Q & A. Philip Ingham

Philip Ingham grew up in Liverpool and graduated from Cambridge University in 1977. He did his D.Phil in Developmental Genetics at Sussex University and postdoctoral work in Strasbourg, France before joining the laboratory of David Ish-Horowicz at the ICRF Mill Hill Laboratories. Here he applied the emerging technique of tissue in situ hybridisation to the analysis of the Drosophila segmentation genes. After a short spell at the MRC Laboratory of Molecular Biology in Cambridge, he rejoined the ICRF as a Research Scientist at the Developmental Biology Unit in Oxford. His group pioneered the analysis of the Hedgehog signalling pathway in Drosophila and in collaboration with the labs of Andy McMahon and Cliff Tabin at Harvard University, discovered the Hedgehog gene family in vertebrates. In 1996 he was appointed Professor of Developmental Genetics at the University of Sheffield where he has established the Centre for Developmental Genetics.     

The 2012 Thomas Hunt Morgan medal: Kathryn V. Anderson

The Genetics Society of America annually honors members who have made outstanding contributions to genetics. The Thomas Hunt Morgan Medal recognizes a lifetime contribution to the science of genetics. The Genetics Society of America Medal recognizes particularly outstanding contributions to the science of genetics over the past 31 years. The George W. Beadle Medal recognizes distinguished service to the field of genetics and the community of geneticists. The Elizabeth W. Jones Award for Excellence in Education recognizes individuals or groups who have had a significant, sustained impact on genetics education at any level, from kindergarten through graduate school and beyond. The Novitski Prize recognizes an extraordinary level of creativity and intellectual ingenuity in solving significant problems in biological research through the application of genetic methods. We are pleased to announce the 2012 awards.     

James F. Crow and the art of teaching and mentoring

To honor James F. Crow on the occasion of his 95th birthday, GENETICS has commissioned a series of Perspectives and Reviews. For GENETICS to publish the honorifics is fitting, as from their birth Crow and GENETICS have been paired. Crow was scheduled to be born in January 1916, the same month that the first issue of GENETICS was scheduled to appear, and in the many years that Crow has made major contributions to the conceptual foundations of modern genetics, GENETICS has chronicled his and other major advances in the field. The commissioned Perspectives and Reviews summarize and celebrate Professor Crow's contributions as a research scientist, administrator, colleague, community supporter, international leader, teacher, and mentor. In science, Professor Crow was the international leader of his generation in the application of genetics to populations of organisms and in uncovering the role of genetics in health and disease. In education, he was a superb undergraduate teacher whose inspiration changed the career paths of many students. His teaching skills are legendary, his lectures urbane and witty, rigorous and clear. He was also an extraordinary mentor to numerous graduate students and postdoctoral fellows, many of whom went on to establish successful careers of their own. In public service, Professor Crow served in key administrative positions at the University of Wisconsin, participated as a member of numerous national and international committees, and served as president of both the Genetics Society of America and the American Society for Human Genetics. This Perspective examines Professor Crow as teacher and mentor through the eyes and experiences of one student who was enrolled in his genetics course as an undergraduate and who later studied with him as a graduate student.     

"Do not lose the winning games". To the 100th anniversary of M.E. Lobashev

Mikhail E. Lobashev (1907-1971), Head of the Department of Genetics and Breeding with the Leningrad (now, St. Petersburg) State University from 1957 to 1971, had traveled a long way from a homeless to an Honored Scientist of the Russian Federation. Lobashev was among the discoverers of chemical mutagenesis in Drosophila; he pioneered in connecting the mutation process and the repair of genetic material and developed the concept of signal inheritance. Through the entire Great Patriotic War, he served with the field forces, and defended his doctoral dissertation on the physiological hypothesis of mutation process in 1946 on the return to the University. In 1948, Mikhail Efimovich was discharged from the University, where he was the Dean of the Biological Faculty, as a Morganist. On his return to the University in 1957, Lobashev devoted all his energies to the restoration of genetic education in this country, wrote the first domestic genetic textbook in the post-Lysenko period, organized the research at the Department of Genetics and Breeding, and created the scientific school, whose representatives are still successfully working in the field of genetics.     

Essay contest reveals misconceptions of high school students in genetics content

National educational organizations have called upon scientists to become involved in K-12 education reform. From sporadic interaction with students to more sustained partnerships with teachers, the engagement of scientists takes many forms. In this case, scientists from the American Society of Human Genetics (ASHG), the Genetics Society of America (GSA), and the National Society of Genetic Counselors (NSGC) have partnered to organize an essay contest for high school students as part of the activities surrounding National DNA Day. We describe a systematic analysis of 500 of 2443 total essays submitted in response to this contest over 2 years. Our analysis reveals the nature of student misconceptions in genetics, the possible sources of these misconceptions, and potential ways to galvanize genetics education.     

“Do not lose the winning games” to the 100th anniversary of M.E. Lobashev

Mikhail E. Lobashev (1907–1971), Head of the Department of Genetics and Breeding with the Leningrad (now, St. Petersburg) State University from 1957 to 1971, had traveled a long way from a homeless to an Honored Scientist of the Russian Federation. Lobashev was among the discoverers of chemical mutagenesis in Drosophila; he pioneered in connecting the mutation process and the repair of genetic material and developed the concept of signal inheritance. Through the entire Great Patriotic War, he served with the field forces, and defended his doctoral dissertation on the physiological hypothesis of mutation process in 1946 on the return to the University. In 1948, Mikhail Efimovich was discharged from the University, where he was the Dean of the Biological Faculty, as a Morganist. On his return to the University in 1957, Lobashev devoted all his energies to the restoration of genetic education in this country, wrote the first domestic genetic textbook in the post-Lysenko period, organized the research at the Department of Genetics and Breeding, and created the scientific school, whose representatives are still successfully working in the field of genetics.     

Introduction and Institutionalization of Genetics in Mexico Ana Barahona,Susana Pinar and Francisco J. Ayala

We explore the distinctive characteristics of Mexico’s society, politics and history that impacted the establishment of genetics in Mexico, as a new disciplinary field that began in the early 20th century and was consolidated and institutionalized in the second half. We identify about three stages in the institutionalization of genetics in Mexico. The first stage can be characterized by Edmundo Taboada, who was the leader of a research program initiated during the Cárdenas government (1934–1940), which was primarily directed towards improving the condition of small Mexican farmers. Taboada is the first Mexican post-graduate investigator in phytotechnology and phytopathology, trained at Cornell University and the University of Minnesota, in 1932 and 1933, respectively. He was the first investigator to teach plant genetics at the National School of Agriculture and wrote the first textbook of general genetics, Genetics Notes, in 1938. Taboada’s most important single genetics contribution was the production of “stabilized” corn varieties. The extensive exile of Spanish intellectuals to Mexico, after the end of Spain’s Civil War (1936–1939), had a major influence in Mexican science and characterizes the second stage. The three main personalities contributing to Mexican genetics are Federico Bonet de Marco and Bibiano Fernández Osorio Tafall, at the National School of Biological Sciences, and José Luis de la Loma y Oteyza, at the Chapingo Agriculture School. The main contribution of the Spanish exiles to the introduction of genetics in Mexico concerned teaching. They introduced in several universities genetics as a distinctive discipline within the biology curriculum and wrote genetics text books and manuals. The third stage is identified with Alfonso León de Garay, who founded the Genetics and Radiobiology Program in 1960 within the National Commission of Nuclear Energy, which had been founded in 1956. The Genetics and Radiobiology Program rapidly became a disciplinary program, for it embraced research, teaching, and training of academics and technicians. The Mexican Genetics Society, created by de Garay in 1966, and the development of strains and cultures for genetics research were important activities. One of de Garay’s key requirements was the compulsory training of the Program’s scientists for at least one or two years in the best universities of the United States and Europe. De Garay’s role in the development of Mexican genetics was fundamental. His broad vision encompassed the practice of genetics in all its manifestations.     

Life on top-working@ the Wellcome Trust Centre for Human Genetics: Scotland Yard for DNA detectives

The Wellcome Trust Centre for Human Genetics (WTCHG) was established in 1994 to undertake research into the genetic basis of common diseases. Since June 1999 the centre has been located in the Henry Wellcome Building of Genomic Medicine, University of Oxford. The scientific objective of the centre is to explore all aspects of the genetic susceptibility of disease including the localisation of genes involved in common diseases, characterization of the variants responsible for susceptibility, the understanding of how these DNA variants may contribute to risk of disease in the population and finally, the understanding of how such genetic factors contribute biologically to a disease process. The centre houses multidisciplinary research teams in human genetics, functional genomics, bioinformatics, statistical genetics and structural biology.     

Four Children and Yale: The Making of a Human Geneticist: The Grover Powers Lecture 2014

Dr. Leon E. Rosenberg delivered the following presentation as the Grover Powers Lecturer on May 14, 2014, which served as the focal point of his return to his “adult home” as a Visiting Professor in the Department of Pediatrics. Grover F. Powers, MD, was one of the most influential figures in American Pediatrics and certainly the leader who created the modern Department of Pediatrics at Yale when he was recruited in 1921 from Johns Hopkins and then served as its second chairman from 1927 to 1951. Dr. Powers was an astute clinician and compassionate physician and fostered and shaped the careers of countless professors, chairs, and outstanding pediatricians throughout the country. This lectureship has continued yearly since it first honored Dr. Powers in 1956. The selection of Dr. Rosenberg for this honor recognizes his seminal role at Yale and throughout the world in the fostering and cultivating of the field of human genetics. Dr. Rosenberg served as the inaugural Chief of a joint Division of Medical Genetics in the Departments of Pediatrics and Internal Medicine; he became Chair when this attained Departmental status. Then he served as Dean of the Medical School from 1984 to 1991, before he became President of the Pharmaceutical Research Institute at Bristol-Myers Squibb and later Senior Molecular Biologist and Professor at Princeton University, until his recent retirement. Dr. Rosenberg has received numerous honors that include the Borden Award from the American Academy of Pediatrics, the McKusick Leadership Award from the American Society for Human Genetics, and election to the Institute of Medicine and the National Academy of Sciences.     

Waddington's Legacy in Development and Evolution

This paper provides an overview of the life and works of ConradHal Waddington(1905-1975). After an early life spent apart fromhis parents pursuing ammonites, naturalhistory, geology andarchaeology, Waddington took a degree in Geology at Cambridge(1926).Genetics and experimental embryology soon replaced palaeontologyas he began his experimentalstudies on the chemical nature ofthe primary organizer discovered by Spemannand Mangold in 1924.It was during this period of collaboration with Joseph and DorothyNeedhamthat Waddington developed the concepts of evocation and individuation.Theestablishment of a Unit on Animal Breeding and Genetics inEdinburgh after the secondWorld War provided Waddington withhis professional home for the rest of his career as he soughtto integrate genetics and development into an evolutionarilyrelevant discipline.Our conception of embryonic developmentas a highly integrated series of canalized pathways owes muchto Waddington's development of the concepts of canalization,chreods, epigenetics and the epigenotype. The metaphorical epigeneticlandscape became the way that most developmental biologists"saw" the organization of embryonic development. The conceptof supragenomic, integrated, heritable, epigenetic organizationof embryonic development is arguably Waddington's lasting legacyto development and evolution. The integration of his epigeneticlegacy into a quantitative developmental genetics model of thedevelopmental and evolutionary origin of phenotypes is now beingundertaken. It has still to be proven whether genetic assimilation,which Waddington demonstrated to be a real phenomenon in laboratoryexperiments, has been a force in evolutionary adaptation.     

Essay: early American genetics journals

Before the Second World War, there were only two North-American journals exclusively devoted to genetics - the Journal of Heredity and Genetics. In the late 1940s, Genetics spawned two progeny - the American Journal of Human Genetics and Evolution. This article recounts the early days of these journals, their influential and often colourful founding editors, and their contents. It emphasizes the contrast between those years, when a reader had a realistic chance of keeping up with the whole field, and the current plethora of journals that makes it impossible to keep up with even the tables of contents.     

教学科研相得益彰提高遗传学教学质量

遗传学是生命科学领域的一门重要的基础理论学科。遗传学的教学内容日益更新,逐渐向更深层次拓展。为适应遗传学的迅速发展和培养创新型人才的要求,将遗传学发展的科研成果适时地反映到遗传学课程的教学内容中,有利于增强知识的系统性,提高学习遗传学的趣味性,把握学科知识的整体性。对于提高教学质量,培养学生的创新精神和科研素质起到切实可行的推进作用。     

Effects of genetic backgrounds on hyperbilirubinemia in radixin-deficient mice due to different expression levels of Mrp3

ERM (ezrin/radixin/moesin) proteins are organizers of apical actin cortical layer in general. We previously reported that the knockout of radixin resulted in Rdx(-/-) mice with displacement/loss of the canalicular transporter Mrp2, giving rise to Dubin-Johnson syndrome-like conjugated hyperbilirubinemia in the mixed genetic background (C57BL/6-129/Sv) (Kikuchi, et al. (2002) Nature Genetics 31, 320-325). However, when these mice were kept under mixed genetic background for years (late mixed backgrounds; LMB), the conjugated hyperbilirubinemia gradually became inconspicuous, while evidence of liver injury increased. We examined the effect of genetic background by backcrossing LMB Rdx(-/-) mice to C57BL/6 and 129/Sv wild type mice with the result that the Rdx(-/-) congenic mice regained hyperbilirubinemia with reduced hepatocellular damage. As revealed by immunofluorescence and western blots, the localization/expression of apical transporters, Mrp2, CD26, P-gps, and Bsep were not influenced by backcrossing, though those of a basolateral transporter, Mrp3, were strikingly increased by backcrossing.     

Role of the tetradecapeptide repeat domain of human histone deacetylase 6 in cytoplasmic retention

Histone deacetylase 6 (HDAC6) contains tandem catalytic domains and a ubiquitin-binding zinc finger and displays deacetylase activity toward acetylated microtubules. Here we show that unlike its orthologs from Caenorhabditis elegans, Drosophila, and mouse, human HDAC6 possesses a tetradecapeptide repeat domain located between the second deacetylase domain and the C-terminal ubiquitin-binding motif. Related to this structural difference, the cytoplasmic localization of human, but not murine, HDAC6 is resistant to treatment with leptomycin B (LMB). Although it is dispensable for the deacetylase and ubiquitin binding activities of human HDAC6, the tetradecapeptide repeat domain displays acetyl-microtubule targeting ability. Moreover, it forms a unique structure and is required for the LMB-resistant cytoplasmic localization of human HDAC6. Besides the tetradecapeptide repeat domain, human HDAC6 possesses two LMB-sensitive nuclear export signals and a nuclear localization signal. These results thus indicate that the cytoplasmic localization for murine and human HDAC6 proteins is differentially regulated and suggest that the tetradecapeptide repeat domain serves as an important sequence element to stably retain human HDAC6 in the cytoplasm.     

Temporal dynamics and linkage disequilibrium in natural Caenorhabditis elegans populations

Caenorhabditis elegans is a major laboratory model system yet a newcomer to the field of population genetics, and relatively little is known of its biology in the wild. Recent studies of natural populations at a single time point revealed strong spatial population structure and suggested that these populations may be very dynamic. We have therefore studied several natural C. elegans populations over time and genotyped them at polymorphic microsatellite loci. While some populations appear to be genetically stable over the course of observation, others seem to go extinct, with full replacement of multilocus genotypes upon regrowth. The frequency of heterozygotes indicates that outcrossing occurs at a mean frequency of 1.7% and is variable between populations. However, in genetically stable populations, linkage disequilibrium between different chromosomes can be maintained over several years at a level much higher than expected from the heterozygote frequency. C. elegans seems to follow metapopulation dynamics, and the maintenance of linkage disequilibrium despite a low yet significant level of outcrossing suggests that selection may act against the progeny of outcrossings.     

Characterization of university-level introductory genetics courses in Canada.

We conducted survey research with the intent to characterize post-secondary introductory genetics (IG) education in Canada during the 1996-1997 academic year. At least a minimum data set was obtained from 47 institutions through responses to a mailed questionnaire and on-line resources. The total reported enrollment (TRE) for IG was 10,500. Over half of the TRE used one particular text. A core curriculum of topics was identified as those given more than 30 min of lecture time in at least half of reporting institutions. Slightly more than half of the TRE had laboratory exercises associated with their IG course. Laboratory exercises tended to emphasize classical transmission genetics with very few exercises in molecular genetics. For the determination of academic equivalency between institutions, particular attention should be given to the breadth and duration of the tutorial and (or) laboratory components. The majority of personnel teaching IG were trained in Canada within the previous 15 years. We suggest mechanisms by which the Genetics Society of Canada could work to promote genetical literacy.     

Dr. R. J. McKinlay Gardner Interviewed by Dr. Hon Fong L. Mark

Dr. Mac Gardner graduated in medicine from the University of Otago, Dunedin, New Zealand in 1968. After hospital residencies he undertook training in clinical genetics in New Zealand, and then the U.K., France and Canada. He returned to New Zealand as a specialist in genetics in 1977, but for the past 14 years he has been a consultant in medical genetics with Genetic Health Services Victoria in Melbourne, Australia.