title: X chromosome regulation: diverse patterns in development, tissues and disease.
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.
authors.affiliation: Department of Pathology, School of Medicine, University of Washington, 1959 NE Pacific Street, Seattle, Washington 98115, USA.
authors.forename: Xinxian
authors.initials: X
authors.lastname: Deng
authors.affiliation: Department of Pathology, School of Medicine, University of Washington, 1959 NE Pacific Street, Seattle, Washington 98115, USA.
authors.forename: Joel B
authors.initials: JB
authors.lastname: Berletch
authors.affiliation: Department of Pathology, School of Medicine, University of Washington, 1959 NE Pacific Street, Seattle, Washington 98115, USA.
authors.forename: Di K
authors.initials: DK
authors.lastname: Nguyen
authors.affiliation: 1] Department of Pathology, School of Medicine, University of Washington, 1959 NE Pacific Street, Seattle, Washington 98115, USA. [2] Department of Medicine, School of Medicine, University of Washington, 1959 NE Pacific Street, Seattle, Washington 98115, USA.
authors.forename: Christine M
authors.initials: CM
authors.lastname: Disteche
mesh_terms: D000818:Animals; D025063:Chromosome Disorders / Q000235:genetics / Q000378:metabolism; D041321:Chromosomes, Human, X / Q000235:genetics / Q000378:metabolism; D005260:Female; D005786:Gene Expression Regulation; D040181:Genetic Diseases, X-Linked / Q000235:genetics / Q000378:metabolism; D006801:Humans; D008297:Male; D009030:Mosaicism; D012727:Sex Characteristics; D049951:X Chromosome Inactivation
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