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Mouse genomic variation and its effect on phenotypes and gene regulation

机译：小鼠基因组变异及其对表型和基因调控的影响

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摘要

实验鼠已成为生物医学研究的“驮马”。小鼠参照基因组的序列初稿是2002年发表的，但一些变异形式仍不是很清楚。本期Nature上两篇论文在填补这些空白方面取得了很大进展。来自17个关键小鼠基因组(包括大多数常用的内交品系和它们的先祖)的序列的生成和分析，显示了广泛的基因变异，为了解功能变异体的分子性质以及实验鼠的系统发生史提供了见解。%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.
机译：实验鼠已成为生物医学研究的“驮马”。小鼠参照基因组的序列初稿是2002年发表的，但一些变异形式仍不是很清楚。本期Nature上两篇论文在填补这些空白方面取得了很大进展。来自17个关键小鼠基因组(包括大多数常用的内交品系和它们的先祖)的序列的生成和分析，显示了广泛的基因变异，为了解功能变异体的分子性质以及实验鼠的系统发生史提供了见解。%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.

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  • 来源
    《Nature》 |2011年第7364期|p.289-294a25|共7页
  • 作者

    Thomas M. Keane; Leo Goodstadt; Petr Danecek; Michael A. White; Kim Wong; etal;

  • 作者单位

    The Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1HH, UK;

    The Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford 0X3 7BN, UK;

    The Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1HH, UK;

    Laboratory of Genetics, University of Wisconsin, Madison, Wisconsin 53706, USA;

    The Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1HH, UK;

  • 收录信息 美国《科学引文索引》(SCI);美国《工程索引》(EI);美国《生物学医学文摘》(MEDLINE);美国《化学文摘》(CA);
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  • 正文语种 eng
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