Phylogeography of Y-chromosome haplogroup Q1a1a-M120, a paternal lineage connecting populations in Siberia and East Asia

Na Sunab, Peng-Cheng Mab, Shi Yancd, Shao-Qing Wende, Chang Sunde, Pan-Xin Dud, Hui-Zhen Chengbf, Xiao-Hua Dengab, Chuan-Chao Wangabg* & Lan-Hai Weiabdfg* a Department of Anthropology and Ethnology, Xiamen University, Xiamen, PR China; b Center for Anthropological Linguistics, Xiamen University, Xiamen, PR China; c Human Phenome Institute, Fudan University, Shanghai, PR China; d B&R International Joint Laboratory for Eurasian Anthropology, MOE Key Laboratory of Contemporary Anthropology, Fudan University, Shanghai, PR China; e Institute of Archaeological Science, Fudan University, Shanghai, PR China; f Culture Development Institute of Xiamen University, Xiamen, PR China; g Laboratory for Anthropology and Human Development, Xiamen University, Xiamen, PR China*Na Sun and Peng-Cheng Ma contributed equally to this work.#Center for collation and studies of Fujian local literature, Fujian University of Technology, Fuzhou 350118, China.Supplemental data for this article can be accessed here.CONTACT Lan-Hai Wei ryan.lan-hai.wei@xmu.edu.cnChuan-Chao Wang wang@xmu.edu.cn Department of Anthropology and Ethnology, Xiamen University, #422 South Siming Rd, Siming District, Xiamen, 361005 PR ChinaAbstractBackground: Previous studies have suggested that the human Y-chromosome haplogroup Q1a1a-M120, a widespread paternal lineage in East Asian populations, originated in South Siberia. However, much uncertainty remains regarding the origin, diversification, and expansion of this paternal lineage.Aim: To explore the origin and diffusion of paternal Q-M120 lineages in East Asia.Subjects and methods: The authors generated 26 new Y chromosome sequences of Q-M120 males and co-analysed 45 Y chromosome sequences of this haplogroup. A highly-revised phylogenetic tree of haplogroup Q-M120 with age estimates was reconstructed. Additionally, a comprehensive phylogeographic analysis of this lineage was performed including 15,007 samples from 440 populations in eastern Eurasia.Results: An ancient connection of this lineage with populations in Siberia was revealed. However, this paternal lineage experienced an in-situ expansion between 5000 and 3000 years ago in northwestern China. Ancient populations with high frequencies of Q-M120 were involved in the formation of ancient Huaxia populations before 2000 years ago; this haplogroup eventually became one of the founding paternal lineages of modern Han populations.Conclusion: This study provides a clear pattern of the origin and diffusion process of haplogroup Q1a1a-M120, as well as the role of this paternal lineage during the formation of ancient Huaxia populations and modern Han populations.