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• W3191465505 endingPage "R295" @default.
• W3191465505 startingPage "R285" @default.
• W3191465505 abstract "The gene content of the X and Y chromosomes has dramatically diverged during evolution. The ensuing dosage imbalance within the genome of males and females has led to unique chromosome-wide regulatory mechanisms with significant and sex-specific impacts on X-linked gene expression. X inactivation or silencing of most genes on one X chromosome chosen at random in females profoundly affects the manifestation of X-linked diseases, as males inherit a single maternal allele, while females express maternal and paternal alleles in a mosaic manner. An additional complication is the existence of genes that escape X inactivation and thus are ubiquitously expressed from both alleles in females. The mosaic nature of X-linked gene expression and the potential for escape can vary between individuals, tissues, cell types and stages of life. Our understanding of the specialized nature of X-linked genes and of the multilayer epigenetic regulation that influence their expression throughout the organism has been helped by molecular studies conducted by tissue-specific and single-cell-specific approaches. In turn, the definition of molecular events that control X silencing has helped develop new approaches for the treatment of some X-linked disorders. This review focuses on the peculiarities of the X chromosome genetic content and epigenetic regulation in shaping the manifestation of congenital and acquired X-linked disorders in a sex-specific manner." @default.
• W3191465505 created "2021-08-16" @default.
• W3191465505 creator A5011158717 @default.
• W3191465505 creator A5023968235 @default.
• W3191465505 creator A5067240879 @default.
• W3191465505 date "2021-08-13" @default.
• W3191465505 modified "2023-10-18" @default.
• W3191465505 title "X-factors in human disease: impact of gene content and dosage regulation" @default.
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