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X inactivation, female mosaicism, and sex differences in renal diseases Migeon BRJ Am Soc Nephrol 2008[Nov]; 19 (11): 2052-9A 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.|*Mosaicism[MESH]|*X Chromosome Inactivation[MESH]|Diabetes Insipidus, Nephrogenic/genetics[MESH]|Epigenesis, Genetic[MESH]|Fabry Disease/genetics[MESH]|Familial Hypophosphatemic Rickets/genetics[MESH]|Female[MESH]|Genes, X-Linked[MESH]|Genetic Diseases, X-Linked/genetics[MESH]|Humans[MESH]|Kidney Diseases/*genetics[MESH]|Kidney/cytology/growth & development[MESH]|Lesch-Nyhan Syndrome/genetics[MESH]|Male[MESH]|Mutation[MESH]|Nephritis, Hereditary/genetics[MESH]|Oculocerebrorenal Syndrome/genetics[MESH]|Orofaciodigital Syndromes/genetics[MESH]|Sex Characteristics[MESH] |
