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X Inactivation, Female Mosaicism, and Sex Differences in Renal Diseases

2008; American Society of Nephrology; Volume: 19; Issue: 11 Linguagem: Inglês

10.1681/asn.2008020198

1533-3450

Barbara R. Migeon,

Renal Diseases and Glomerulopathies

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.