J Syst Evol ›› 2023, Vol. 61 ›› Issue (1): 230-250.DOI: 10.1111/jse.12827

• Research Articles • Previous Articles     Next Articles

Extensive ethnolinguistic diversity at the crossroads of North China and South Siberia reflects multiple sources of genetic diversity

Guang‐Lin He1,2,3,4,5†*, Meng‐Ge Wang5,6,7†, Xing Zou5,8, Hui‐Yuan Yeh4, Chang‐Hui Liu6, Chao Liu6,7*, Gang Chen9*, and Chuan‐Chao Wang1,2*   

  1. 1 State Key Laboratory of Cellular Stress Biology, National Institute for Data Science in Health and Medicine, School of Life Sciences, Xiamen University, Xiamen 361005, China
    2 Department of Anthropology and Ethnology, Institute of Anthropology, School of Sociology and Anthropology, Xiamen University, Xiamen 361005, China
    3 Institute of Rare Diseases, West China Hospital of Sichuan University, Sichuan University, Chengdu 610044, China
    4 School of Humanities, Nanyang Technological University, Singapore 224050, Singapore
    5 Institute of Forensic Medicine, West China School of Basic Science and Forensic Medicine, Sichuan University, Chengdu 610041, China
    6 Guangzhou Forensic Science Institute, Guangzhou 510080, China
    7 Faculty of Forensic Medicine, Zhongshan School of Medicine, Sun Yat‐sen University, Guangzhou 510080, China
    8 College of Medicine, Chongqing University, Chongqing 400016, China
    9 Hunan Key Laboratory of Bioinformatics, School of Computer Science and Engineering, Central South University, Changsha 410075, China

    These authors contributed equally to this work.
    *Authors for correspondence. Guang‐Lin He. E‐mail: Guanglinhescu@163.com; Chao Liu. E‐mail: liuchaogzf@163.com; Gang Chen. E‐mail: chengangcs@gmail.com; Chuan‐Chao Wang. E‐mail: wang@xmu.edu.cn
  • Received:2021-09-30 Accepted:2021-12-27 Online:2022-01-09 Published:2023-01-01


North China and South Siberia, populated by Altaic- and Sino-Tibetan-speaking populations, possess extensive ethnolinguistic diversity and serve as the crossroads for the initial peopling of America and western–eastern transcontinental communication. However, the population genetic structure and admixture history of northern East Asians remain poorly understood due to a lack of genome-wide data, especially for Mongolic-speaking people in China. We genotyped genome-wide single nucleotide polymorphisms for 510 individuals from 38 Mongolic, Tungusic, and Sinitic-speaking populations. We first explored the shared alleles and haplotypes within the studied groups. We then merged with 3508 published modern and ancient Eurasian individuals to reconstruct the deep evolutionary and natural selection history of northern East Asians. We identified genetic substructures within Altaic-speaking populations: Western Turkic people harbored more western Eurasian-related ancestry; Northern Mongolic people in Siberia and eastern Tungusic people in Amur River Basin (ARB) possessed a majority of Neolithic ARB related ancestry; Southern Mongolic people in China possessed apparent genetic influence from Neolithic Yellow River Basin (YRB) farmers. Additionally, we found the differentiated admixture history between western and eastern Mongolians and geographically close Northeast Hans: the former received a genetic impact from western Eurasians, and the latter retained the primary Neolithic YRB and ARB ancestry. Moreover, we demonstrated that Kalmyk people from the northern Caucasus Mountains possessed a strong genetic affinity with Neolithic Mongolian Plateau (MP) people, supporting the hypothesis of their eastern Eurasian origin and long-distance migration history. We also illuminated that historical pastoral empires in the MP contributed considerably to the gene pool of northern Mongolic people but rarely to the southern ones. We finally found natural selection signatures in Mongolians associated with alcohol metabolism. Our results demonstrated that the Neolithic ancestral sources from the MP or ARB played an important role in spreading Altaic populations and languages. The observed multisources of genetic diversity contributed significantly to the extensive ethnolinguistic diversity in northern East Asia.

Key words: demic diffusion, genetic admixture, genetic diversity, Northern East Asians, population substructure