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Whole sequence analysis indicates a recent southern origin of Mongolian Y-chromosome C2c1a1a1-M407

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The Y-chromosome haplogroup C2c1a1a1-M407 is a predominant paternal lineage in Mongolic-speaking populations, especially in Buryats and Kalmyks. However, the origin and internal phylogeny of C2c1a1a1-M407 have not been investigated in detail. In this study, we analyzed twenty-three Y-chromosome sequences of haplogroup C2c1a1a1-M407 and its most closely related clades. We generated a high-resolution phylogenetic tree of haplogroup C2c1a1a1-M407 and its upstream clade C2c1a1-CTS2657, including 32 subclades and 144 non-private Y-chromosome polymorphisms. We discover that all available C2c1a1a1-M407 samples from Mongolic-speaking populations belong to its newly defined downstream clade C2c1a1a1b-F8465, whereas all samples of C2c1a1-CTS2657(xF8465) come from northern Han Chinese, Korean, and Japanese. Furthermore, we observe that C2c1a1a1b-F8465 and its subclade C2c1a1a1b1-F8536 expanded at approximately 0.86 and 0.44 thousand years ago, respectively. Therefore, we conclude that C2c1a1a1-M407 in Mongolic-speaking populations has originated from northeastern Asia. C2c1a1a1b1-F8536, the newly defined subclade of C2c1a1a1-M407, probably represents the genetic relationships between ancient Oyrats, modern Kalmyks, Mongolians, and Buryats.

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This study was supported by the National Natural Science Foundation of China (31222030 and 31671297 to H.L., 31401060 to Y.S., 31271338 to L.J., 31501011 to Y.L., 91331204 to S.H.X.), MOE Scientific Research Project (113022A to H.L.), Shanghai Shuguang Project (14SG05 to H.L.), Ministry of Science and Technology of China (MOST) (2016YFC0900300 to H.L.) and Science and Technology Commission of Shanghai Municipality (STCSM) (14YF1406800 to Y.L.). L.H.W. was supported by Future Scientists Project of China Scholarship Council. C.C.W was supported by the Nanqiang Outstanding Young Talents Program of Xiamen University. We also thank all the sample donors and the laboratory assistants.

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Correspondence to Hui Li.

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The authors declare no conflict of interest.

Research involving human participants and/or animals

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

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Informed consent was obtained from all individual participants included in the study.

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Communicated by S. Hohmann.

Yun-Zhi Huang and Lan-Hai Wei contributed equally to this work.

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Supplementary Fig. S1 Time estimates for haplogroup C2c1a1a1-M407 and its closely related clades. The red numbers directed by red arrows showed time estimate for every node, and confidence intervals were included in the brackets below. The green words were haplogroups we analyzed for time estimates. The light pink part indicated time estimates for samples from China. The light green part showed time estimates for samples from Mongolic-speaking populations (TIF 2390 KB)

Supplementary material 2 (PDF 842 KB)

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Huang, YZ., Wei, LH., Yan, S. et al. Whole sequence analysis indicates a recent southern origin of Mongolian Y-chromosome C2c1a1a1-M407. Mol Genet Genomics 293, 657–663 (2018).

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