ORIGINS AND PHYLOGENY OF MODERN HUMAN POPULATIONS INFERRED FROM DNA POLYMORPHISMS

对来自北亚、东亚、东南亚和世界其他地区的14个全球人口的610个男性样本的Y染色体非重组部分的DNA变异进行了检测。对7个双等位基因多态标记(DYS257_108、DYS287、SRY_4064、SRY_10831、RPS4Y_711、M9和M15)进行分析，发现8种单倍型在群体间分布不均。8个单倍型的最大简约树表明，这些单倍型可分为4个不同的谱系，其特征是三个关键突变：在DYS287插入Y Alu多态(YAP)元素，在M9发生C-G转换，在RPS4Y_711发生C-T转换。在这四个家系中，三个主要家系(分别由YAP、M9-G和RPS4Y_711-T的等位基因定义)占所研究亚洲人群的98.6%，表明这三个父系对现代亚洲人群的形成起到了贡献。此外，系统发育分析还发现了三个亚洲单系类群，分别由北亚、日本和汉族/东南亚种群组成。单倍型树中的合并分析显示，三个关键突变的估计年龄在53,000到95,000年之间，这表明这三个谱系在人类进化史的早期阶段是相互分离的。Y单倍型的分布模式和关键标记的突变年龄表明，具有不同父系祖先的三个主要群体分别迁移到史前的东亚和东南亚

DNA variation on the non-recombining portion of the Y chromosome was examined in 610 male samples from 14 global populations in north, east, and southeast Asia, and other regions of the world. Eight haplotypes were observed by analyzes of seven biallelic polymorphic markers (DYS257_108, DYS287, SRY_4064, SRY_10831, RPS4Y_711, M9, and M15) and were unevenly distributed among the populations. Maximum parsimony tree for the eight haplotypes showed that these haplotypes could be classified into four distinct lineages characterized by three key mutations : an insertion of the Y Alu polymorphic (YAP) element at DYS287, a C-to-G transversion at M9, and a C-to-T transition at RPS4Y_711 of the four lineages, three major lineages (defined by the allele of YAP, M9-G, and RPS4Y_711-T, respectively) accounted for 98.6% of the Asian populations studied, indicating that these three paternal lineages have contributed to the formation of modem Asian populations. Moreover, phylogenetic analysis revealed three monophyletic Asian clusters, which consisted of north Asian, Japanese, and Han Chinese/southeast Asian populations, respectively. Coalescence analysis in the haplotype tree showed that the estimated ages for three key mutations ranged from 53,000 to 95,000 years, suggesting that the three lineages were separated from one another during early stages of human evolutionary history. The distribution patterns of the Y-haplotypes and mutational ages for the key markers suggest that three major groups with different paternal ancestries separately migrated to prehistoric east and southeast Asia