Journal of Systematics and Evolution

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  • 收稿日期:2020-05-12 接受日期:2020-11-24

Fine-scale north-to-south genetic admixture profile in Shaanxi Han Chinese revealed by genome-wide demographic history reconstruction

Guanglin He1,2,*, Mengge Wang2,*, Yingxiang Li1,*, Xing Zou2, Hui-Yuan Yeh3, Renkuan Tang4, Xiaomin Yang1, Zheng Wang2, Jianxin Guo1, Ting Luo1, Jing Zhao1, Jin Sun1, Rong Hu1, Lan-Hai Wei1, Gang Chen5,#, Yiping Hou2,#, Chuan-Chao Wang1,#   

  1. 1Department of Anthropology and Ethnology, Institute of Anthropology, National Institute for Data Science in Health and Medicine, and School of Life Sciences, Xiamen University, Xiamen, 361005, China

    2Institute of Forensic Medicine, West China School of Basic Science and Forensic Medicine, Sichuan University, Chengdu, 610065, China

    3School of Humanities, Nanyang Technological University, Nanyang, 639798, Singapore

    4Department of Forensic Medicine, College of Basic Medicine, Chongqing Medical University, Chongqing, 400331, China 5Hunan Key Lab of Bioinformatics, School of Computer Science and Engineering, Central South University, Changsha, 410075, China

  • Received:2020-05-12 Accepted:2020-11-24


The Han Chinese are the world’s largest ethnic group residing across China. Shaanxi province in northern China was a pastoral-agricultural interlacing region sensitive to climate change since Neolithic times, which makes it a vital place for studying population dynamics. However, genetic studies of Shaanxi Han are underrepresented due to the lack of high-density sampling and genome-wide data. Here, we genotyped 700,000 single nucleotide polymorphisms (SNPs) in 200 Han individuals from nine populations in Shaanxi and compared with available modern and ancient Eurasian individuals. We revealed a north-south genetic cline in Han Chinese with Shaanxi Han locating at the northern side of the cline. We detected the Western Eurasian related admixture in Shaanxi populations, especially in Guanzhong and Shanbei Han Chinese in proportions of 2%~4.6%. Shaanxi Han were suggested to derive a large part of ancestry (39%-69%) from a lineage that also contributed largely to ancient and present-day Tibetans (85%) as well as southern Han, supporting the common northern-China origin of modern Sino-Tibetan speaking populations and southwestward expansion of millet farmers from middle-upper Yellow River Basin to Tibet Plateau and to southern China. The rest of the ancestry of Shaanxi Han was from a lineage closely related to ancient and present-day Austronesian and Tai-Kadai speaking populations in southern China and Southeast Asia. We also observed a genetic substructure in Shaanxi Han in terms of north-south related ancestry corresponding well to the latitudes. Maternal mtDNA and paternal Y-chromosome lineages further demonstrated the aforementioned admixture pattern of Han Chinese in Shaanxi province.

Key words: Western Eurasian admixture, Northern Han, genetic relationship, ancestral makeup, population substructure, haplogroup