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Letter

Nature Genetics 26, 358–361 (1 November 2000) | doi:10.1038/81685

Y chromosome sequence variation and the history of human populations

Peter A. Underhill , Peidong Shen , Alice A. Lin , Li Jin , Giuseppe Passarino , Wei H. Yang , Erin Kauffman , Batsheva Bonn|[eacute]|-Tamir , Jaume Bertranpetit , Paolo Francalacci , Muntaser Ibrahim , Trefor Jenkins , Judith R. Kidd , S. Qasim Mehdi , Mark T. Seielstad , R. Spencer Wells , Alberto Piazza , Ronald W. Davis , Marcus W. Feldman , L. Luca Cavalli-Sforza & Peter. J. Oefner

Binary polymorphisms associated with the non-recombining region of the human Y chromosome (NRY) preserve the paternal genetic legacy of our species that has persisted to the present, permitting inference of human evolution, population affinity and demographic history. We used denaturing high-performance liquid chromatography (DHPLC; ref. 2) to identify 160 of the 166 bi-allelic and 1 tri-allelic site that formed a parsimonious genealogy of 116 haplotypes, several of which display distinct population affinities based on the analysis of 1062 globally representative individuals. A minority of contemporary East Africans and Khoisan represent the descendants of the most ancestral patrilineages of anatomically modern humans that left Africa between 35,000 and 89,000 years ago.