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

Semin Cell Dev Biol. 2016 Aug:56:78-87. doi: 10.1016/j.semcdb.2016.03.009. Epub 2016 Mar 17.

Authors

Marcella Vacca¹, Floriana Della Ragione², Francesco Scalabrì³, Maurizio D'Esposito²

Affiliations

¹ Institute of Genetics and Biophysics "A. Buzzati Traverso", CNR, via Pietro Castellino, 111, 80131, Naples, Italy. Electronic address: marcella.vacca@igb.cnr.it.
² Institute of Genetics and Biophysics "A. Buzzati Traverso", CNR, via Pietro Castellino, 111, 80131, Naples, Italy; IRCCS Neuromed, Pozzilli, Isernia, Italy.
³ IRCCS Neuromed, Pozzilli, Isernia, Italy.

PMID: 26994527
DOI: 10.1016/j.semcdb.2016.03.009

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.

Keywords: MECP2; Neurological diseases; Rett syndrome; X inactivation; X-linked diseases.

Publication types

Review
Research Support, Non-U.S. Gov't

MeSH terms

Animals
Genetic Diseases, X-Linked / genetics*
Humans
Rett Syndrome / genetics
X Chromosome Inactivation / genetics*