Strong purifying selection at genes escaping X chromosome inactivation

Mol Biol Evol. 2010 Nov;27(11):2446-50. doi: 10.1093/molbev/msq143. Epub 2010 Jun 9.

Abstract

To achieve dosage balance of X-linked genes between mammalian males and females, one female X chromosome becomes inactivated. However, approximately 15% of genes on this inactivated chromosome escape X chromosome inactivation (XCI). Here, using a chromosome-wide analysis of primate X-linked orthologs, we test a hypothesis that such genes evolve under a unique selective pressure. We find that escape genes are subject to stronger purifying selection than inactivated genes and that positive selection does not significantly affect the evolution of these genes. The strength of selection does not differ between escape genes with similar versus different expression levels in males versus females. Intriguingly, escape genes possessing Y homologs evolve under the strongest purifying selection. We also found evidence of stronger conservation in gene expression levels in escape than inactivated genes. We hypothesize that divergence in function and expression between X and Y gametologs is driving such strong purifying selection for escape genes.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Animals
  • Cell Line
  • Chromosomes, Human, X / genetics*
  • Genes, X-Linked
  • Humans
  • Macaca / genetics
  • Pan troglodytes / genetics
  • Regression Analysis
  • Selection, Genetic*
  • Sequence Homology, Nucleic Acid
  • X Chromosome Inactivation / genetics*