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绘制中世纪个体基因组与现代欧洲人之间的共同祖先关系图谱。

Mapping co-ancestry connections between the genome of a Medieval individual and modern Europeans.

机构信息

Institute of Evolutionary Biology (CSIC-Universitat Pompeu Fabra), 08003, Barcelona, Spain.

Department of Evolutionary Anthropology, University of Vienna, Vienna, Austria.

出版信息

Sci Rep. 2020 Apr 22;10(1):6843. doi: 10.1038/s41598-020-64007-2.

Abstract

Historical genetic links among similar populations can be difficult to establish. Identity by descent (IBD) analyses find genomic blocks that represent direct genealogical relationships among individuals. However, this method has rarely been applied to ancient genomes because IBD stretches are progressively fragmented by recombination and thus not recognizable after few tens of generations. To explore such genealogical relationships, we estimated long IBD blocks among modern Europeans, generating networks to uncover the genetic structures. We found that Basques, Sardinians, Icelanders and Orcadians form, each of them, highly intraconnected sub-clusters in a European network, indicating dense genealogical links within small, isolated populations. We also exposed individual genealogical links -such as the connection between one Basque and one Icelandic individual- that cannot be uncovered with other, widely used population genetics methods such as PCA or ADMIXTURE. Moreover, using ancient DNA technology we sequenced a Late Medieval individual (Barcelona, Spain) to high genomic coverage and identified IBD blocks shared between her and modern Europeans. The Medieval IBD blocks are statistically overrepresented only in modern Spaniards, which is the geographically closest population. This approach can be used to produce a fine-scale reflection of shared ancestry across different populations of the world, offering a direct genetic link from the past to the present.

摘要

历史上相似人群之间的遗传联系可能难以建立。通过血统同一性 (IBD) 分析可以找到代表个体之间直接血缘关系的基因组块。然而,这种方法很少应用于古代基因组,因为 IBD 延伸在几十代后会因重组而逐渐碎片化,因此无法识别。为了探索这种血缘关系,我们估计了现代欧洲人中的长 IBD 块,生成网络以揭示遗传结构。我们发现,巴斯克人、撒丁岛人、冰岛人和奥克尼群岛人各自形成了在欧洲网络中高度相互连接的亚群,这表明在小而孤立的人群中存在密集的血缘关系。我们还揭示了个体的血缘关系,例如一个巴斯克人和一个冰岛人之间的联系,这些联系无法通过其他广泛使用的群体遗传学方法(如 PCA 或 ADMIXTURE)来揭示。此外,我们使用古代 DNA 技术对一个中世纪晚期个体(西班牙巴塞罗那)进行了高基因组覆盖度测序,并在她和现代欧洲人之间鉴定了 IBD 块。中世纪的 IBD 块仅在地理上最接近的现代西班牙人中具有统计学上的过表达,这表明他们之间存在共享的血缘关系。这种方法可用于生成世界各地不同人群之间共享祖先的精细反映,提供从过去到现在的直接遗传联系。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/17d7/7176696/2c8bafe43c3f/41598_2020_64007_Fig1_HTML.jpg

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