The different levels of genetic diversity in sex chromosomes and autosomes

Trends Genet. 2009 Jun;25(6):278-84. doi: 10.1016/j.tig.2009.04.005. Epub 2009 May 27.


Sex chromosomes and autosomes differ in their effective population size, mutation and demography, all of which affect the relative level of genetic diversity within the genome. Moreover, natural selection acts differentially on the two chromosomal categories, for example, because recessive mutations are directly exposed to selection on the single X chromosome of males. Recent genome analyses reveal a heterogeneous picture of the sex-chromosome-to-autosome diversity ratio in different organisms. Reduced X chromosome diversity has been interpreted to reflect demographic features such as bottlenecks and male-biased dispersal, whereas more equal diversity in sex chromosomes and autosomes has been explained by polygynous mating systems.

Publication types

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

MeSH terms

  • Female
  • Genetic Variation*
  • Humans
  • Male
  • Selection, Genetic*
  • Sex Chromosomes / genetics*