Laws Of Heredity Research Articles

Mendel's closet: genetics, eugenics and the exceptions of sex in Edwardian Britain

This article situates formative Mendelian and chromosomal precepts and rhetoric as an integral part of ‘reproductive’ physiology and the broader sexological terrain in Edwardian Britain. Alongside the discovery of ‘internal secretions’ (hormones), the discovery of the sex chromosomes, made around the same time as the rediscovery of Mendel's laws of heredity at the turn of the twentieth century, transformed the ways in which questions about sex determination and sex development were considered. Approaches were diverse as leading biologists including William Bateson, Leonard Doncaster, Reginald Crundall Punnett, Geoffrey Watkins Smith and their interlocutors negotiated the multiple, often conflicting, sociopolitical interpretations, uses and abuses that Mendelian approaches to sex were amenable to. Most contentiously, it was recognized that any credible model of sex biology had to account for all manner of sex phenomena, including parthenogenesis, intersexualities and transformations of sex, and that it was the variations of sex that best provided insights into the otherwise hidden mechanisms that shaped sex characteristics. Such a move, however, embroiled the new sexological genetics and the developing discipline of ‘reproductive’ physiology with vexed debates about feminism, homosexuality and eugenics. The article charts how the ensuing tensions played out across scholarly and popular platforms, including Britain's newspapers.

Analysis of Trio Half Sibling Testing.

To establish an analytical method for half sibling testing involving common three relatives' participation. Based on the half sibling testing scenarios with the known biological mother, grandfather or uncle, and two unidentified controversial half siblings participating, two opposing hypotheses were set. Lineage reconstruction according to Mendel's law of heredity was carried out, and the calculation formula of the half sibling kinship index was derived. Verification of actual cases was carried out and the results were compared with duo half sibling testing. In the scenarios of the known biological mother, grandfather and uncle participating in half sibling testing, the kinship calculation formulae of 54, 91 and 99 genotype combinations for kinship index calculation were deduced respectively. The actual cases showed higher kinship indexes in trio half sibling testing compared with duo half sibling testing. It is beneficial to obtain more genetic information for family reconstruction and improvement of the strength of genetic evidence for half sibling testing by adding known relatives.

Fragile, unfaithful and persistent Ys—on how meiosis can shape sex chromosome evolution

Sex-linked inheritance is a stark exception to Mendel’s Laws of Heredity. Here we discuss how the evolution of heteromorphic sex chromosomes (mainly the Y) has been shaped by the intricacies of the meiotic programme. We propose that persistence of Y chromosomes in distantly related mammalian phylogroups can be explained in the context of pseudoautosomal region (PAR) size, meiotic pairing strategies, and the presence of Y-borne executioner genes that regulate meiotic sex chromosome inactivation. We hypothesise that variation in PAR size can be an important driver for the evolution of recombination frequencies genome wide, imposing constraints on Y fate. If small PAR size compromises XY segregation during male meiosis, the stress of producing aneuploid gametes could drive function away from the Y (i.e., a fragile Y). The Y chromosome can avoid fragility either by acquiring an achiasmatic meiotic XY pairing strategy to reduce aneuploid gamete production, or gain meiotic executioner protection (a persistent Y). Persistent Ys will then be under strong pressure to maintain high recombination rates in the PAR (and subsequently genome wide), as improper segregation has fatal consequences for germ cells. In the event that executioner protection is lost, the Y chromosome can be maintained in the population by either PAR rejuvenation (extension by addition of autosome material) or gaining achiasmatic meiotic pairing, the alternative is Y loss. Under this dynamic cyclic evolutionary scenario, understanding the meiotic programme in vertebrate and invertebrate species will be crucial to further understand the plasticity of the rise and fall of heteromorphic sex chromosomes.

ЭЛЕКТИВНЫЙ КУРС «ЗНАКОМСТВО С МИРОМ СЛУЧАЙНОСТЕЙ И СТАТИСТИЧЕСКИХ ЗАКОНОМЕРНОСТЕЙ» В ЦИФРОЙ СРЕДЕ КАК СРЕДСТВО РАЗВИТИЯ СТОХАСТИЧЕСКОГО МИРОВОЗЗРЕНИЯ СТАРШЕКЛАССНИКОВ

The article considers the main provisions describing the features of the introduction and implementation of the elective course on stochasticity for high school students of secondary schools. The stochastic line of the school mathematics course for 10-11 grades is aimed at identifying general patterns, assessing the probabilistic nature of real-world dependences, defining phenomena of random nature, processing statistical data, constructing distributions of random variables, using the law of large numbers and probabilistic sampling method of measurement. The expediency of developing this elective course is due to the importance of knowledge of probability theory for both completing the Unified State Exam in Mathematics and preparing for university studies. The article argues that students who have mastered the methods of measuring and evaluating the phenomena associated with the concept of chance achieve high individual results. As part of the elective course and working in the digital environment, students learn how to use probabilistic and statistical methods to solve problems effectively, the focus of which is conditioned by the establishment of interdisciplinary links with biology, physics, chemistry, astronomy, etc. (for example, the study of Mendel's laws of heredity, Brownian motion (random motion of physical particles), Gibbs' rule, etc.). Skills and abilities obtained help students better understand variability and uncertainty inherent in social and natural processes, transfer their knowledge to new conditions and to new tasks, accumulate personal worldview experience. Thanks to this, high school students have a positive attitude towards a chance and its manifestations, perceive the surrounding reality more objectively. According to the results of the elective course implementation pupils have stable cognitive motives for the cognition of the stochastic component in the environment, deep subject knowledge, which conditions the development of motivational, value, cognitive and activity constructs of stochastic world-view.

Metabolic Pathway of Hereditary Cancer Disease from PPI-network of DEGS Detected using Mean-of-Mean Method

Uncontrolled growth of cells often results Cancer disease in human body. When it is eventually transmitted throughout the generations in a family, it is referred to as hereditary diseases. Metabolic pathway explains several chemical reactions occurred for growth of a disease and KEGG pathway analysis identifies key genes involved with that disease. At first, differentially expressed genes (DEGs) are detected from cancer gene microarray time series datasets using a new and simple method, Mean of Mean (MoM). The MoM concept is developed from Gregor Johann Mendel's First Law of Heredity or Segregation rule of heredity. Highly expressed (HG) and lowly expressed (LG) genes in two different groups of microarray dataset are identified first using MoM. Then DEGs are found by implementing intersection operation between HG and LG genes. Performance of MoM method is analyzed by Support Vector Machine classifiers (SVMs) on some binary class cancer microarray data samples. Then all results are compared with the performance of other statistical parametric and nonparametric hypothetic tests. It is noticed that performance ofMoMis better than other statistical methods in almost all data sets. Finally, Protein-Protein Interaction Networks (PPINs) are constructed within identified DEGs using web based tool. Lastly, KEGG pathway analysis is performed for all proteins involved in PPINs to obtain list of key genes for growth of cancer disease.

Medical Bacteriology and Medical Genetics, 1880–1940: A Call for Synthesis

Between 1880 and 1920 the medical quest to unearth the causes of disease saw two pathbreaking discoveries. One was the bacteriological revolution – the identification of specific germs as causal agents of specific diseases (anthrax, tuberculosis, diphtheria, cholera and so on), and the simultaneous effort to develop disinfection techniques and immunisation measures to combat these diseases. The other was the rediscovery of Mendel’s laws of heredity and the resulting emergence of medical genetics, where an entire set of medical maladies (deafness, blindness, bodily deformities, haemophilia, Huntington’s chorea, feeble-mindedness and many mental diseases) were identified – rightly or wrongly – as genetically determined. The ‘germ theory of disease’ and the ‘gene theory of disease’ shared striking, all-too-often overlooked similarities. Both theories built on shared epistemological assumptions that influenced their explanatory mechanisms and their overall conceptual frameworks; both mobilised similar visual and linguistic vocabulary; both appropriated – and enforced – prevailing cultural and gender norms; and both enshrined broadly parallel hygienic practices. Reflecting similar social concerns, medical bacteriology and medical genetics acquired kindred scientific and societal configurations, which this paper highlights and scrutinises.

Effects of induced levels of prior knowledge on monitoring accuracy and performance when learning from self-regulated problem solving.

Both accurate monitoring and adequate control are crucial for effective self-regulation when learning from problem-solving tasks. Prior research has shown that self-regulated learning is especially harmful for low prior knowledge students, given their difficulties with accurate monitoring and control decisions. Although many studies have indicated that prior knowledge facilitates monitoring accuracy, none of these studies experimentally manipulated students’ prior knowledge. The purpose of the current study was to investigate whether experimentally induced levels of prior knowledge affect the accuracy of metacognitive judgments (i.e., ease-of-learning judgments [EOLs], and retrospective confidence judgments [RCJs]) when learning from problem-solving tasks, and whether this in turn moderates the effect of learner control on performance. To manipulate prior knowledge, we compared conditions in which undergraduate students (N = 165) watched either a video about Mendel’s biography (low prior knowledge) or a video about Mendel’s laws of heredity (high prior knowledge). After that, we presented students with a set of problem-solving tasks and manipulated the type of learner control between conditions (i.e., full control vs. restricted control over the selection of tasks). Results indicated that students with high induced prior knowledge were more accurate in their EOLs and RCJs, and achieved higher performance than students with low prior knowledge. However, monitoring accuracy did not moderate the effects of different types of learner control on performance, even though students used their RCJs as a basis for the task selections. These results suggest that monitoring accuracy is a prerequisite for successful self-regulated problem solving, but it is not sufficient. (PsycInfo Database Record (c) 2020 APA, all rights reserved)

Why Did the Nazis Sterilize the Blind? Genetics and the Shaping of the Sterilization Law of 1933

AbstractThe introduction of blindness into the Sterilization Law passed by the Nazis in July 1933, was exceptional, even by the standards of the time. Prior sterilization bills had focused on mental and nervous disorders, and they almost always excluded blindness as a category. The wish to sterilize the blind cannot be explained solely as stemming from the eugenic or economic threat that they allegedly posed to German society; such threats were acknowledged to be marginal, and they paled in comparison to the perceived menace attributed to the so-called feeble-minded and mentally ill. What made blindness of special significance for Nazi lawmakers was its disciplinary status among geneticists as an indisputable demonstration of the validity of the laws of heredity to human maladies. Together with two additional disease categories—deafness and Huntington's chorea—blindness provided Nazi legislators with scientific legitimization that helped pave the way for the sterilization of the mentally ill. For the blind, it was therefore not the fanaticism of the Nazis but rather their aspiration to ground their policy in biological teaching that ultimately proved fateful.

The production of a physiological puzzle: how Cytisus adami confused and inspired a century\u2019s botanists, gardeners, and evolutionists

‘Adam’s laburnum’ (or Cytisus adami), produced by accident in 1825 by Jean-Louis Adam, a nurseryman in Vitry, became a commercial success within the plant trade for its striking mix of yellow and purple flowers. After it came to the attention of members of La Société d’Horticulture de Paris, the tree gained enormous fame as a potential instance of the much sought-after ‘graft hybrid’, a hypothetical idea that by grafting one plant onto another, a mixture of the two could be produced. As I show in this paper, many eminent botanists and gardeners, including Charles Darwin, both experimented with Adam’s laburnum and argued over how it might have been produced and what light, if any, it shed on the laws of heredity. Despite Jean-Louis Adam’s position and status as a nurseryman active within the Parisian plant trade, a surprising degree of doubt and scepticism was attached to his testimony on how the tree had been produced in his nursery. This doubt, I argue, helps us to trace the complex negotiations of authority that constituted debates over plant heredity in the early 19th century and that were introduced with a new generation of gardening and horticultural periodicals.

「遺伝」の学習の取り扱いに関する日独比較研究 : メンデルの法則を中心として

「遺伝」の学習の取り扱いに関する日独比較研究 : メンデルの法則を中心として

ファストプランツとメダカの遺伝教材としてのコラボレーション効果に関する研究 : 「遺伝の規則性と遺伝子」単元での「分離の法則」の授業実践及び教員研修

ファストプランツとメダカの遺伝教材としてのコラボレーション効果に関する研究 : 「遺伝の規則性と遺伝子」単元での「分離の法則」の授業実践及び教員研修

The Text and the Living: Jacques Derrida between Biology and Deconstruction

This paper gives an account of work in progress on ‘Derrida and Biology’ that takes its point of departure from Derrida's unpublished seminar La vie la mort (1975), the first six sessions of which are devoted to biology and, in particular, to the work of François Jacob, a genetic biologist known for his research on the DNA structure and the laws of heredity in the organization and evolution of the living. This seminar shows that Derrida's engagement with biology is already at work in his earliest texts, and in particular in Of Grammatology, where biology functions as the horizon in which notions like ‘differance,’ ‘archi-writing,’ ‘trace,’ and ‘text’ find their genetic-structural foundation and articulation. The goal is to demonstrate that only within this horizon one can understand the statement ‘there is nothing outside the text’ as well as the notion of the ‘general text’, widely misunderstood as the thesis of a hyperbolic hermeneutics.

Genetics and Epigenetics of Recurrent Hydatidiform Moles: Basic Science and Genetic Counselling

Gestational trophoblastic disease (GTD) is a group of conditions that originate from the abnormal hyperproliferation of trophoblastic cells, which derive from the trophectoderm, the outer layer of the blastocyst that would normally develop into the placenta during pregnancy. GTDs encompass hydatidiform mole (HM) (complete and partial), invasive mole, gestational choriocarcinoma, placental-site trophoblastic tumor, and epithelioid trophoblastic tumor. Of these, the most common is HM, and it is the only one that has been reported to recur in the same patients from independent pregnancies, which indicates the patients’ genetic predisposition. In addition, HM is the only GTD that segregates in families according to Mendel’s laws of heredity, which made it possible to use rare familial cases of recurrent HMs (RHMs) to identify two maternal-effect genes, NLRP7 and KHDC3L, responsible for this condition. Here, we recapitulate current knowledge about RHMs and conclude with the role and benefits of testing patients for mutations in the known genes.

Women as Mendelians and Geneticists

After the rediscovery of Mendel’s laws of heredity in 1900, the biologists who began studying heredity, variation, and evolution using the new Mendelian methodology—performing controlled hybrid crosses and statistically analyzing progeny to note the factorial basis of characters—made great progress. By 1910, the validity of Mendelism was widely recognized and the field William Bateson christened ‘genetics’ was complemented by the chromosome theory of heredity of T. H. Morgan and his group in the United States. Historians, however, have largely overlooked an important factor in the early establishment of Mendelism and genetics: the large number of women who contributed to the various research groups. This article examines the social, economic, and disciplinary context behind this new wave of women’s participation in science and describes the work of women Mendelians and geneticists employed at three leading experimental research institutes, 1900–1940. It argues that the key to more women working in science was the access to higher education and the receptivity of emerging interdisciplinary fields such as genetics to utilize the expertise of women workers, which not only advanced the discipline but also provided new opportunities for women’s employment in science.

The discovery of the ACE2 gene.

The discovery of the ACE2 gene broadened the scope of the regulatory mechanisms that govern the biological effects of the renin–angiotensin system in the cardiovascular system and beyond The late Daniel E. Koshland Jr. (1920–2007), a former editor of Science (1985–1995), characterized scientific discoveries into 3 categories of Charge, Challenge, and Chance, which he dubbed as The Cha-Cha-Cha Theory of Scientific Discoveries.1 Citing Nobel laureate Albert Szent-Gyorgyi, Dr Koshland described the first Cha, as to see what everyone else has seen and think what no one else has thought before. Charge solves the obvious problems, such as the laws of heredity, which were delineated by Gregory Mendel and the theory of gravity, which was developed by Sir Isaac Newton. The second Cha refers to discovery of a new concept that pulls together the accumulated facts that had remained unexplained, such as the description of base pairing in double helix by Watson and Crick.2 The third Cha is for the serendipitous discoveries, which per Louis Pasteur favor the prepared mind.1 Sir Alexander Fleming observed clear spots on petri dish and went on to discover penicillin from the mold Penicillin notatum . Scientific discoveries are typically incremental. The magnitude of increments follows a gradient from small to large. Major discoveries are not made in a scientific vacuum or through the Eureka moments but rather are based on a series of small discoveries that pave the path for the major breakthroughs. Thus, contributions of all steps in the ladder of scientific discoveries, whether small or large, are important. Nevertheless, certain steps epitomize the breakthroughs and apt to Dr Koshland’s Cha-Cha-Cha Theory of Scientific Discoveries. The progress in cardiovascular science is no exception. Hence, the Editors of Circulation Research have invited the audience to identify and highlight seminal discoveries that have …

Profile of Eckard Wimmer

The finding caused an uproar. Researchers at Stony Brook University in New York had engineered poliovirus in a test tube (1). The discovery, led by Eckard Wimmer, elected in 2012 to the National Academy of Sciences, dispelled the belief that viruses require a live host to grow and spread. Eckard Wimmer. The thought of synthetic viruses terrified an American public still reeling from 9/11 and the subsequent anthrax attacks. What if the technology to engineer viruses wound up in the hands of bioterrorists? However, today, just a decade later, it is widely accepted that the ability to engineer viruses also allows researchers to develop viruses that work as synthetic vaccines, to carry genetic material into a cell for use in gene therapies, or to preferentially attack cancer cells (2). Wimmer says his motivations for engineering polio were strictly scientific. Wimmer had solved the code—or genome sequence—for polio in 1981, but his goal, he says, was “to boot the synthesized genome for it to become a virus.” The boot worked. Few realized that Wimmer had done something extraordinary for science and society. Viruses, Wimmer and others have long believed, hold a unique place in biology: Outside the body, they behave like chemicals, but, once inside, they propagate in true Darwinian fashion. “Viruses are chemicals with a life cycle,” Wimmer says. “Once they get into living cells, they begin to replicate, following the laws of heredity and genetic variation.” Put another way, viruses hover on the boundary between life and nonlife. Wimmer’s Inaugural Article brings him one step closer to pinning down the inner workings of poliovirus (3). In this case, Song et al. looked for the parts of the polio genome that make it so deadly—that is, the parts of the code that allow the virus to replicate and kill …

Offline: The breeze of freedom

“She did not believe in modern medicine and associated it with major catastrophes and serious events.” So says the mother in Naguib Mahfouz's 1956 novel, Palace Walk. But there, too, one will find quotations that have a remarkable echo today: “the terrible struggle raging between the laws of heredity, attempting to keep things the same, and the law of time, pushing for change and a finale…In that magical universe he could visualize a new world, a new nation, a new home, a new people…the nation was preoccupied by its demand for freedom…Is this really a revolution?…Egypt appeared to be one great demonstration.” Here was the moment when Britain's protectorate over Egypt was overthrown and a new constitution put in its place. As now, Egyptians looked ahead to an era of “total independence”. Yet the “nightmare of the English” was followed by a nightmare of a different kind. Egyptian liberty may yet have some troubled dreams ahead.

Roger Sansom and Robert N. Brandon (eds.): Integrating Evolution and Development: From Theory to Practice

One might compare organismal evolution and organismal development to an old couple, of which the two partners had drifted apart over the years, experienced a profound crisis in which they didn’t talk to one another, but in the end have found their way back to a happy relationship. For the longest time, the study of life was not compartmentalized into the separate and occasionally competing fields of investigation that we have today, but took place as part of a larger endeavor of studying the natural world. Both ‘evolution’ and ‘development’ featured in this endeavor as general terms denoting change in the living domain and the terms were used largely interchangeably. (The Latin ancestor of the word ‘evolution’ means ‘to unfold’ or ‘to develop’ in the sense of unfolding an intrinsically present potential; see, e.g., Bowler 2003: 8.) In the nineteenth century, however, the two terms began to drift apart as each acquired a technical meaning in the context of the development of biology as a separate domain of science. ‘Development’ came to denote the development of individual organisms from seed or fertilized egg to adult. And ‘evolution’ now was what happens to populations of organisms, not individual organisms, as they change in time as a consequence of old generations dying off and new generations being born. Throughout much of the twentieth century, the study of evolution was the domain where the action was and in which the major advances were made: from the rediscovery of Mendel’s laws of heredity in 1900, via the establishment of population genetics, the forging of the Modern Synthesis in the 1930s–1940s, the discovery of the molecular structure of DNA (which, of course, was a discovery in molecular genetics, but fell into place as clarifying one missing element in evolutionary theory, namely the mechanism of inheritance), up to Dobzhansky’s famous dictum that ‘‘nothing in biology makes sense except in the light of

Genetic control of chromosome behaviour: Implications in evolution, crop improvement, and human biology

Chromosomes and chromosome pairing are pivotal to all biological sciences. The study of chromosomes helps unravel several aspects of an organism. Although the foundation of genetics occurred with the formulation of the laws of heredity in 1865, long before the discovery of chromosomes, their subsequent discovery put genetics on a sound footing. With the elucidation of parallelism between chromosome behaviour during meiosis and genes during the course of breeding, the laws of genetics, viz., the law of segregation and the law of independent assortment, could be explained. The interdependence of the disciplines of cytology and genetics led to their alliance resulting in the birth of the hybrid discipline of cytogenetics, during the first decade of the twentieth century. The fast, heterotic growth exhibited by cytogenetics has no parallel in the history of science. Research on chromosome pairing helped elucidate evolutionary phenomena that led to the production of allopolyploid crop plants. Chromosome research enriched the disciplines of genetics, plant breeding, biology, and medicine, which, in turn, have contributed to human welfare. The advances in genetics and cytogenetics accelerated the process of crop improvement as well, and resulted in the development of improved cereal cultivars that launched the famous Green Revolution. Cytogenetic manipulation of chromosome pairing facilitated alien gene transfers and genomic reconstruction of crop species. Alien chromosome additions also contributed to genomic repatterning and crop improvement. The discovery of chromosome number in humans helped unravel the effects of chromosomal imbalance on physical and mental abnormalities, miscarriage in pregnant women, and incidence of several forms of cancer in humans. The study of various aspects of chromosomes has positively impacted human welfare. How chromosome research has influenced basic genetics, plant breeding, and human biology and medicine is briefly described in this paper.

Toyama Kametaro and Vernon Kellogg: Silkworm Inheritance Experiments in Japan, Siam, and the United States, 1900–1912

Japanese agricultural scientist Toyama Kametaro's report about the Mendelian inheritance of silkworm cocoon color in Studies on the Hybridology of Insects (1906) spurred changes in Japanese silk production and thrust Toyama and his work into a scholarly exchange with American entomologist Vernon Kellogg. Toyama's work, based on research conducted in Japan and Siam, came under international scrutiny at a time when analyses of inheritance flourished after the "rediscovery" of Mendel's laws of heredity in 1900. The hybrid silkworm studies in Asia attracted the attention of Kellogg, who was concerned with how experimental biology would be used to study the causes of natural selection. He challenged Toyama's conclusions that Mendelism alone could explain the inheritance patterns of silkworm characters such as cocoon color because they had been subject to hundreds of years of artificial selection, or breeding. This examination of the intersection of Japanese sericulture and American entomology probes how practical differences in scientific interests, societal responsibilities, and silkworm materiality were negotiated throughout the processes of legitimating Mendelian genetics on opposite sides of the Pacific. The ways in which Toyama and Kellogg assigned importance to certain silkworm properties show how conflicting intellectual orientations arose in studies of the same organism. Contestation about Mendelism took place not just on a theoretical level, but the debate was fashioned through each scientist's rationale about the categorization of silkworm breeds and races and what counted as "natural". This further mediated the acceptability of the silkworm not as an experimental organism, but as an appropriately "natural" insect with which to demonstrate laws of inheritance. All these shed light on the challenges that came along with the use of agricultural animals to convincingly articulate new biological principles.