Wang Mengge, Sun Qiuxia, Feng Yuhang, Wei Lan-Hai, Liu Kaijun, Luo Lintao, Huang Yuguo, Zhou Kun, Yuan Haibing, Lv Hongliang, Lu Yu, Cheng Jing, Wen Shaoqing, Wang Chuan-Chao, Tang Renkuan, Bu Fengxiao, Liu Chao, Yuan Huijun, Wang Zhiyong, He Guanglin
Institute of Rare Diseases, Frontiers Science Center for Disease-related Molecular Network, West China Hospital, Sichuan University, Chengdu, Sichuan 610000, China; Center for Archaeological Science, Sichuan University, Chengdu, Sichuan 610000, China; Anti-Drug Technology Center of Guangdong Province, Guangzhou, Guangdong 510230, China; Department of Forensic Medicine, College of Basic Medicine, Chongqing Medical University, Chongqing 400331, China; Human Genetics and Forensic Genomics Research Institute, College of Basic Medicine, Chongqing Medical University, Chongqing 400331, China.
Institute of Rare Diseases, Frontiers Science Center for Disease-related Molecular Network, West China Hospital, Sichuan University, Chengdu, Sichuan 610000, China; Center for Archaeological Science, Sichuan University, Chengdu, Sichuan 610000, China; Department of Forensic Medicine, College of Basic Medicine, Chongqing Medical University, Chongqing 400331, China; Human Genetics and Forensic Genomics Research Institute, College of Basic Medicine, Chongqing Medical University, Chongqing 400331, China.
J Genet Genomics. 2025 Apr;52(4):502-512. doi: 10.1016/j.jgg.2024.11.012. Epub 2024 Nov 27.
The reconstruction of demographic history using ancient and modern genomic resources reveals extensive interactions and admixture between ancient nomadic pastoralists and the social organizations of the Chinese Central Plain. However, the extent to which Y-chromosome genetic legacies from nomadic emperor-related ancestral lineages influence the Chinese paternal gene pool remains unclear. Here, we genotype 2717 ethnolinguistically diverse samples belonging to C2a lineages, perform whole-genome sequencing on 997 representative samples, and integrate these data with ancient genomic sequences. We reconstruct the evolutionary histories of Northern Zhou-, Qing emperor-, and pastoralist-related lineages to assess their genetic impact on modern Chinese populations. This reassembled fine-scale Y-chromosome phylogeny identifies deep divergence and five Neolithic expansion events contributing differently to the formation of northern Chinese populations. Phylogeographic modeling indicates that the nomadic empires of the Northern Zhou and Qing dynasties genetically originated from the Mongolian Plateau. Phylogenetic topology and shared haplotype patterns show that three upstream ancestors of Northern Zhou (C2a1a1b1a2a1b-FGC28857), Donghu tribe (C2a1a1b1-F1756), and Qing (C2a1a3a2-F10283) emperor-related lineages expanded during the middle Neolithic, contributing significantly to genetic flow between ancient northeastern Asians and modern East Asians. Notably, this study reveals limited direct contributions of Emperor Wu of Northern Zhou's lineages to modern East Asians.
利用古代和现代基因组资源重建人口历史，揭示了古代游牧牧民与中国中原地区社会组织之间广泛的互动和混合。然而，来自与游牧帝王相关的祖先谱系的Y染色体遗传遗产对中国父系基因库的影响程度仍不清楚。在这里，我们对属于C2a谱系的2717个语言文化多样的样本进行基因分型，对997个代表性样本进行全基因组测序，并将这些数据与古代基因组序列整合。我们重建了与北周、清朝皇帝和牧民相关谱系的进化历史，以评估它们对现代中国人群的遗传影响。这个重新组装的精细Y染色体系统发育树确定了深度分歧和五个新石器时代扩张事件，它们对中国北方人群的形成有不同的贡献。系统地理学模型表明，北周和清朝的游牧帝国在基因上起源于蒙古高原。系统发育拓扑结构和共享单倍型模式表明，北周（C2a1a1b1a2a1b-FGC28857）、东胡部落（C2a1a1b1-F1756）和清朝（C2a1a3a2-F10283）皇帝相关谱系的三个上游祖先在新石器时代中期扩张，对古代东北亚人和现代东亚人之间的基因流动有重大贡献。值得注意的是，这项研究揭示了北周武帝谱系对现代东亚人的直接贡献有限。
