The Architecture of Long-Range Haplotypes Shared within and across Populations
The Architecture of Long-Range Haplotypes Shared within and across Populations
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DOI：
10.1093/molbev/msr133
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发表时间：
2012-02-01
影响因子：
10.7
通讯作者：
Pe'er, Itsik
中科院分区：
文献类型：
--
作者：
Gusev, Alexander;Palamara, Pier Francesco;Pe'er, Itsik
近亲或远亲的基因组中的同源长片段沿着来自共同祖先的血统相同（IBD），为人类遗传学中最近发生的事件提供了线索。我们着手在大型队列中广泛绘制这些IBD片段，并研究它们在不同人群中的分布。我们报告了几个数据集的分析，表明IBD比群体遗传学的幼稚模型预期的更常见。我们发现，IBD对的频率是人口依赖性的，可以用来集群到人口中的个人，检测一个更大的队列中的同质亚群，并推断在这样的亚群瓶颈事件。具体来说，我们表明，德系犹太人的个人都通过传递远程家庭关系的共享50厘米IBD明显的公开数据集不到400个人。我们进一步揭示了在多个群体中观察到的远距离单倍型比基因组中的其他地方更频繁地共享的区域，并富集了常见的长结构变异。这些与最近的亲缘关系不一致，并表明古老的共同祖先，单倍型之间的重组有限。
Homologous long segments along the genomes of close or remote relatives that are identical by descent (IBD) from a common ancestor provide clues for recent events in human genetics. We set out to extensively map such IBD segments in large cohorts and investigate their distribution within and across different populations. We report analysis of several data sets, demonstrating that IBD is more common than expected by naive models of population genetics. We show that the frequency of IBD pairs is population dependent and can be used to cluster individuals into populations, detect a homogeneous subpopulation within a larger cohort, and infer bottleneck events in such a subpopulation. Specifically, we show that Ashkenazi Jewish individuals are all connected through transitive remote family ties evident by sharing of 50 cM IBD to a publicly available data set of less than 400 individuals. We further expose regions where long-range haplotypes are shared significantly more often than elsewhere in the genome, observed across multiple populations, and enriched for common long structural variation. These are inconsistent with recent relatedness and suggest ancient common ancestry, with limited recombination between haplotypes.