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 Bonné-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-SforzaPeter J. Oefner

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

787 Scopus citations


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.

Original languageEnglish
Pages (from-to)358-361
Number of pages4
JournalNature Genetics
Issue number3
StatePublished - 2000


FundersFunder number
National Institutes of Health
Leakey Foundation


    Dive into the research topics of 'Y chromosome sequence variation and the history of human populations'. Together they form a unique fingerprint.

    Cite this