Y chromosome sequence variation and the history of human populations

Underhill PA;Shen PD;Lin AA;Jin L;Passarino G;Yang WH;Kauffman E;Bonne Tamir B;Bertranpetit J;FRANCALACCI, Paolo;Ibrahim M;Jenkins T;Kidd JR;Mehdi SQ;Seielstad MT;Wells RS;Piazza A;Davis RW;Feldman MW;Cavalli Sforza LL;Oefner PJ

2000-01-01

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Abstract

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 history1. 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.