Clyde E. Keeler: The Rodless Mouse and the Early Days of Retinal Genetic Research.

PURPOSE: To report the lifetime activities and accomplishments of Clyde E. Keeler (1900-1994), a pioneer in the study of retinal genetics. DESIGN: Retrospective review. METHODS: Assessment of published and unpublished biographical material. RESULTS: Nearly a century ago, Keeler discovered an inherited abnormality in the mouse that causes the absence of rod photoreceptors and is the mouse counterpart of 1 type of human retinitis pigmentosa. CONCLUSIONS: In 1923, Keeler serendipitously discovered the so-called rodless mouse, which is now known to be the result of a mutation in the PDEGB gene. The historical name for the mouse strain is rd. This same defect was reported in human patients with retinitis pigmentosa in 1993. Keeler's mouse model is still used in gene therapy studies seeking to cure retinitis pigmentosa.

[The Emergence of Genetic Prenatal Diagnosis from Environmental Research : On a Methodological Shift in Prevention Around 1970]. / Wie aus Umweltforschung die genetische Pränataldiagnostik entstand : Über eine Methodenverschiebung in der Vorsorge um 1970.

The history of genetic prenatal diagnosis has so far been analyzed as a part of the history of human genetics and its reorientation as a clinical and laboratory-based scientific discipline in the second half of the 20th century. Based on new source material, we show in this paper that the interest in prenatal diagnosis also arose within the context of research on mutagenicity (the capacity to induce mutations) that was concerned with environmental dangers to human health. Our analysis of the debates around the establishment of the German Research Foundation's (DFG) research program "Prenatal Diagnosis of Genetic Defects" reveals that amniocentesis was introduced in Western Germany by a group of scientists working on the dangers for the human organism caused by radiation, pharmaceuticals, and other substances and consumer goods. We argue that, in a period of growing environmental concern, the support of prenatal diagnosis aimed to close a perceived gap in the prevention of environmental mutagenicity, i. e. genetic anomalies induced by environmental factors. The expected financing of prenatal diagnosis by health insurance in the course of the reform of abortion rights was used as another argument for the new technology's introduction as a "defensive measure". Only in a second step did changes in research structures, but most importantly experience from gynecological practice lead to a reframing of the technology as a tool for the diagnosis and prevention of mostly genetic or spontaneously occurring anomalies. Eventually, prenatal diagnosis, as it became routinely used in Western Germany from the early 1980s onward, had little to do with "environmental" questions. This case study of the early history of genetic prenatal diagnosis analyzes the still poorly researched relationship between research in human genetics, environmental research and medical practice. Furthermore, we aim to shed new light on a shift in perspective in prevention around 1970 that has so far been described in different contexts.

The historical role of species from the Solanaceae plant family in genetic research.

KEY MESSAGE: This article evaluates the main contributions of tomato, tobacco, petunia, potato, pepper and eggplant to classical and molecular plant genetics and genomics since the beginning of the twentieth century. Species from the Solanaceae family form integral parts of human civilizations as food sources and drugs since thousands of years, and, more recently, as ornamentals. Some Solanaceous species were subjects of classical and molecular genetic research over the last 100 years. The tomato was one of the principal models in twentieth century classical genetics and a pacemaker of genome analysis in plants including molecular linkage maps, positional cloning of disease resistance genes and quantitative trait loci (QTL). Besides that, tomato is the model for the genetics of fruit development and composition. Tobacco was the major model used to establish the principals and methods of plant somatic cell genetics including in vitro propagation of cells and tissues, totipotency of somatic cells, doubled haploid production and genetic transformation. Petunia was a model for elucidating the biochemical and genetic basis of flower color and development. The cultivated potato is the economically most important Solanaceous plant and ranks third after wheat and rice as one of the world's great food crops. Potato is the model for studying the genetic basis of tuber development. Molecular genetics and genomics of potato, in particular association genetics, made valuable contributions to the genetic dissection of complex agronomic traits and the development of diagnostic markers for breeding applications. Pepper and eggplant are horticultural crops of worldwide relevance. Genetic and genomic research in pepper and eggplant mostly followed the tomato model. Comparative genome analysis of tomato, potato, pepper and eggplant contributed to the understanding of plant genome evolution.

DNA repair, genome stability and cancer: a historical perspective.

The multistep process of cancer progresses over many years. The prevention of mutations by DNA repair pathways led to an early appreciation of a role for repair in cancer avoidance. However, the broader role of the DNA damage response (DDR) emerged more slowly. In this Timeline article, we reflect on how our understanding of the steps leading to cancer developed, focusing on the role of the DDR. We also consider how our current knowledge can be exploited for cancer therapy.

Anomalias en los comienzos de la transgenesis vegetal: intereses e interpretaciones en torno a las primeras plantas transgenicas / Anomalies in the early stages of plant transgenesis: interests and interpretations surrounding the first transgenic plants

Se presentan los orígenes de la transgénesis vegetal, analizando los experimentos que llevaron a la obtención de las primeras plantas transgénicas. Aquí se entrecruzan actores, prácticas e intereses que resultan emblemáticos de la biotecnología. Se trata, además, de un caso donde se pone en juego el consenso sobre el sentido de experimentos fundamentales. Estos sucesos permiten ilustrar parte de los conflictos en los que se involucran los organismos genéticamente modificados, pues en torno a estos primeros experimentos los científicos articularán representaciones distintas sobre la transgénesis vegetal, valorando de un modo distinto las anomalías que presentaban los primeros experimentos. De este modo, se analizan los intereses e interpretaciones en torno a los primeros experimentos con plantas transgénicas.

The origins of plant transgenesis are discussed and the experiments that led to the first transgenic plants are analyzed. This process involved a series of actors, practices and interests specific to biotechnology. Consensus about the meaning of fundamental experiments was also at issue here. These events illustrate some of the conflicts related to genetically modified organisms, since scientists had different responses to plant transgenesis at the time of the first experiments, and opinions of the anomalies in those experiments varied. Thus, this article analyzes the interests and interpretations surrounding the first experiments involving transgenic plants.

Watching the race to find the breast cancer genes.

This article focuses on a crucial development in genetic research that occurred in the 1990s: the identification of the first two of the genes responsible for hereditary breast and ovarian cancer (BRCA1 and BRCA2). Issues addressed touch on the evolution of the subfield, its potential impact on cancer treatment, and industry involvement. The article follows the activities of the various research groups competing in the race to identify the genes and depicts the frequent conflicts between them. Data are derived chiefly from a bibliometric database. The results show a diversity of research practices. Industrial researchers interacted within far more tightly knit networks than their counterparts working in public organizations. The patenting and commercial exploitation of results led to fierce battles, with one group capturing most of the benefits.