The human Y chromosome: an evolutionary marker comes of age

Nat Rev Genet. 2003 Aug;4(8):598-612. doi: 10.1038/nrg1124.


Until recently, the Y chromosome seemed to fulfil the role of juvenile delinquent among human chromosomes--rich in junk, poor in useful attributes, reluctant to socialize with its neighbours and with an inescapable tendency to degenerate. The availability of the near-complete chromosome sequence, plus many new polymorphisms, a highly resolved phylogeny and insights into its mutation processes, now provide new avenues for investigating human evolution. Y-chromosome research is growing up.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Chromosomes, Human, Y*
  • Evolution, Molecular
  • Genetic Markers*
  • Genetic Variation
  • Humans
  • Male
  • Microsatellite Repeats
  • Models, Genetic
  • Mutation
  • Phylogeny
  • Polymorphism, Single Nucleotide
  • Recombination, Genetic


  • Genetic Markers