ORIGINS AND PHYLOGENY OF MODERN HUMAN POPULATIONS INFERRED FROM DNA POLYMORPHISMS

从 DNA 多态性推断现代人类的起源和系统发育

基本信息

批准号：
12440211
负责人：
HORAI Satoshi
金额：
$ 9.66万
依托单位：
THE GRADUATE UNIVERSITY FOR ADVANCED STUDIES
依托单位国家：
日本
项目类别：
Grant-in-Aid for Scientific Research (B)
财政年份：
2000
资助国家：
日本
起止时间：
2000 至 2002
项目状态：
已结题

来源：
https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-12440211/
关键词：
MITOCHONDRIAL DNA Y CHROMOSOME HAPLOTYPE GENE PHYLOGENY POPULATION TREE CONERVAT1ON HUMAN SAMPLES POLY MORPHISMS ORIGIN OF JOMON FORMATION OF MODERN JAPANESE Y染色体ハプロタイプミトコンドリアDNA多型 Y染色体DNA多型血清タンパク質多型先住民集団塩基置換数塩基多様度人類集団の

项目摘要

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

对来自北亚、东亚和东南亚以及世界其他地区 14 个全球人群的 610 名男性样本进行了 Y 染色体非重组部分 DNA 变异的检查。通过对七个双等位基因多态性标记（DYS257_108、DYS287、SRY_4064、SRY_10831、RPS4Y_711、M9和M15）的分析观察到八种单倍型，并且在人群中分布不均匀。八个单倍型的最大简约树表明，这些单倍型可以分为四个不同的谱系，其特征在于三个关键突变：DYS287处插入Y Alu多态性（YAP）元件，M9处C到G颠换，以及四个谱系、三个主要谱系（由 YAP、M9-G 和等位基因定义）的 RPS4Y_711 处的 C 到 T 转变RPS4Y_711-T（分别为RPS4Y_711-T）占所研究的亚洲人群的98.6%，表明这三个父系谱系对现代亚洲人群的形成做出了贡献。此外，系统发育分析揭示了三个单系亚洲群，分别由北亚、日本和汉族/东南亚人群组成。单倍型树的合并分析表明，三个关键突变的估计年龄范围为 53,000 至 95,000 年，表明这三个谱系在人类进化史的早期阶段彼此分离。 Y单倍型的分布模式和关键标记的突变年龄表明，具有不同父系血统的三个主要群体分别迁移到史前东亚和东南亚