The Origin and Composition of Korean Ethnicity Analyzed by Ancient and Present-Day Genome Sequences

Author:

Kim Jungeun1,Jeon Sungwon23,Choi Jae-Pil1,Blazyte Asta2,Jeon Yeonsu23,Kim Jong-Il4,Ohashi Jun5,Tokunaga Katsushi6,Sugano Sumio7,Fucharoen Suthat8,Al-Mulla Fahd9,Bhak Jong12310ORCID

Affiliation:

1. Personal Genomics Institute (PGI), Genome Research Foundation, Osong, Republic of Korea

2. Korean Genomics Center (KOGIC), Ulsan National Institute of Science and Technology (UNIST), Ulsan, Republic of Korea

3. Department of Biomedical Engineering, School of Life Sciences, Ulsan National Institute of Science and Technology (UNIST), Ulsan, Republic of Korea

4. Department of Archaeology and Art History, Seoul National University, Republic of Korea

5. Department of Biological Sciences, Graduate School of Medicine, The University of Tokyo, Japan

6. Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, Japan

7. Department of Medical Genome Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Japan

8. Thalassemia Research Center, Institute of Molecular Biosciences, Mahidol University, Nakorn Pathom, Thailand

9. Center of Genomic Medicine, Kuwait University, Kuwait

10. Clinomics Inc, Ulsan, Republic of Korea

Abstract

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.

Funder

Technology Innovation Program

Development and Dissemination on National Standard Reference Data

Ministry of Trade, Industry & Energy

U-K BRAND Research Fund

UNIST

Ulsan National Institute of Science & Technology

Ulsan City Research Fund

Research Project Funded by Ulsan City Research Fund

Publisher

Oxford University Press (OUP)

Subject

Genetics,Ecology, Evolution, Behavior and Systematics

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