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

Research output: Contribution to journalShort surveypeer-review


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.

Original languageEnglish (US)
Pages (from-to)2052-2059
Number of pages8
JournalJournal of the American Society of Nephrology
Issue number11
StatePublished - Nov 2008

ASJC Scopus subject areas

  • Nephrology


Dive into the research topics of 'X inactivation, female mosaicism, and sex differences in renal diseases'. Together they form a unique fingerprint.

Cite this