Use of y chromosome and mitochondrial DNA population structure in tracing human migrations

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.

Publication types

  • Review

MeSH terms

  • Biological Evolution
  • Chromosomes, Human, Y*
  • DNA, Mitochondrial / genetics*
  • Genome, Human
  • Humans
  • Population Dynamics*


  • DNA, Mitochondrial