Mouse genomic variation and its effect on phenotypes and gene regulation

作者:Keane Thomas M; Goodstadt Leo; Danecek Petr; White Michael A; Wong Kim; Yalcin Binnaz; Heger Andreas; Agam Avigail; Slater Guy; Goodson Martin; Furlotte Nicholas A; Eskin Eleazar; Nellaker Christoffer; Whitley Helen; Cleak James; Janowitz Deborah; Hernandez Pliego Polinka; Edwards Andrew; Belgard T Grant; Oliver Peter L; McIntyre Rebecca E; Bhomra Amarjit; Nicod Jerome; Gan Xiangchao; Yuan Wei; van der Weyden Louise; Steward Charles A; Bala Sendu; Stalker Jim
来源:Nature, 2011, 477(7364): 289-294.
DOI:10.1038/nature10413

摘要

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.

  • 出版日期2011-9-15