Y chromosome sequence variation and the history of human populations

Nat Genet. 2000 Nov;26(3):358-61. doi: 10.1038/81685.


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.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Africa
  • Animals
  • Chromatography, High Pressure Liquid
  • Ethnicity / genetics*
  • Evolution, Molecular*
  • Haplotypes / genetics
  • Hominidae / genetics*
  • Humans
  • Male
  • Models, Genetic
  • Molecular Sequence Data
  • Nucleic Acid Denaturation
  • Phylogeny*
  • Sequence Analysis, DNA
  • Species Specificity
  • Y Chromosome / genetics*

Associated data

  • GENBANK/AC002531
  • GENBANK/AC003031
  • GENBANK/AC003094
  • GENBANK/AC003095
  • GENBANK/AC003097
  • GENBANK/AC004474
  • GENBANK/AC006376
  • RefSeq/NM_003140