X inactivation and reactivation in X-linked diseases

Marcella Vacca; Floriana Della Ragione; Francesco Scalabrì; Maurizio D'Esposito

doi:10.1016/j.semcdb.2016.03.009

X inactivation and reactivation in X-linked diseases

Marcella Vacca, Floriana Della Ragione, Francesco Scalabrì, Maurizio D'Esposito

www.neuromed.it

Research output: Contribution to journal › Article › peer-review

Abstract

X chromosome inactivation (XCI) is the phenomenon by which mammals compensate for dosage of X-linked genes in females (XX) versus males (XY). XCI patterns can be random or show extreme skewing, and can modify the mode of inheritance of X-driven phenotypes, which contributes to the variability of human pathologies. Recent findings have shown reversibility of the XCI process, which has opened new avenues in the approaches used for the treatment of X-linked diseases.

Original language	English
Journal	Seminars in Cell and Developmental Biology
DOIs	https://doi.org/10.1016/j.semcdb.2016.03.009
Publication status	Accepted/In press - Jan 5 2016

Keywords

MECP2
Neurological diseases
Rett syndrome
X inactivation
X-linked diseases

ASJC Scopus subject areas

Developmental Biology
Cell Biology

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