人类Y染色体的特征是非重组和单亲遗传,携带着人类历史进化和混合的痕迹。基于先进测序技术的大规模群体特异性基因组来源彻底改变了我们对人类Y染色体多样性及其人类学和法医应用的理解。这里,我们回顾和荟萃分析了中国现代和古代人的Y染色体遗传多样性,并总结了与其起源相关的时空不同种群的创始谱系模式,扩展,和混合物。我们强调了我们确定的创始血统与与汉藏有关的语言相关的人类传播事件之间的紧密联系,阿尔泰,和与苗族有关的南方中国多种语言家庭,Tai-Kadai,南岛人,和南亚语言。随后,我们总结了法医学和人类学科学中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,父系历史重建。具有末端Y染色体谱系高覆盖率的全Y测序或高分辨率面板对于捕获种族语言多样性的东亚人的基因组多样性至关重要。一般来说,我们强调了纳入更多种族语言多样性的重要性,在人类遗传研究中,现代和时空不同的古代东亚人的代表性不足,以便通过详细的时间序列全面了解东亚人的父系遗传景观,并在PBGAI中重建参考数据库,甚至包括端粒到端粒(T2T)的新技术创新,以发现新的遗传变异。
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.