in eukaryotes, or how far these are responsible for their diversity and complexity. Moreover, although quantitative geneticists have long known that adaptive variation is highly polygenic, and that this is essential for efficient selection, this is only now becoming appreciated by molecular biologists-and we still do not have a good framework for understanding polygenic variation or diffuse function.

RevDate: 2022-09-07
CmpDate: 2022-07-22

Hoekstra HE, GE Robinson (2022)

Behavioral genetics and genomics: Mendel's peas, mice, and bees.

Proceedings of the National Academy of Sciences of the United States of America, 119(30):e2122154119.

The question of the heritability of behavior has been of long fascination to scientists and the broader public. It is now widely accepted that most behavioral variation has a genetic component, although the degree of genetic influence differs widely across behaviors. Starting with Mendel's remarkable discovery of "inheritance factors," it has become increasingly clear that specific genetic variants that influence behavior can be identified. This goal is not without its challenges: Unlike pea morphology, most natural behavioral variation has a complex genetic architecture. However, we can now apply powerful genome-wide approaches to connect variation in DNA to variation in behavior as well as analyses of behaviorally related variation in brain gene expression, which together have provided insights into both the genetic mechanisms underlying behavior and the dynamic relationship between genes and behavior, respectively, in a wide range of species and for a diversity of behaviors. Here, we focus on two systems to illustrate both of these approaches: the genetic basis of burrowing in deer mice and transcriptomic analyses of division of labor in honey bees. Finally, we discuss the troubled relationship between the field of behavioral genetics and eugenics, which reminds us that we must be cautious about how we discuss and contextualize the connections between genes and behavior, especially in humans.

RevDate: 2022-09-07
CmpDate: 2022-07-22

Berry A, J Browne (2022)

Mendel and Darwin.

Proceedings of the National Academy of Sciences of the United States of America, 119(30):e2122144119.

Evolution by natural selection is an explicitly genetic theory. Darwin recognized that a working theory of inheritance was central to his theory and spent much of his scientific life seeking one. The seeds of his attempt to fill this gap, his "provisional hypothesis" of pangenesis, appear in his notebooks when he was first formulating his evolutionary ideas. Darwin, in short, desperately needed Mendel. In this paper, we set Mendel's work in the context of experimental biology and animal/plant breeding of the period and review both the well-known story of possible contact between Mendel and Darwin and the actual contact between their ideas after their deaths. Mendel's contributions to evolutionary biology were fortuitous. Regardless, it is Mendel's work that completed Darwin's theory. The modern theory based on the marriage between Mendel's and Darwin's ideas as forged most comprehensively by R. A. Fisher is both Darwin's achievement and Mendel's.

RevDate: 2022-09-07
CmpDate: 2022-07-22

Hartl DL (2022)

Gregor Johann Mendel: From peasant to priest, pedagogue, and prelate.

Proceedings of the National Academy of Sciences of the United States of America, 119(30):e2121953119.

Gregor Mendel was an Augustinian priest in the Monastery of St. Thomas in Brünn (Brno, Czech Republic) as well as a civilian employee who taught natural history and physics in the Brünn Modern School. The monastery's secular function was to provide teachers for the public schools across Moravia. It was a cultural, educational, and artistic center with an elite core of friar-teachers with a well-stocked library and other amenities including a gourmet kitchen. It was wealthy, with far-flung holdings yielding income from agricultural productions. Mendel had failed his tryout as a parish priest and did not complete his examination for teaching certification despite 2 y of study at the University of Vienna. In addition to his teaching and religious obligations, Mendel carried out daily meteorological and astronomical observations, cared for the monastery's fruit orchard and beehives, and tended plants in the greenhouse and small outdoor gardens. In the years 1856 to 1863, he carried out experiments on heredity of traits in garden peas regarded as revolutionary today but not widely recognized during his lifetime and until 16 y after his death. In 1868 he was elected abbot of the monastery, a significantly elevated position in the ecclesiastical and civil hierarchy. While he had hoped to be elected, and was honored to accept, he severely underestimated its administrative responsibilities and gradually had to abandon his scientific interests. The last decade of his life was marred by an ugly dispute with civil authorities over monastery taxation.

RevDate: 2022-07-21
CmpDate: 2022-07-21

Anonymous (2022)

The true legacy of Gregor Mendel: careful, rigorous and humble science.

Nature, 607(7919):421-422.

RevDate: 2022-08-17
CmpDate: 2022-07-21

Matalova E (2022)

Johann Gregor Mendel: Born to be a scientist?.

PLoS biology, 20(7):e3001703.

Johann Gregor Mendel, born 200 years ago, was supposed to be a farmer, intended to be a teacher, became a priest, turned to being a researcher, and later became a world famous scientist associated with genetics. Here, we look into his life through his own words.

RevDate: 2022-07-25
CmpDate: 2022-07-21

Zanders SE (2022)

What can we learn from selfish loci that break Mendel's law?.

PLoS biology, 20(7):e3001700.

Exceptions to Mendel's law of segregation were important for demonstrating that chromosomes carry genetic material. Scrutiny of additional exceptions to Mendel's law caused by selfish genes has the potential to unravel other unsolved mysteries of genetics.

RevDate: 2022-08-17
CmpDate: 2022-07-21

Mackay TFC, RRH Anholt (2022)

Gregor Mendel's legacy in quantitative genetics.

PLoS biology, 20(7):e3001692.

Gregor Mendel's discovery of the laws of segregation and independent assortment and his inference of the existence of non-mendelian interactions between loci remain at the heart of today's explorations of the genetic architecture of quantitative traits.

RevDate: 2022-08-17
CmpDate: 2022-07-21

McLysaght A (2022)

The deceptive simplicity of mendelian genetics.

PLoS biology, 20(7):e3001691.

Mendel, a genius experimentalist, meticulously uncovered the genetic basis of heredity in work that transformed the science of biology. But does the alluring simplicity of Mendel's laws sometimes obscure the true complexity of genetics?

RevDate: 2022-07-15
CmpDate: 2022-07-15

Anonymous (2022)

Mendel, memories and meaning.

Nature genetics, 54(7):907.

RevDate: 2022-10-20
CmpDate: 2022-07-15

van Dijk PJ, Jessop AP, THN Ellis (2022)

How did Mendel arrive at his discoveries?.

Nature genetics, 54(7):926-933.

There are few historical records concerning Gregor Johann Mendel and his work, so theories abound concerning his motivation. These theories range from Fisher's view that Mendel was testing a fully formed previous theory of inheritance to Olby's view that Mendel was not interested in inheritance at all, whereas textbooks often state his motivation was to understand inheritance. In this Perspective, we review current ideas about how Mendel arrived at his discoveries and then discuss an alternative scenario based on recently discovered historical sources that support the suggestion that Mendel's fundamental research on the inheritance of traits emerged from an applied plant breeding program. Mendel recognized the importance of the new cell theory; understanding of the formation of reproductive cells and the process of fertilization explained his segregation ratios. This interest was probably encouraged by his friendship with Johann Nave, whose untimely death preceded Mendel's first 1865 lecture by a few months. This year is the 200th anniversary of Mendel's birth, presenting a timely opportunity to revisit the events in his life that led him to undertake his seminal research. We review existing ideas on how Mendel made his discoveries, before presenting more recent evidence.

RevDate: 2022-10-21
CmpDate: 2022-07-13

Wolf JB, Ferguson-Smith AC, A Lorenz (2022)

Mendel's laws of heredity on his 200th birthday: What have we learned by considering exceptions?.

Heredity, 129(1):1-3.

RevDate: 2022-07-16

Bland JS (2022)

Functional Medicine Past, Present, and Future.

Integrative medicine (Encinitas, Calif.), 21(2):22-26.

Embedded within the Functional Medicine model is the potential for reversibility of altered function. This perspective is inherently different from the Mendelian concept of genetics, which is grounded in the construct of dominate and recessive genetic characteristics. Mendel's work was obviously groundbreaking, but it has also contributed to a deterministic mindset about disease. Many people-even today-believe that health and disease are locked into the genes of every individual. Modern genomic research continues to reveal that the concept of genetic determinism can be (and should be) challenged. The functional interaction of our lifestyle, diet, environment, behavior, and social structure with our genome and epigenome greatly determines our health outcomes. It has been discovered that our aging epigenome can even be rejuvenated. The epigenomic structure is also a powerful predictor of disease outcome and life expectancy. As our understanding of genetic and epigenetic expression patterns grows, the implications for personalized Functional Medicine intervention programs are truly revolutionary.

RevDate: 2022-06-07

Poczai P, Santiago-Blay JA, Sekerák J, et al (2022)

Mimush Sheep and the Spectre of Inbreeding: Historical Background for Festetics's Organic and Genetic Laws Four Decades Before Mendel's Experiments in Peas.

Journal of the history of biology [Epub ahead of print].

The upheavals of late eighteenth century Europe encouraged people to demand greater liberties, including the freedom to explore the natural world, individually or as part of investigative associations. The Moravian Agricultural and Natural Science Society, organized by Christian Carl André, was one such group of keen practitioners of theoretical and applied scientific disciplines. Headquartered in the "Moravian Manchester" Brünn (nowadays Brno), the centre of the textile industry, society members debated the improvement of sheep wool to fulfil the needs of the Habsburg armies fighting in the Napoleonic Wars. Wool, as the raw material of soldiers' clothing, could influence the war's outcome. During the early nineteenth century, wool united politics, economics, and science in Brno, where breeders and natural scientists investigated the possibilities of increasing wool production. They regularly discussed how "climate" or "seed" characteristics influenced wool quality and quantity. Breeders and academics put their knowledge into immediate practice to create sheep with better wool traits through consanguineous matching of animals and artificial selection. This apparent disregard for the incest taboo, however, was viewed as violating natural laws and cultural norms. The debate intensified between 1817 and 1820, when a Hungarian veteran soldier, sheep breeder, and self-taught natural scientist, Imre (Emmerich) Festetics, displayed his inbred Mimush sheep, which yielded wool extremely well suited for the fabrication of light but strong garments. Members of the Society questioned whether such "bastard sheep" would be prone to climatic degeneration, should be regarded as freaks of nature, or could be explained by natural laws. The exploration of inbreeding in sheep began to be distilled into hereditary principles that culminated in 1819 with Festetics's "laws of organic functions" and "genetic laws of nature," four decades before Gregor Johann Mendel's seminal work on heredity in peas.

RevDate: 2022-06-22
CmpDate: 2022-06-22

Nasmyth K (2022)

The magic and meaning of Mendel's miracle.

Nature reviews. Genetics, 23(7):447-452.

July 2022 will see the bicentenary of the birth of Gregor Mendel, often hailed as the 'father of modern genetics'. To mark the occasion, I retrace Mendel's origins, revisit his famous study 'Experiments in plant hybridization', and reflect on the revolutionary implications of his work and scientific legacy that continues to shape modern biomedicine to this day.

RevDate: 2022-06-22
CmpDate: 2022-06-22

Zschocke J, Byers PH, AOM Wilkie (2022)

Gregor Mendel and the concepts of dominance and recessiveness.

Nature reviews. Genetics, 23(7):387-388.

RevDate: 2022-08-19
CmpDate: 2022-07-07

Eckardt NA, Birchler JA, BC Meyers (2022)

Focus on plant genetics: Celebrating Gregor Mendel's 200th birth anniversary.

The Plant cell, 34(7):2453-2454.

RevDate: 2022-10-23
CmpDate: 2022-07-13

Fairbanks DJ (2022)

Demystifying the mythical Mendel: a biographical review.

Heredity, 129(1):4-11.

Gregor Mendel is widely recognised as the founder of genetics. His experiments led him to devise an enduring theory, often distilled into what are now known as the principles of segregation and independent assortment. Although he clearly articulated these principles, his theory is considerably richer, encompassing the nature of fertilisation, the role of hybridisation in evolution, and aspects often considered as exceptions or extensions, such as pleiotropy, incomplete dominance, and epistasis. In an admirable attempt to formulate a more expansive theory, he researched hybridisation in at least twenty plant genera, intentionally choosing some species whose inheritance he knew would deviate from the patterns he observed in the garden pea (Pisum sativum). Regrettably, he published the results of only a few of these additional experiments; evidence of them is largely confined to letters he wrote to Carl von Nägeli. Because most original documentation is lost or destroyed, scholars have attempted to reconstruct his history and achievements from fragmentary evidence, a situation that has led to unfortunate omissions, errors, and speculations. These range from historical uncertainties, such as what motivated his experiments, to unfounded suppositions regarding his discoveries, including assertions that he never articulated the principles ascribed to him, staunchly opposed Darwinism, fictitiously recounted experiments, and falsified data to better accord with his theory. In this review, I have integrated historical and scientific evidence within a biographical framework to dispel misconceptions and provide a clearer and more complete view of who Mendel was and what he accomplished.

RevDate: 2022-09-10
CmpDate: 2022-04-13

Cheng A, Harikrishna JA, Redwood CS, et al (2022)

Genetics Matters: Voyaging from the Past into the Future of Humanity and Sustainability.

International journal of molecular sciences, 23(7):.

The understanding of how genetic information may be inherited through generations was established by Gregor Mendel in the 1860s when he developed the fundamental principles of inheritance. The science of genetics, however, began to flourish only during the mid-1940s when DNA was identified as the carrier of genetic information. The world has since then witnessed rapid development of genetic technologies, with the latest being genome-editing tools, which have revolutionized fields from medicine to agriculture. This review walks through the historical timeline of genetics research and deliberates how this discipline might furnish a sustainable future for humanity.

RevDate: 2022-04-01
CmpDate: 2022-03-30

Zhang H, Zhao X, Zhao F, et al (2022)

Mendel's controlled pollination experiments in Mirabilis jalapa confirmed his discovery of the gamete theory of inheritance in Pisum.

Hereditas, 159(1):19.

The historian studies revealed during Mendel's later research period when mainly focusing on the constant hybrid in Hieracium, he had to be intervened to conduct the controlled pollination experiments in Mirabilis jalapa. Two letters to Nageli recorded the experimental aim was to disprove Darwin's opinion regarding three pollen grains required for one fertilization (note: that could completely destroy his previous discovery of segregation inheritance in variable hybrid in Pisum, for it was expressed in a mathematical equation). The experimental results of single pollen grain pollination confirmed the referenced view of one pollen cell uniting one egg cell in plant fertilization; the further pedigree introduction of the single and of the designed two pollen grain experiment succeeded in exemplifying that one hereditary factor carried by one gamete (pollen cell or egg cell) can independently transmit a trait to offspring. Here we coined the observation as the Gamete Theory of Inheritance. Remarkably, in contrast with the bulked pollination experiment, in this system, Mendel could easily manipulate a hereditary factor by merely taking a gamete as a carrier. Then, Mendel's work in M. jalapa together with the previous Pisum study was able to jointly suppport his second lecture content that regarded "gamete formation, fertilization, and seed development" and also regarded hereditary factors in the processes. All in all, the 1866 paper was published during a rapid burst of interest in hybrid species likely induced by Darwin, and Mendel's attempts at accommodation of the two incompatible inheritances of segregation in variable hybrids versus of nonsegregation in constant hybrids might be responsible for some historical controversies when understanding his discovery of inheritance.

RevDate: 2022-06-02
CmpDate: 2022-05-31

Radick G (2022)

Mendel the fraud? A social history of truth in genetics.

Studies in history and philosophy of science, 93:39-46.

Two things about Gregor Mendel are common knowledge: first, that he was the "monk in the garden" whose experiments with peas in mid-nineteenth-century Moravia became the starting point for genetics; second, that, despite that exalted status, there is something fishy, maybe even fraudulent, about the data that Mendel reported. Although the notion that Mendel's numbers were, in statistical terms, too good to be true was well understood almost immediately after the famous "rediscovery" of his work in 1900, the problem became widely discussed and agonized over only from the 1960s, for reasons having as much to do with Cold War geopolitics as with traditional concerns about the objectivity of science. Appreciating the historical origins of the problem as we have inherited it can be a helpful step in shifting the discussion in more productive directions, scientific as well as historiographic.

RevDate: 2022-05-31
CmpDate: 2022-04-25

Lerdau M (2022)

The complicated legacy of E. O. Wilson with respect to genetics and human behavior.

BioEssays : news and reviews in molecular, cellular and developmental biology, 44(5):e2200034.

Over the arc of his career, E. O. Wilson first embraced, then popularized, and finally rejected an extreme genetical hereditarian view of human nature. The controversy that ensued during the period of popularization (largely in the 1970s and 1980s) obscured the fact that empirical and theoretical research during this time undercut the assumptions necessary for this view. By the end of his career, Wilson accepted the fact that individual/kin selection models were insufficient to explain human behavior and society, and he began conducting research based upon multilevel (group) selection, an idea he had previously scorned.

RevDate: 2022-08-19
CmpDate: 2022-07-07

Berger F (2022)

Which field of research would Gregor Mendel choose in the 21st century?.

The Plant cell, 34(7):2462-2465.

Gregor Mendel's work on segregation of traits in plants established the basic methodology and rules of genetics. The interruption of Mendel's research activities in 1870 impeded the immediate recognition of the value of his work until the dawn of the 20th century. Only then were his founding laws of genetics validated, propelling the development of biological research toward the birth of molecular biology in the second half of the 20th century. While molecular plant genetics can be viewed as the spiritual heir of Mendel's research, one might wonder whether in the 21st century Gregor Mendel would prefer to practice scientific approaches other than molecular genetics such as population genetics, comparative genomics, or the emerging field of evo-chromo. In this perspective, I review aspects of these fields that might have attracted or perplexed a 21st century Mendel.

RevDate: 2022-08-19
CmpDate: 2022-07-07

Mittelsten Scheid O (2022)

Mendelian and non-Mendelian genetics in model plants.

The Plant cell, 34(7):2455-2461.

The "Mendelian Rules" of inheritance are cornerstones of genetics, described in Mendel's seminal publication from 1866. The experimental results and their interpretation have been discussed in numerous ways. This perspective emphasizes the contribution of Mendel's preparations prior to his crossing experiments to the discovery of Mendelian genetics. This thoughtful experimental design, and some fortune, avoided pitfalls that could have resulted in non-Mendelian inheritance.

RevDate: 2022-01-28

Huminiecki Ł (2021)

Virtual Gene Concept and a Corresponding Pragmatic Research Program in Genetical Data Science.

Entropy (Basel, Switzerland), 24(1):.

Mendel proposed an experimentally verifiable paradigm of particle-based heredity that has been influential for over 150 years. The historical arguments have been reflected in the near past as Mendel's concept has been diversified by new types of omics data. As an effect of the accumulation of omics data, a virtual gene concept forms, giving rise to genetical data science. The concept integrates genetical, functional, and molecular features of the Mendelian paradigm. I argue that the virtual gene concept should be deployed pragmatically. Indeed, the concept has already inspired a practical research program related to systems genetics. The program includes questions about functionality of structural and categorical gene variants, about regulation of gene expression, and about roles of epigenetic modifications. The methodology of the program includes bioinformatics, machine learning, and deep learning. Education, funding, careers, standards, benchmarks, and tools to monitor research progress should be provided to support the research program.

RevDate: 2022-05-02
CmpDate: 2022-05-02

Kendler KS (2022)

The beginnings of biometrical psychiatric genetics: Studies of the insane diathesis 1905-1909.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, 189(1-2):6-15.

The year 1900 saw not only the rediscovery of Mendel's hybridization studies but also the publication by Karl Pearson of his newly developed tetrachoric correlation which he used to study the parent-offspring resemblance for the "insane diathesis" in 1905. This was followed by more detailed reports by two of his students/associates: Heron in 1907 and Goring in 1909. Both calculated the tetrachoric correlation for insanity in parent-offspring and Heron for sib-sib pairs. Estimates ranged from approximately +0.30 to +0.60. These papers were statistically sophisticated but demonstrated minimal interest in the phenotype being studied. They are of historical interest because they laid the groundwork for biometrical psychiatric genetics which emerged as a major research paradigm in latter third of the 20th century. In a biting critique of Heron's paper by a young Ernst Rüdin, we see the beginnings of a long-running argument in psychiatric genetics about the relative value of detailed phenotyping versus novel statistical methods and of Mendelian versus Biometrical methods. While much interest has focused on the eugenic orientation of German psychiatric genetics in the early 20th century, these early British biometrical geneticists, like the majority of geneticists of that day, were also ardent advocates of the eugenic application of their research results.

RevDate: 2022-01-13
CmpDate: 2022-01-13

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: 2021-12-28
CmpDate: 2021-12-28

Aylward A (2021)

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

British journal for the history of science, 54(4):485-505.

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: 2022-01-27
CmpDate: 2022-01-27

Dason JS, Anreiter I, CF Wu (2021)

Transcending boundaries: from quantitative genetics to single genes.

Journal of neurogenetics, 35(3):95-98.

RevDate: 2022-04-05
CmpDate: 2022-04-05

Shan Y (2021)

Beyond Mendelism and Biometry.

Studies in history and philosophy of science, 89:155-163.

Historiographical analyses of the development of genetics in the first decade of the 20th century have been to a great extent framed in the context of the Mendelian-Biometrician controversy. Much has been discussed on the nature, origin, development, and legacy of the controversy. However, such a framework is becoming less useful and fruitful. This paper challenges the traditional historiography framed by the Mendelian-Biometrician distinction. It argues that the Mendelian-Biometrician distinction fails to reflect the theoretical and methodological diversity in the controversy. It also argues that the Mendelian-Biometrician distinction is not helpful to make a full understanding of the development of genetics in the first decade of the twentieth century.

RevDate: 2022-05-20
CmpDate: 2022-04-13

Liu J (2022)

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

Seminars in cancer biology, 81:176-192.

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: 2021-11-25
CmpDate: 2021-11-25

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: 2022-04-12
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: 2022-03-09
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: 2022-03-10
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.


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 )