title: X inactivation, female mosaicism, and sex differences in renal diseases.
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.
authors.affiliation: McKusick-Nathans Institute of Genetic Medicine, 459 Broadway Research Building, 733 N. Broadway, Baltimore, MD 21205, USA. bmigeon@jhmi.edu
authors.forename: Barbara R
authors.initials: BR
authors.lastname: Migeon
mesh_terms: D018500:Diabetes Insipidus, Nephrogenic / Q000235:genetics; D044127:Epigenesis, Genetic; D000795:Fabry Disease / Q000235:genetics; D053098:Familial Hypophosphatemic Rickets / Q000235:genetics; D005260:Female; D050172:Genes, X-Linked; D040181:Genetic Diseases, X-Linked / Q000235:genetics; D006801:Humans; D007668:Kidney / Q000166:cytology / Q000254:growth & development; D007674:Kidney Diseases / Q000235:genetics*; D007926:Lesch-Nyhan Syndrome / Q000235:genetics; D008297:Male; D009030:Mosaicism; D009154:Mutation; D009394:Nephritis, Hereditary / Q000235:genetics; D009800:Oculocerebrorenal Syndrome / Q000235:genetics; D009958:Orofaciodigital Syndromes / Q000235:genetics; D012727:Sex Characteristics; D049951:X Chromosome Inactivation