Khvorykh Gennady V, Mulyar Oleh A, Fedorova Larisa, Khrunin Andrey V, Limborska Svetlana A, Fedorov Alexei
Institute of Molecular Genetics of National Research Centre Kurchatov Institute, Moscow 123182, Russia.
CRI Genetics LLC, Santa Monica, CA 90404, USA.
Biology (Basel). 2020 Nov 10;9(11):392. doi: 10.3390/biology9110392.
We performed an exhaustive pairwise comparison of whole-genome sequences of 3120 individuals, representing 232 populations from all continents and seven prehistoric people including archaic and modern humans. In order to reveal an intricate picture of worldwide human genetic relatedness, 65 million very rare single nucleotide polymorphic (SNP) alleles have been bioinformatically processed. The number and size of shared identical-by-descent (IBD) genomic fragments for every pair of 3127 individuals have been revealed. Over 17 million shared IBD fragments have been described. Our approach allowed detection of very short IBD fragments (<20 kb) that trace common ancestors who lived up to 200,000 years ago. We detected nine distinct geographical regions within which individuals had strong genetic relatedness, but with negligible relatedness between the populations of these regions. The regions, comprising nine unique genetic components for mankind, are the following: East and West Africa, Northern Europe, Arctica, East Asia, Oceania, South Asia, Middle East, and South America. The level of admixture in every studied population has been apportioned among these nine genetic components. Genetically, long-term neighboring populations are strikingly similar to each other in spite of any political, religious, and cultural differences. The topmost admixture has been observed at the center of Eurasia. These admixed populations (including Uyghurs, Azerbaijanis, Uzbeks, and Iranians) have roughly equal genetic contributions from the Middle East, Europe, China, and India, with additional significant traces from Africa and Arctic. The entire picture of relatedness of all the studied populations unfolds and presents itself in the form of shared number/size of IBDs.
我们对3120个人的全基因组序列进行了详尽的成对比较，这些个体代表了来自各大洲的232个群体以及7个史前人类，包括古代和现代人类。为了揭示全球人类遗传相关性的复杂图景，对6500万个非常罕见的单核苷酸多态性（SNP）等位基因进行了生物信息学处理。揭示了3127个个体中每对个体的共享同源（IBD）基因组片段的数量和大小。已描述了超过1700万个共享IBD片段。我们的方法能够检测到非常短的IBD片段（<20 kb），这些片段可追溯到生活在20万年前的共同祖先。我们检测到九个不同的地理区域，区域内个体具有很强的遗传相关性，但这些区域的群体之间相关性可忽略不计。这些区域包含人类的九个独特遗传成分，分别是：东非和西非、北欧、北极地区、东亚、大洋洲、南亚、中东和南美洲。每个研究群体中的混合水平已在这九个遗传成分之间进行了分配。从基因角度来看，尽管存在政治、宗教和文化差异，长期相邻的群体彼此之间惊人地相似。在欧亚大陆中部观察到最高程度的混合。这些混合群体（包括维吾尔族、阿塞拜疆族、乌兹别克族和伊朗人）从中东、欧洲、中国和印度获得的遗传贡献大致相等，同时还有来自非洲和北极地区显著的额外遗传痕迹。所有研究群体的相关性全貌以共享IBD的数量/大小形式展现出来。
