Year: 2011
Type: article
Abstract: We report genome sequences of 17 inbred strains of laboratory mice and identify almost ten times more variants than previously known. We use these genomes to explore the phylogenetic history of the laboratory mouse and to examine the functional consequences of allele-specific variation on transcript abundance, revealing that at least 12% of transcripts show a significant tissue-specific expression bias. By identifying candidate functional variants at 718 quantitative trait loci we show that the molecular nature of functional variants and their position relative to genes vary according to the effect size of the locus. These sequences provide a starting point for a new era in the functional analysis of a key model organism. The laboratory mouse has become the workhorse of biomedical research. The draft sequence of the mouse reference genome was published in 2002, but some forms of variation are still poorly documented. Two papers in this issue go a long way towards filling the gaps. The generation and analysis of sequence from 17 key mouse genomes, including most of the commonly used inbred strains and their progenitors, reveal extensive genetic variation and provide insights into the molecular nature of functional variants as well as the phylogenetic history of the lab mouse. The data will be an important resource for a new era of functional analysis. The second paper describes the landscape of structural variants in the genomes of 13 classical and four wild-derived inbred mouse strains, mapping many of them to base-pair resolution. Despite their prevalence, structural variants are shown to have a relatively small impact on phenotypic variation.
Source: Nature
DOI: 10.1038/nature10413
Authors: Thomas M. Keane, Leo Goodstadt, Petr Danecek, Michael A. White, Kim Wong, Binnaz Yalcin, Andreas Heger, Avigail Agam, Guy Slater, Martin Goodson, Nicholas A. Furlotte, Eleazar Eskin, Christoffer Nellåker, Helen Whitley, James Cleak, Deborah Janowitz, Polinka Hernandez-Pliego, Andrew Edwards, T. Grant Belgard, Peter L. Oliver, Rebecca E. McIntyre, Amarjit Bhomra, Jérôme Nicod, Xiangchao Gan, Wei Yuan, Louise van der Weyden, Charles A. Steward, Sendu Bala, Jim Stalker, Richard Mott, Richard Durbin, Ian J. Jackson, Anne Czechanski, José Afonso Guerra-Assunção, Leah Rae Donahue, Laura G. Reinholdt, Bret A. Payseur, Chris P. Ponting, Ewan Birney, Jonathan Flint, David J. Adams
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: hybrid
Estimated APC paid: $12,690
Funders: National Science Foundation, Juvenile Diabetes Research Foundation International, Wellcome Trust, Immune Tolerance Network, Cancer Research UK, Medical Research Council, Biotechnology and Biological Sciences Research Council, National Heart, Lung, and Blood Institute, National Human Genome Research Institute, National Institute of Allergy and Infectious Diseases, National Institute of Diabetes and Digestive and Kidney Diseases, U.S. National Library of Medicine
Awards: G1047511568, Resequencing Arabidopsis thaliana, G1779979025, G2355553396, Identification of quantitative trait genes in the mouse., The Genetics and Evolution of Hybrid Male Sterility in House Mice, G3331762986, Construction of 100 recombinant inbred lines of genetically diverse mice., Analysis of quantitative trait networks in disease models., G4338327699, G4690206792, G6228819544, G657380419, G6823653762, Understanding the genetic basis of common human diseases: core funding for the Wellcome Trust Centre for Human Genetics., G7017537207, Analysis of quantitative trait networks in disease models., Construction of 100 recombinant inbred lines of genetically diverse mice., G9000090841
OpenAlex ID: W2005501593