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- Title
X chromosome regulation: diverse patterns in development, tissues and disease.
- Authors
Deng, Xinxian; Berletch, Joel B; Nguyen, Di K; Disteche, Christine M
- Abstract
Genes on the mammalian X chromosome are present in one copy in males and two copies in females. The complex mechanisms that regulate the X chromosome lead to evolutionary and physiological variability in gene expression between species, the sexes, individuals, developmental stages, tissues and cell types. In early development, delayed and incomplete X chromosome inactivation (XCI) in some species causes variability in gene expression. Additional diversity stems from escape from XCI and from mosaicism or XCI skewing in females. This causes sex-specific differences that manifest as differential gene expression and associated phenotypes. Furthermore, the complexity and diversity of X dosage regulation affect the severity of diseases caused by X-linked mutations.
- Publication
Nature reviews. Genetics, 2014, Vol 15, Issue 6, p367
- ISSN
1471-0064
- Publication type
Journal Article
- DOI
10.1038/nrg3687