The Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1HH, UK.
Nature. 2011 Sep 14;477(7364):289-94. doi: 10.1038/nature10413.
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.
我们报告了 17 个近交系实验室小鼠的基因组序列，鉴定出的变异数量比之前已知的多出近十倍。我们利用这些基因组来探索实验室小鼠的系统发育历史，并研究等位基因特异性变异对转录丰度的功能后果，结果表明至少有 12%的转录本表现出显著的组织特异性表达偏向。通过在 718 个数量性状位点鉴定候选功能变异，我们发现功能变异的分子性质及其相对于基因的位置因位点的效应大小而异。这些序列为关键模式生物的功能分析新时代提供了起点。
