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MBE Advance Access originally published online on October 13, 2004
Molecular Biology and Evolution 2005 22(2):189-192; doi:10.1093/molbev/msi013
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Molecular Biology and Evolution vol. 22 no. 2 © Society for Molecular Biology and Evolution 2005; all rights reserved.

Evidence for Archaic Asian Ancestry on the Human X Chromosome

Daniel Garrigan*, Zahra Mobasher*, Tesa Severson*, Jason A. Wilder* and Michael F. Hammer*,{dagger}

* Division of Biotechnology, and {dagger} Department of EEB, University of Arizona, Tucson

E-mail: mfh{at}u.arizona.edu.

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.

Key Words: hybridization • human origins • polymorphism • population subdivision • pseudogene


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