Abstract
Koreans are thought to be an ethnic group of admixed northern and southern subgroups. However, the exact genetic origins of these two remain unclear. In addition, the past admixture is presumed to have taken place on the Korean peninsula, but there is no genomic scale analysis exploring the origin, composition, admixture, or the past migration of Koreans. Here, 88 Korean genomes compared with 91 other present-day populations showed two major genetic components of East Siberia and Southeast Asia. Additional paleogenomic analysis with 115 ancient genomes from Pleistocene hunter-gatherers to Iron Age farmers showed a gradual admixture of Tianyuan (40 ka) and Devil’s gate (8 ka) ancestries throughout East Asia and East Siberia up until the Neolithic era. Afterward, the current genetic foundation of Koreans may have been established through a rapid admixture with ancient Southern Chinese populations associated with Iron Age Cambodians. We speculate that this admixing trend initially occurred mostly outside the Korean peninsula followed by continuous spread and localization in Korea, corresponding to the general admixture trend of East Asia. Over 70% of extant Korean genetic diversity is explained to be derived from such a recent population expansion and admixture from the South.
Highlights
The 1000 Genome Project (1KGP) showed that East Asians displayed a common genetic bottleneck with non-African humans around the last glacial maximum (1000 Genomes Project Consortium et al 2015)
In the principal component analysis (PCA), both the Koreans and East Asians b (EAb) fell between the EAa and East Siberians (Esi) populations, consistent with other previous studies (Kim and Jin 2013; Wang et al 2018)
A comprehensive genome comparison confirmed that Koreans possess dual ancestral genetic components originating broadly from East Siberia (Esi) and East Asia (EAb)
Summary
The 1000 Genome Project (1KGP) showed that East Asians displayed a common genetic bottleneck with non-African humans around the last glacial maximum (1000 Genomes Project Consortium et al 2015). The 1KGP project includes only five EA populations failing to fully represent EA genome structures. In 2009, the HUGO Pan-Asian Consortium (PASNP) confirmed a general concordance between linguistic and genetic affiliations (HUGO Pan-Asian SNP Consortium et al 2009).
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