A whole organism map of X-inactivation reveals tissue-specific escape as an exceptionally rare event in humans

Author:

Gylemo BjörnORCID,Nestor Colm E.ORCID

Abstract

AbstractAs females are mosaic for X-inactivation, direct determination of X-linked allelic expression in bulk tissues is typically unfeasible. Using females that are non-mosaic for X-inactivation (nmXCI) as a powerful and natural genetic system we directly determined X-inactivation status of 401 X-linked genes across 32 normal tissues. We reveal that nmXCI is common in the female population and that contrary to previous reports, variable escape is an exceedingly rare event in humans. As the most complete atlas of XCI in humans to date, our findings represent a major advance in our understanding of human X-inactivation and will serve as a reference for dissecting the genetic origin of sex-bias in human traits.

Publisher

Cold Spring Harbor Laboratory

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