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Fine-scale recombination rate differences between sexes, populations and individuals

机译：性别，人口和个人之间的小规模重组率差异

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摘要

Meiotic recombinations contribute to genetic diversity by yielding new combinations of alleles. Recently, high-resolution recombination maps were inferred from high-density single-nucleotide polymorphism (SNP) data using linkage disequilibrium (LD) patterns that capture historical recombination events. The use of these maps has been demonstrated by the identification of recombination hotspots and associated motifs, and the discovery that the PRDM9 gene affects the proportion of recombinations occurring at hot-spots. However these maps provide no information about individual or sex differences. Moreover locus-specific demographic factors like natural selection can bias LD-based estimates of recombination rate. Existing genetic maps based on family data avoid these shortcomings, but their resolution is limited by relatively few meioses and a low density of markers. Here we used genome-wide SNP data from 15,257 parent-offspring pairs to construct the first recombination maps based on directly observed recombinations with a resolution that is effective down to 10 kilobases (kb). Comparing male and female maps reveals that about 15% of hot-spots in one sex are specific to that sex. Although male recombinations result in more shuffling of exons within genes, female recombinations generate more new combinations of nearby genes We discover novel associations between recombination characteristics of individuals and variants in the PRDM9 gene and we identify new recombination hotspots. Comparisons of our maps with two LD-based maps inferred from data of HapMap populations of Utah residents with ancestry from northern and western Europe (CEU) and Yoruba in Ibadan, Nigeria (YRI) reveal population differences previously masked by noise and map differences at regions previously described as targets of natural selection.
机译：减数分裂重组通过产生等位基因的新组合而有助于遗传多样性。最近，使用捕获历史重组事件的连锁不平衡（LD）模式，从高密度单核苷酸多态性（SNP）数据推断出高分辨率重组图。通过鉴定重组热点和相关基序，以及发现PRDM9基因会影响在热点发生的重组比例，证明了这些图谱的使用。但是，这些地图没有提供有关个人或性别差异的信息。此外，特定于基因座的人口统计学因素（例如自然选择）可能会使基于LD的重组率估算值产生偏差。现有的基于家族数据的遗传图谱可以避免这些缺点，但是它们的分辨率受到相对较少的基因表达和低密度标记的限制。在这里，我们使用了来自15257个亲子对的全基因组SNP数据，以直接观察到的重组为基础构建了第一个重组图，有效分辨率低至10 kb（kb）。比较男性和女性地图可发现，一种性别中约有15％的热点是该性别所特有的。尽管男性重组导致基因内外显子改组更多，但女性重组产生附近基因的更多新组合。我们发现个体的重组特征与PRDM9基因变异之间的新型关联，并确定了新的重组热点。我们的地图与从基于北欧和西欧（CEU）和尼日利亚伊巴丹（YRI）的约鲁巴（YRI）血统的犹他州居民的HapMap人口数据推断出的两个基于LD的地图的比较表明，人口差异以前被区域的噪声和地图差异掩盖了先前描述为自然选择的目标。

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  • 来源
    《Nature》 |2010年第7319期|p.1099-1103|共5页
  • 作者

    Augustine Kong; Gudmar Thorleifsson; Daniel F. Gudbjartsson; Gisli Masson; Asgeir Sigurdsson; Aslaug Jonasdottir; G. Bragi Walters; Adalbjorg Jonasdottir; Arnaldur Gylfason; Kari Th. Kristinsson; Sigurjon A. Gudjonsson; Michael L. Frigge; Agnar Helgason; Unnur Thorsteinsdottir; Kari Stefansson;

  • 作者单位

    deCODE genetics, Sturlugata 8,101 Reykjavik, Iceland;

    rndeCODE genetics, Sturlugata 8,101 Reykjavik, Iceland;

    rndeCODE genetics, Sturlugata 8,101 Reykjavik, Iceland;

    rndeCODE genetics, Sturlugata 8,101 Reykjavik, Iceland;

    rndeCODE genetics, Sturlugata 8,101 Reykjavik, Iceland;

    rndeCODE genetics, Sturlugata 8,101 Reykjavik, Iceland;

    rndeCODE genetics, Sturlugata 8,101 Reykjavik, Iceland;

    rndeCODE genetics, Sturlugata 8,101 Reykjavik, Iceland;

    rndeCODE genetics, Sturlugata 8,101 Reykjavik, Iceland;

    rndeCODE genetics, Sturlugata 8,101 Reykjavik, Iceland;

    rndeCODE genetics, Sturlugata 8,101 Reykjavik, Iceland;

    rndeCODE genetics, Sturlugata 8,101 Reykjavik, Iceland;

    rndeCODE genetics, Sturlugata 8,101 Reykjavik, Iceland,Department of Anthropology, University of Iceland, Saemundargoetu 2,101 Reykjavik, Iceland;

    rndeCODE genetics, Sturlugata 8,101 Reykjavik, Iceland,Faculty of Medicine, University of Iceland, Sasmundargoetu 2,101 Reykjavik, Iceland;

    rndeCODE genetics, Sturlugata 8,101 Reykjavik, Iceland,Faculty of Medicine, University of Iceland, Sasmundargoetu 2,101 Reykjavik, Iceland;

  • 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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