Population genomics of East Asian ethnic groups
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Population genomics of East Asian ethnic groups Ziqing Pan1 and Shuhua Xu1,2,3,4*
Abstract East Asia constitutes one-fifth of the global population and exhibits substantial genetic diversity. However, genetic investigations on populations in this region have been largely under-represented compared with European populations. Nonetheless, the last decade has seen considerable efforts and progress in genome-wide genotyping and whole-genome sequencing of the East-Asian ethnic groups. Here, we review the recent studies in terms of ancestral origin, population relationship, genetic differentiation, and admixture of major East- Asian groups, such as the Chinese, Korean, and Japanese populations. We mainly focus on insights from the whole-genome sequence data and also include the recent progress based on mitochondrial DNA (mtDNA) and Y chromosome data. We further discuss the evolutionary forces driving genetic diversity in East-Asian populations, and provide our perspectives for future directions on population genetics studies, particularly on underrepresented indigenous groups in East Asia. Keywords: Population genetics, Whole-genome sequence data, East Asian, Evolutionary forces
Background In the past two decades, novel methods were developed and facilitated in the generation of large genomic data that researchers have used to improve our understanding of the population genetic architecture and evolutionary history of humans [1]. However, most genetic studies are based on populations of European ancestry. Non-European populations such as East Asian (EA) and African are underrepresented. The lack of ethnic diversity in human genetic studies impedes our understanding of the panorama of both the ancient human migration and the present-day human population diversity [2]. East Asians represent about 38% of the Asian population and 22% of the global population. Their population * Correspondence: [email protected] 1 Key Laboratory of Computational Biology, CAS-MPG Partner Institute for Computational Biology, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai 200031, China 2 School of Life Science and Technology, ShanghaiTech Universit, Shanghai 201210, China Full list of author information is available at the end of the article
occupied a unique geography, located on the crossroads connecting the Americas and Pacific Islands, which plays a pivotal role in human evolutionary history. The wholegenome population genetic studies on East Asians can be traced back to 2009, when the HUGO Pan-Asian SNP Consortium (HUGO-PanAsia) reported the first cohort of large-scale genome data on Asians [3]. Prior to that, population genetics studies in East Asian mainly relied on sparse markers on mtDNA and the Y chromosome [4–8]. These studies have proposed the historical models of EA population formation, origins, subsequent population migration and division, and impact of social practices on current populations. During the subsequent genome-wide
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