Wang Zhiyong, Wang Mengge, Hu Liping, He Guanglin, Nie Shengjie
School of Forensic Medicine, Kunming Medical University, Kunming, 650500, China.
Institute of Rare Diseases, West China Hospital of Sichuan University, Sichuan University, Chengdu, 610000, China.
Heliyon. 2024 Apr 30;10(9):e30067. doi: 10.1016/j.heliyon.2024.e30067. eCollection 2024 May 15.
Human Y-chromosomes are characterized by nonrecombination and uniparental inheritance, carrying traces of human history evolution and admixture. Large-scale population-specific genomic sources based on advanced sequencing technologies have revolutionized our understanding of human Y chromosome diversity and its anthropological and forensic applications. Here, we reviewed and meta-analyzed the Y chromosome genetic diversity of modern and ancient people from China and summarized the patterns of founding lineages of spatiotemporally different populations associated with their origin, expansion, and admixture. We emphasized the strong association between our identified founding lineages and language-related human dispersal events correlated with the Sino-Tibetan, Altaic, and southern Chinese multiple-language families related to the Hmong-Mien, Tai-Kadai, Austronesian, and Austro-Asiatic languages. We subsequently summarize the recent advances in translational applications in forensic and anthropological science, including paternal biogeographical ancestry inference (PBGAI), surname investigation, and paternal history reconstruction. Whole-Y sequencing or high-resolution panels with high coverage of terminal Y chromosome lineages are essential for capturing the genomic diversity of ethnolinguistically diverse East Asians. Generally, we emphasized the importance of including more ethnolinguistically diverse, underrepresented modern and spatiotemporally different ancient East Asians in human genetic research for a comprehensive understanding of the paternal genetic landscape of East Asians with a detailed time series and for the reconstruction of a reference database in the PBGAI, even including new technology innovations of Telomere-to-Telomere (T2T) for new genetic variation discovery.
人类Y染色体具有非重组和单亲遗传的特征，承载着人类历史演化和混合的痕迹。基于先进测序技术的大规模特定人群基因组资源彻底改变了我们对人类Y染色体多样性及其在人类学和法医学应用方面的理解。在这里，我们回顾并荟萃分析了来自中国的现代人和古代人的Y染色体遗传多样性，并总结了与时空不同人群的起源、扩张和混合相关的奠基谱系模式。我们强调了我们所确定的奠基谱系与语言相关的人类扩散事件之间的紧密关联，这些事件与汉藏语系、阿尔泰语系以及与苗瑶语系、侗台语系、南岛语系和南亚语系相关的中国南方多语系家族有关。随后，我们总结了在法医学和人类学科学中的转化应用的最新进展，包括父系生物地理祖先推断（PBGAI）、姓氏调查和父系历史重建。全Y测序或对末端Y染色体谱系具有高覆盖率的高分辨率面板对于捕捉不同民族语言的东亚人的基因组多样性至关重要。总体而言，我们强调在人类遗传研究中纳入更多民族语言多样、代表性不足的现代人和时空不同的古代东亚人的重要性，以便全面了解具有详细时间序列的东亚人的父系遗传景观，并为PBGAI重建参考数据库，甚至包括用于发现新遗传变异的端粒到端粒（T2T）新技术创新。
