Human paternal and maternal demographic histories: insights from high-resolution Y chromosome and mtDNA sequences

Abstract To investigate in detail the paternal and maternal demographic histories of humans, we obtained ∼500 kb of non-recombining Y chromosome (NRY) sequences and complete mtDNA genome sequences from 623 males from 51 populations in the CEPH Human Genome Diversity Panel (HGDP). Our results: confirm the controversial assertion that genetic differences between human populations on a global scale are bigger for the NRY than for mtDNA; suggest very small ancestral effective population sizes (<100) for the out-of-Africa migration as well as for many human populations; and indicate that the ratio of female effective population size to male effective population size (N f /N m ) has been greater than one throughout the history of modern humans, and has recently increased due to faster growth in N f . However, we also find substantial differences in patterns of mtDNA vs. NRY variation in different regional groups; thus, global patterns of variation are not necessarily representative of specific geographic regions.

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