Migeon Barbara R
McKusick-Nathans Institute of Genetic Medicine, 459 Broadway Research Building, 733 N. Broadway, Baltimore, MD 21205, USA.
J Am Soc Nephrol. 2008 Nov;19(11):2052-9. doi: 10.1681/ASN.2008020198. Epub 2008 Apr 30.
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.
肾脏疾病中的许多性别差异归因于X染色体上基因功能的性别差异。男性对于其单拷贝X连锁基因的突变特别敏感，而女性通常是嵌合体，具有表达不同X连锁基因组合的细胞混合物。女性因X染色体失活产生的这种细胞嵌合现象通常是有益的，可保护X连锁突变携带者免受男性中所见的严重临床表现。1100个X连锁基因中许多基因表达的细微差异甚至可能导致肾脏疾病临床表型的性别差异。
