Evidence for archaic Asian ancestry on the human X chromosome

Mol Biol Evol. 2005 Feb;22(2):189-92. doi: 10.1093/molbev/msi013. Epub 2004 Oct 13.

Abstract

The human RRM2P4 pseudogene has a pattern of nucleotide polymorphism that is unlike any locus published to date. A gene tree constructed from a 2.4-kb fragment of the RRM2P4 locus sequenced in a sample of 41 worldwide humans clearly roots in East Asia and has a most-recent common ancestor approximately 2 Myr before present. The presence of this basal lineage exclusively in Asia results in higher nucleotide diversity among non-Africans than among Africans. A global survey of a single-nucleotide polymorphism that is diagnostic for the basal, Asian lineage in 570 individuals shows that it occurs at frequencies up to 53% in south China, whereas only one of 177 surveyed Africans carries this archaic lineage. We suggest that this ancient lineage is a remnant of introgressive hybridization between expanding anatomically modern humans emerging from Africa and archaic populations in Eurasia.

Publication types

  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Africa
  • Animals
  • Asia
  • Asian People / genetics*
  • China
  • Chromosomes, Human, X / genetics*
  • Genetics, Population
  • Humans
  • Polymorphism, Genetic*
  • Pseudogenes / genetics*
  • Ribonucleoside Diphosphate Reductase / genetics*

Substances

  • ribonucleotide reductase M2
  • Ribonucleoside Diphosphate Reductase