Journal
NATURE REVIEWS GENETICS
Volume 15, Issue 6, Pages 367-378Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/nrg3687
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Funding
- US National Institutes of Health [GM046883, GM098039, MH083949, MH099628]
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Genes on the mammalian X chromosome are present in one copy in mates 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.
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