The Y-chromosome haplogroup C3*-F3918, likely attributed to the Mongol Empire, can be traced to a 2500-year-old nomadic group


The Mongol Empire had a significant role in shaping the landscape of modern populations. Many populations living in Eurasia may have been the product of population mixture between ancient Mongolians and natives following the expansion of Mongol Empire. Geneticists have found that most of these populations carried the Y-haplogroup C3* (C-M217). To trace the history of haplogroup (Hg) C3* and to further understand the origin and development of Mongolians, ancient human remains from the Jinggouzi, Chenwugou and Gangga archaeological sites, which belonged to the Donghu, Xianbei and Shiwei, respectively, were analysed. Our results show that nine of the eleven males of the Gangga site, two of the eight males of Chengwugou site and all of the twelve males of Jinggouzi site were found to have mutations at M130 (Hg C), M217 (Hg C3), L1373 (C2b, ISOGG2015), with the absence of mutations at M93 (Hg C3a), P39 (Hg C3b), M48 (Hg C3c), M407 (Hg C3d) and P62 (Hg C3f). These samples were attributed to the Y-chromosome Hg C3* (Hg C2b, ISOGG2015), and most of them were further typed as Hg C2b1a based on the mutation at F3918. Finally, we inferred that the Y-chromosome Hg C3*-F3918 can trace its origins to the Donghu ancient nomadic group.

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This work was supported by grants from the National Natural Science Foundation of China (Grant No. 31371266). We are grateful to Dr. Guoxiang Liu of the Institute of Archaeology, Chinese Academy of Social Sciences, and the Institute of Cultural and Historical Relics and Archaeology in the Inner Mongolia Nationality Autonomous Region in China for providing the samples.

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Correspondence to Yongbin Zhao or Hui Zhou.

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This study was approved by the Institute of Cultural and Historical Relics and Archaeology in the Inner Mongolia Nationality Autonomous Region in China, and the State Administration of Cultural Heritage of China. All necessary permits were obtained for the described study, which complied with all relevant regulations. We have no financial and personal relationships with people or organisations that can inappropriately influence our work.

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Zhang, Y., Wu, X., Li, J. et al. The Y-chromosome haplogroup C3*-F3918, likely attributed to the Mongol Empire, can be traced to a 2500-year-old nomadic group. J Hum Genet 63, 231–238 (2018).

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