articleNatureOct 10, 2017HYBRID OA

Landscape of X chromosome inactivation across human tissues

TTTaru TukiainenAVAlexandra–Chloé VillaniAYAngela YenMAManuel A. RivasJLJamie L. Marshall

Broad Institute · Massachusetts General Hospital · +6 more institutions

PubMed
Indexed incrossrefpubmed

Abstract

X chromosome inactivation (XCI) silences transcription from one of the two X chromosomes in female mammalian cells to balance expression dosage between XX females and XY males. XCI is, however, incomplete in humans: up to one-third of X-chromosomal genes are expressed from both the active and inactive X chromosomes (Xa and Xi, respectively) in female cells, with the degree of 'escape' from inactivation varying between genes and individuals. The extent to which XCI is shared between cells and tissues remains poorly characterized, as does the degree to which incomplete XCI manifests as detectable sex differences in gene expression and phenotypic traits. Here we describe a systematic survey of XCI, integrating…

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Topics & keywords

Topics
Keywords
  • X-inactivation
  • Biology
  • Transcriptome
  • X chromosome
  • Gene
  • Phenotype
  • Genetics
  • Chromosome
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