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Phylogeny of Y-chromosome haplogroup C3b-F1756, an important paternal lineage in Altaic-speaking populations

Journal of Human Genetics volume 62, pages 915918 (2017) | Download Citation


In previous studies, a specific paternal lineage with a null value for the Y-chromosome short tandem repeat (Y-STR) marker DYS448 was identified as common among Mongolic- and Turkic-speaking populations. This paternal lineage (temporarily named C3*-DYS448del) was determined to be M217+, M93–, P39–, M48–, M407–, and P53.1–, and its origin and phylogeny remain ambiguous. Here, we analyzed Y-chromosome sequences of 10 male that are related this paternal lineage and redefined it as C3b1a1a1a-F1756 (C3b-F1756). We generated a highly revised phylogenetic tree of haplogroup C3b-F1756, including 21 sub-clades and 360 non-private Y-chromosome polymorphisms. Additionally, we performed a comprehensive analysis of the C3*-DYS448del lineage in eastern Eurasia, including 18 270 samples from 297 populations. Whole Y-chromosome sequences, Y-STR haplotypes, and frequency data were used to generate a distribution map, a network, and age estimations for lineage C3*-DYS448del and its sub-lineages. Considering the historical records of the studied populations, we propose that two major sub-branches of C3b-F1756 may correspond to early expansions of ancestors of modern Mongolic- and Turkic-speaking populations. The large number of newly defined Y-chromosome polymorphisms and the revised phylogenetic tree for C3b-F1756 will assist in investigation of the early history of Altaic-speaking populations in the future.

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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), MOE Scientific Research Project (113022A), Ministry of Science and Technology of China (MOST) (2016YFC0900300), and Shanghai Shuguang Project (14SG05).

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Author notes

    • Lan-Hai Wei
    •  & Yun-Zhi Huang

    These authors contributed equally to this work.


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

    • Lan-Hai Wei
    • , Yun-Zhi Huang
    • , Shi Yan
    • , Shao-Qing Wen
    • , Ling-Xiang Wang
    • , Pan-Xin Du
    • , Da-Li Yao
    • , Shi-Lin Li
    • , Ya-Jun Yang
    • , Li Jin
    •  & Hui Li
  2. Institut National des Langues et Civilisations Orientales, Paris, France

    • Lan-Hai Wei
  3. Center for Historical Geographical Studies of Fudan University, Shanghai, China

    • Da-Li Yao


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The authors declare no conflict of interest.

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Correspondence to Hui Li.

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