Revisitando a história da genética clássica: dos caracteres unitários ao gene (1900-1926)

O presente artigo se refere ao período da chamada genética clássica. Seu objetivo é discutir sobre as concepções e terminologia aplicadas ao material hereditário entre 1900 (“redescoberta” do trabalho de Mendel) e a publicação do livro The theory of the gene (1926) de Thomas Hunt Morgan (1866-1945), procurando averiguar se houve mudanças em relação a esses aspectos durante o período. O foco de nossa análise são as contribuições de dois grupos: o grupo britânico liderado por William Bateson (1861-1926) e o grupo norte-americano, liderado por Morgan. No período estudado, a terminologia foi mudando de “fator”, “caracteres”, “caracteres-unitários” e “gene”, que foi adotado a partir de 1926. Apesar de Bateson e Morgan considerarem que os agentes hereditários estivessem nas células germinativas, desconheciam sua composição. Esta pesquisa mostrou que durante o estabelecimento de uma nova área de estudo vão ocorrendo modificações em relação à terminologia empregada bem como à conotação dos termos, até que haja um consenso por parte da comunidade científica que os adote.

MR-TRYX: A Mendelian randomization framework that exploits horizontal pleiotropy to infer novel causal pathways

In Mendelian randomization (MR) analysis, variants that exert horizontal pleiotropy are typically treated as a nuisance. However, they could be valuable in identifying novel pathways to the traits under investigation. Here, we developed the MR-TRYX framework, following the advice of William Bateson to “TReasure Your eXceptions”. We begin by detecting outliers in a single exposure-outcome MR analysis, hypothesising they are due to horizontal pleiotropy. We search across thousands of complete GWAS summary datasets in the MR-Base database to systematically identify other (“candidate”) traits that associate with the outliers. We developed a multi-trait pleiotropy model of the heterogeneity in the exposure-outcome analysis due to pathways through candidate traits. Through detailed investigation of several causal relationships, many pleiotropic pathways were uncovered with already established causal effects, validating the approach, but also novel putative causal pathways. Adjustment for pleiotropic pathways reduced the heterogeneity across the analyses.

Edith Rebecca Saunders e a hereditariedade no final do século XIX

ResumoO presente artigo trata das Mulheres em Ciências e se refere ao trabalho desenvolvido no século XIX, por uma pesquisadora da área da Botânica chamada Edith Rebecca Saunders, da Newham College, Inglaterra que foi convidada pelo Professor Willian Bateson, de Cambridge, para desenvolver trabalhos de hibridação em plantas, com a finalidade de estudar a descontinuidade das espécies. Edith Saunders não só desenvolveu o trabalho como se destacou dos demais membros do grupo pela sua capacidade de condução de experimentos controlados. Mesmo que o trabalho de Mendel não fosse ainda conhecido pelo grupo e por Edith Saunders, essa pesquisadora conduziu seus cruzamentos que levaram a conclusões semelhantes as de Mendel. Quando seu grupo, dirigido por Willian Bateson, tomou ciência dos resultados mendelianos, os trabalhos desenvolvidos por Edith Saunders agregaram respostas mais precisas na pesquisa da hereditariedade. Além disso, descobriu, juntamente com Punnet, outra interação genética que até então não havia sido relatada. Seu reconhecimento como pesquisadora abriu espaço para que outras mulheres, posteriormente, pudessem constituir grupos de pesquisa e trabalhar em ciência.Palavras-chave: Becky Saunders; Bateson; Genética.AbstractThis article deals with Women in Sciences and refers to the work developed in the 19th century by a botanist researcher named Edith Rebecca Saunders, of Newham College, England, who was invited by Professor William Bateson of Cambridge to develop hybridization works in plants to study the species discontinuity. Edith Saunders not only developed the work but also emphasized the other members of the group by their ability to conduct controlled experiments. Even though Mendel's work was not yet known by the group and by Edith Saunders, this researcher conducted her crosses which led to conclusions similar to Mendel's. When his group, led by William Bateson, becomes aware of Mendelian results, the works developed by Edith Saunders add more precise answers in the research of heredity. In addition, he discovers, along with Punnet, another genetic interaction that hitherto had not been reported. Her recognition as a researcher made room for other women to be able to form research groups and work on science.Keywords: Becky Saunders; Bateson; Genetics.

Signals from the Goal

This chapter places Bateson's work with dolphins within a broader 1960s "dolphin mystique"--a cultural site where anxieties over modern science’s physical models went unresolved. Most associated with scientist John C. Lilly, the dolphin mystique had futurist, utilitarian, and romantic components, also found in a similar "outer space mystique." The chapter shows how Lilly's and Bateson's research goals differed through a further substantiation of the sources of Bateson's thought: the Macy Conferences on Cybernetics (his theory of play, the concepts of positive feedback, negative feedback, servomechanisms, and the naturalization of teleology); and his father William Bateson and his career amid the ongoing conflict between Darwinist and Lamarckian theories of evolution. In Hawaii, Bateson expressed his isolation from potential peers and research frustrations in letters to old friend and Darwin granddaughter/scholar Nora Barlow. This isolation, however, allowed Bateson to articulate a justification for scientific inquiry that was neither utilitarian nor a value-neutral pursuit of truth, but an effort to establish an accurate depiction of the relationship between nature and the human self, which he called the riddle of the Sphinx.

The relative roles of politics and science: William Bateson, black slavery, eugenics and speciation

William Bateson’s background and training suggest sympathy with the black emancipation movement. Yet the movement’s success is attributed more to battles between political figures, than between scientists with contending views on the biology of racial differences. Perhaps, in the long term, Bateson’s contributions to slavery andeugenic issues will be seen as no less important than those of politicians. Mendel’sdiscovery of what we now know as “genes” languished until seized upon by Bateson in 1900. For six exhausting years he struggled to win scientific acceptance of these biological character-determining units. Later, he pressed the Mendelian message home to the general public, opposing simplistic applications of Mendelian principles to human affairs, and arguing that minor genic differences that distinguished races – e.g. skin colour – can seldom initiate new species. Indeed, the spark that initiates a divergence into two species can be non-genic. We are one reproductively isolated population, the human species.

The relative roles of politics and science: William Bateson, black slavery, eugenics and speciation

William Bateson’s background and training suggest sympathy with the black emancipation movement. Yet the movement’s success is attributed more to battles between political figures, than between scientists with contending views on the biology of racial differences. Perhaps, in the long term, Bateson’s contributions to slavery andeugenic issues will be seen as no less important than those of politicians. Mendel’sdiscovery of what we now know as “genes” languished until seized upon by Bateson in 1900. For six exhausting years he struggled to win scientific acceptance of these biological character-determining units. Later, he pressed the Mendelian message home to the general public, opposing simplistic applications of Mendelian principles to human affairs, and arguing that minor genic differences that distinguished races – e.g. skin colour – can seldom initiate new species. Indeed, the spark that initiates a divergence into two species can be non-genic. We are one reproductively isolated population, the human species.