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对 175 名蒙古人的全基因组测序揭示了整个北亚和东亚的特定人群遗传结构和基因流动。

Whole-genome sequencing of 175 Mongolians uncovers population-specific genetic architecture and gene flow throughout North and East Asia.

机构信息

School of Life Science, Inner Mongolia University for the Nationalities, Tongliao, China.

Inner Mongolia Engineering Research Center of Personalized Medicine, Tongliao, China.

出版信息

Nat Genet. 2018 Dec;50(12):1696-1704. doi: 10.1038/s41588-018-0250-5. Epub 2018 Nov 5.

DOI:10.1038/s41588-018-0250-5
PMID:30397334
Abstract

The genetic variation in Northern Asian populations is currently undersampled. To address this, we generated a new genetic variation reference panel by whole-genome sequencing of 175 ethnic Mongolians, representing six tribes. The cataloged variation in the panel shows strong population stratification among these tribes, which correlates with the diverse demographic histories in the region. Incorporating our results with the 1000 Genomes Project panel identifies derived alleles shared between Finns and Mongolians/Siberians, suggesting that substantial gene flow between northern Eurasian populations has occurred in the past. Furthermore, we highlight that North, East, and Southeast Asian populations are more aligned with each other than these groups are with South Asian and Oceanian populations.

摘要

目前对北亚人群的遗传变异研究还不够充分。为了解决这一问题,我们对 175 名代表六个部落的蒙古族裔进行了全基因组测序,构建了一个新的遗传变异参考面板。该面板中的变异图谱显示了这些部落之间存在强烈的群体分层现象,这与该地区多样化的人口历史有关。将我们的结果与 1000 基因组计划面板相结合,确定了芬兰人和蒙古人/西伯利亚人之间共享的衍生等位基因,这表明过去北欧亚人群之间发生了大量的基因流动。此外,我们还强调,东亚、东南亚和东北亚人群彼此之间的相似度要高于它们与南亚和大洋洲人群的相似度。

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