The role of X inactivation and cellular mosaicism in women's health and sex-specific diseases
The role of X inactivation and cellular mosaicism in women's health and sex-specific diseases
复制标题
DOI：
10.1001/jama.295.12.1428
复制
发表时间：
2006-03-22
影响因子：
120.7
通讯作者：
Migeon, BR
中科院分区：
文献类型：
--
作者：
Migeon, BR
疾病的性别特异性表现最常归因于生殖器官或生活经历的差异。然而，健康问题中的大量性别差异都源于性染色体本身的基因和X失活——这是一种使男性和女性的基因表达均衡的发育程序。大多数雌性都是马赛克细胞，具有表达其母亲或父亲的 X 连锁基因的细胞混合物。通常，细胞嵌合是有利的，可以减轻 X 连锁突变的有害影响并有助于生理多样性。因此，大多数 X 连锁突变都会产生男性特有的疾病。然而，在某些情况下，嵌合雌性细胞之间的动态相互作用会导致雌性特有的疾病表现。
Sex-specific manifestations of disease are most often attributed to differences in the reproductive apparatus or in life experiences. However, a good deal of sex differences in health issues have their origins in the genes on the sex chromosomes themselves and in X inactivation - the developmental program that equalizes their expression in males and females. Most females are mosaics, having a mixture of cells expressing either their mother's or father's X-linked genes. Often, cell mosaicism is advantageous, ameliorating the deleterious effects of X-linked mutations and contributing to physiological diversity. As a consequence, most X-linked mutations produce male-only diseases. Yet, in some cases the dynamic interactions between cells in mosaic females lead to female-specific disease manifestations.