X inactivation, female mosaicism, and sex differences in renal diseases

J Am Soc Nephrol. 2008 Nov;19(11):2052-9. doi: 10.1681/ASN.2008020198. Epub 2008 Apr 30.

Abstract

A good deal of sex differences in kidney disease is attributable to sex differences in the function of genes on the X chromosome. Males are uniquely vulnerable to mutations in their single copy of X-linked genes, whereas females are often mosaic, having a mixture of cells expressing different sets of X-linked genes. This cellular mosaicism created by X inactivation in females is most often advantageous, protecting carriers of X-linked mutations from the severe clinical manifestations seen in males. Even subtle differences in expression of many of the 1100 X-linked genes may contribute to sex differences in the clinical expression of renal diseases.

Publication types

  • Comparative Study
  • Review

MeSH terms

  • Diabetes Insipidus, Nephrogenic / genetics
  • Epigenesis, Genetic
  • Fabry Disease / genetics
  • Familial Hypophosphatemic Rickets / genetics
  • Female
  • Genes, X-Linked
  • Genetic Diseases, X-Linked / genetics
  • Humans
  • Kidney / cytology
  • Kidney / growth & development
  • Kidney Diseases / genetics*
  • Lesch-Nyhan Syndrome / genetics
  • Male
  • Mosaicism*
  • Mutation
  • Nephritis, Hereditary / genetics
  • Oculocerebrorenal Syndrome / genetics
  • Orofaciodigital Syndromes / genetics
  • Sex Characteristics
  • X Chromosome Inactivation*