Whole-sequence analysis indicates that the Y chromosome C2*-Star Cluster traces back to ordinary Mongols, rather than Genghis Khan

  • European Journal of Human Geneticsvolume 26pages230237 (2018)
  • doi:10.1038/s41431-017-0012-3
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The Y-chromosome haplogroup C3*-Star Cluster (revised to C2*-ST in this study) was proposed to be the Y-profile of Genghis Khan. Here, we re-examined the origin of C2*-ST and its associations with Genghis Khan and Mongol populations. We analyzed 34 Y-chromosome sequences of haplogroup C2*-ST and its most closely related lineage. We redefined this paternal lineage as C2b1a3a1-F3796 and generated a highly revised phylogenetic tree of the haplogroup, including 36 sub-lineages and 265 non-private Y-chromosome variants. We performed a comprehensive analysis and age estimation of this lineage in eastern Eurasia, including 18,210 individuals from 292 populations. We discovered that the origin of populations with high frequencies of C2*-ST can be traced to either an ancient Niru’un Mongol clan or ordinary Mongol tribes. Importantly, the age of the most recent common ancestor of C2*-ST (2576 years, 95% CI = 1975–3178) and its sub-lineages, and their expansion patterns, are consistent with the diffusion of all Mongolic-speaking populations, rather than Genghis Khan himself or his close male relatives. We concluded that haplogroup C2*-ST is one of the founder paternal lineages of all Mongolic-speaking populations, and direct evidence of an association between C2*-ST and Genghis Khan has yet to be discovered.

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We are grateful to all sample donors. LHW was supported by Future Scientists Project of China Scholarship Council. This work was supported by NSFC for Excellent Young Scholar (nos 31222030, 31671297, 31271338, 31401060, 31501011, 91331204), MOE Scientific Research Project (113022A), Ministry of Science and Technology of China (MOST) (2016YFC0900300), Shanghai Shuguang Project (14SG05), and Science and Technology Commission of Shanghai Municipality (STCSM) (14YF1406800). The funders had no role in study design, data collection, and analysis, decision to publish, or preparation of the manuscript.

Author contributions

LHW and SY carried out the molecular genetic studies and drafted the manuscript. YL, SY, SQW, YJY, SLL, XFW, CZ, and SHX collected the samples. YL, CZ, SHX, SQW, and LHW participated in the experiments. YZH and LXW participated in the statistical analysis. DLY helped to analyze the history records. JL and HL designed the study and revised the manuscript. All authors read and approved the final manuscript.

Author information

Author notes


    1. MOE Key Laboratory of Contemporary Anthropology, Collaborative Innovation Center for Genetics and Development, School of Life Sciences, Fudan University, 200438, Shanghai, China

      • Lan-Hai Wei
      • , Shi Yan
      • , Shao-Qing Wen
      • , Yun-Zhi Huang
      • , Ling-Xiang Wang
      • , Shi-Lin Li
      • , Ya-Jun Yang
      • , Xiao-Feng Wang
      • , Shu-Hua Xu
      • , Li Jin
      •  & Hui Li
    2. Institut National des Langues et Civilisations Orientales, 75214, Paris, France

      • Lan-Hai Wei
    3. Chinese Academy of Sciences and Max Planck Society (CAS-MPG) Partner Institute for Computational Biology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai, China

      • Yan Lu
      • , Chao Zhang
      •  & Shu-Hua Xu
    4. University of Chinese Academy of Sciences, 100049, Beijing, China

      • Chao Zhang
      •  & Shu-Hua Xu
    5. School of Life Science and Technology, ShanghaiTech University, 201210, Shanghai, China

      • Shu-Hua Xu
    6. Center for Historical Geographical Studies of Fudan University, 200433, Shanghai, China

      • Da-Li Yao


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    Conflict of interest

    The authors declare that they have no competing interests.

    Corresponding author

    Correspondence to Hui Li.

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