Underhill Peter A, Kivisild Toomas
Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305-5120, USA.
Annu Rev Genet. 2007;41:539-64. doi: 10.1146/annurev.genet.41.110306.130407.
Well-resolved molecular gene trees illustrate the concept of descent with modification and exhibit the opposing processes of drift and migration, both of which influence population structure. Phylogenies of the maternally inherited mtDNA genome and the paternally inherited portion of the nonrecombining Y chromosome retain sequential records of the accumulation of genetic diversity. Although knowledge regarding the diversity of the entire human genome will be needed to completely characterize human genetic evolution, these uniparentally inherited loci are unique indicators of gender in modulating the extant population structure. We compare and contrast these loci for patterns of continuity and discreteness and discuss how their phylogenetic diversity and progression provide means to disentangle ancient colonization events by pioneering migrants from subsequent overlying migrations. We introduce new results concerning Y chromosome founder haplogroups C, DE, and F that resolve their previous trifurcation and improve the harmony with the mtDNA recapitulation of the out-of-Africa migration.
解析良好的分子基因树阐释了带有修饰的遗传概念,并展现了漂变和迁移这两种相反的过程,这两者都会影响种群结构。母系遗传的线粒体DNA基因组和非重组Y染色体的父系遗传部分的系统发育保留了遗传多样性积累的连续记录。尽管要完全描述人类遗传进化需要了解整个人类基因组的多样性,但这些单亲遗传的基因座是调节现存种群结构中性别差异的独特指标。我们比较并对比了这些基因座的连续性和离散性模式,并讨论了它们的系统发育多样性和进化过程如何为区分古代开拓者移民的殖民事件与随后的叠加移民事件提供方法。我们介绍了关于Y染色体奠基单倍群C、DE和F的新结果,这些结果解决了它们之前的三分问题,并改善了与走出非洲迁移的线粒体DNA概括的一致性。