Deka R, Jin L, Shriver M D, Yu L M, Saha N, Barrantes R, Chakraborty R, Ferrell R E
Department of Human Genetics, University of Pittsburgh, Pennsylvania 15261, USA.
Genome Res. 1996 Dec;6(12):1177-84. doi: 10.1101/gr.6.12.1177.
We have analyzed five microsatellite loci from the nonrecombining portion of the human Y chromosome in 15 diverse human populations to evaluate their usefulness in the reconstruction of human evolution and early male migrations. The results show that, in general, most populations have the same set of the most frequent alleles at these loci. Hypothetical ancestral haplotypes, reconstructed on the basis of these alleles and their close derivatives, are shared by multiple populations across racial and geographical boundaries. A network of the observed haplotypes is characterized by a lack of clustering of geographically proximal populations. In spite of this, few distinct clusters of closely related populations emerged in the network, which are associated with population-specific alleles. A tree based on allele frequencies also shows similar results. Lack of haplotypic structure associated with the presumed ancestral haplotypes consisting of individuals from almost all populations indicate a recent common ancestry and/or extensive male migration during human evolutionary history. The convergent nature of microsatellite mutation confounds population relationships. Optimum resolution of Y chromosome evolution will require the use of additional microsatellite loci and diallelic genetic markers with lower mutation rates.
我们分析了来自15个不同人类群体的人类Y染色体非重组部分的五个微卫星位点,以评估它们在重建人类进化和早期男性迁徙方面的作用。结果表明,总体而言,大多数群体在这些位点具有相同的一组最常见等位基因。基于这些等位基因及其紧密衍生物重建的假设祖先单倍型,被跨越种族和地理界限的多个群体共享。观察到的单倍型网络的特点是地理上相邻的群体缺乏聚类。尽管如此,网络中还是出现了少数由密切相关群体组成的不同聚类,这些聚类与群体特异性等位基因相关。基于等位基因频率的树状图也显示了类似的结果。几乎所有群体的个体组成的假定祖先单倍型缺乏单倍型结构,这表明在人类进化历史中存在近期的共同祖先和/或广泛的男性迁徙。微卫星突变的趋同性质混淆了群体关系。Y染色体进化的最佳分辨率将需要使用更多微卫星位点和较低突变率的双等位基因遗传标记。