1ST CENTENNIAL AWARD FOR MOLECULAR GENETICSAllelic Imbalance Is a Prevalent and Tissue-Specific Feature of the Mouse Transcriptome
Stefan F. Pinter, David Colognori, Brian J. Beliveau, Ruslan I. Sadreyev, Bernhard Payer, Eda Yildirim, Chao-ting Wu, Jeannie T. Lee
GENETICS June, 2015 vol. 200:537-549; DOI: 10.1534/genetics.115.176263 http://www.genetics.org/content/200/2/537
Aside from genes affected by epigenetic phenomena, the two alleles of a gene are generally assumed to express at equal levels. Pinter et al. revealed the unexpected extent of allelic imbalance by measuring gene expression in hybrid offspring from genetically distinct mice. Genetic variation likely causes most of this imbalance, but surprisingly, some of the genes were expressed from only one allele in both hybrid and inbred strains.
Co-lead author Stefan Pinter is an Assistant Professor in Genetics and Genome Sciences at UConn Health and member of the Institute for Systems Genomics at the University of Connecticut. His primary interest is to learn how chromosome folding, non-coding RNAs, and chromatin modifiers orchestrate gene expression, particularly in the context of allele-specific regulation. The vast majority of disease-associated variation does not change the content of genes but rather their dosage. Classic models of dosage compensation, such as X chromosome inactivation (XCI), provide a uniquely tractable perspective on these questions, because they use a variety of gene regulatory mechanisms. Building on his XCI, stem cell, and epigenomics work with GSA member Jeannie Lee at MGH/Harvard Medical School, the Pinter lab at UConn Health aims to develop scalable systems approaches to these questions, with a focus on genes that escape XCI and are implicated in Turner's syndrome (XO karyotype). Pinter's enduring interest in chromosome biology originated in his PhD training on DNA replication with Virginia Zakian at Princeton University, supported by a Komen Breast Cancer Research Foundation dissertation fellowship. His postdoctoral training was funded by the German Research Foundation and the Fund for Medical Discovery at MGH. Current work in the Pinter lab is supported by UConn Health. http://facultydirectory.uchc.edu/profile?profileId=Pinter-Stefan
Co-lead author David Colognori is a graduate student in Jeannie Lee's lab in the Department of Genetics at Harvard University. His work focuses on the genetic and epigenetic mechanisms responsible for monoallelic expression of genes, for example during imprinting, random monoallelic expression, and sex chromosome dosage compensation. The latter involves an entire chromosome being silenced in female mammals in order to balance gene expression levels between males, which have one X chromosome, and females, which have two. This process is orchestrated by a long noncoding RNA, Xist, expressed from the inactive X. He is currently studying the interactions between Xist RNA and its associated proteins, which are necessary for the ensuing cascade of epigenetic modifications that lead to X chromosome inactivation in mice.
1ST CENTENNIAL AWARD FOR POPULATION AND EVOLUTIONARY GENETICSAdaptation, Clonal Interference, and Frequency-Dependent Interactions in a Long-Term Evolution Experiment with Escherichia coli
Rohan Maddamsetti, Richard E. Lenski, Jeffrey E. Barrick
GENETICS June, 2015 200:619-631; DOI: 10.1534/genetics.115.176677http://www.genetics.org/content/200/2/619
Maddamsetti et al. reconstructed the dynamics of 42 mutations over 20,000 generations of bacterial evolution. They show that cohorts of multiple beneficial mutations typically accumulated before a lineage was able to complete a selective sweep. In one striking case, two bacterial types with different sets of mutations coexisted for thousands of generations.
Lead author Rohan Maddamsetti recently completed his PhD in evolutionary biology at Michigan State University and will start a postdoc in the Department of Systems Biology at Harvard Medical School in the fall. In his dissertation, Rohan studied how populations of Escherichia coli adapt in evolution experiments, and compared patterns of molecular evolution in those experiments to patterns found in natural E. coli populations. Rohan is broadly interested in the molecular evolution, and is inspired by an analogy between the complex molecular machinery encoded by the products of 'selfish genes,' and the complex societies built by humans motivated by self-interest.
1ST CENTENNIAL AWARD FOR QUANTITATIVE GENETICSThe Nature of Genetic Variation for Complex Traits Revealed by GWAS and Regional Heritability Mapping Analyses
Armando Caballero, Albert Tenesa, Peter D. Keightley
GENETICS December, 2015 201:1601-1613; DOI:10.1534/genetics.115.177220http://www.genetics.org/content/201/4/1601
The mystery of the "missing heritability" of many complex traits is the mismatch between their heritability and the total variance explained by SNPs identified in genome-wide association studies (GWAS). Caballero et al. used simulations to show that, contrary to previous results, common variants of large effect are responsible for most variation and switching to GWAS of full sequence data is unlikely to substantially reduce the missing heritability.
Lead author Armando Caballero is Professor of Genetics at the University of Vigo, Spain. He completed his PhD at Universidad Complutense, Madrid (1990) and a postdoctoral research fellowship at Edinburgh University (1990-1996). His main scientific interests are conservation genetics, quantitative genetics, and evolution. He has been an Associate Editor of the journals Evolution (1999-2001), The American Naturalist (2005-2009), Journal of Evolutionary Biology (2007-2011), and Genetics, Selection, Evolution (2009-2016). He has served as Head of Department (2005-2011), Secretary of the Spanish Society of Genetics (2007-2010), and coordinator of MSc (2009-2012) and PhD (1997-2016) programmes.
About the Genetics Society of America (GSA)
Founded in 1931, the Genetics Society of America (GSA) is the professional scientific society for genetics researchers and educators. The Society’s more than 5,000 members worldwide work to deepen our understanding of the living world by advancing the field of genetics, from the molecular to the population level. GSA promotes research and fosters communication through a number of GSA-sponsored conferences including regular meetings that focus on particular model organisms. GSA publishes two peer-reviewed, peer-edited scholarly journals: GENETICS, which has published high quality original research across the breadth of the field since 1916, and G3: Genes|Genomes|Genetics, an open-access journal launched in 2011 to disseminate high quality foundational research in genetics and genomics. The Society also has a deep commitment to education and fostering the next generation of scholars in the field. For more information about GSA, please visit www.genetics-gsa.org.
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