Sequence-based characterization of structural variation in the mouse genome.
Sequence-based characterization of structural variation in the mouse genome.
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DOI：
10.1038/nature10432
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发表时间：
2011-09-14
期刊：
影响因子：
64.8
通讯作者：
Flint, Jonathan
中科院分区：
文献类型：
--
作者：
Yalcin, Binnaz;Wong, Kim;Agam, Avigail;Goodson, Martin;Keane, Thomas M.;Gan, Xiangchao;Nellaker, Christoffer;Goodstadt, Leo;Nicod, Jerome;Bhomra, Amarjit;Hernandez-Pliego, Polinka;Whitley, Helen;Cleak, James;Dutton, Rebekah;Janowitz, Deborah;Mott, Richard;Adams, David J.;Flint, Jonathan
结构变异在哺乳动物基因组中广泛存在，是疾病的重要原因，但结构变异（SV）在形成表型变异方面的丰富程度和重要性仍不清楚。如果不知道有多少SV，以及它们是如何产生的，就很难发现它们的作用。结合实验和自动化分析，我们在13个经典和4个野生近交系小鼠基因组中的0.28M位点上鉴定出0.71M SV。大多数SV的大小小于1个碱基，98%是缺失或插入。将0.16M SV的断点映射到碱基对分辨率，从而使我们能够推断反转录转座子的插入导致超过一半的SV。然而，尽管它们普遍存在，SV比其他序列变异更不可能引起基因表达或定量表型变异。我们确定了24个破坏编码外显子的SV，作为对基因功能有较大影响的罕见变体。受影响的基因中有三分之一具有免疫功能。
Structural variation is widespread in mammalian genomes and is an important cause of disease, but just how abundant and important structural variants (SVs) are in shaping phenotypic variation remains unclear. Without knowing how many SVs there are, and how they arise, it is difficult to discover what they do. Combining experimental with automated analyses, we identified 0.71M SVs at 0.28M sites in the genomes of thirteen classical and four wild-derived inbred mouse strains. The majority of SVs are less than 1 kilobase in size and 98% are deletions or insertions. The breakpoints of 0.16M SVs were mapped to base pair resolution allowing us to infer that insertion of retrotransposons causes more than half of SVs. Yet, despite their prevalence, SVs are less likely than other sequence variants to cause gene-expression or quantitative phenotypic variation. We identified 24 SVs that disrupt coding exons, acting as rare variants of large effect on gene function. One third of the genes so affected have immunological functions.
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影响因子：
30.8
作者：
Cahan, Patrick;Li, Yedda;Izumi, Masayo;Graubert, Timothy A.
通讯作者：
Graubert, Timothy A.
影响因子：
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Flint J
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Huang, Guo-Jen;Shifman, Sagiv;Flint, Jonathan
通讯作者：
Flint, Jonathan