The distinct methylation landscape of maturing neurons and its role in Rett syndrome pathogenesis.

Abstract:

:Rett syndrome (RTT) is one of the most common causes of intellectual and developmental disabilities in girls, and is caused by mutations in the gene encoding methyl-CpG binding protein 2 (MECP2). Here we will review our current understanding of RTT, the landscape of pathogenic mutations and function of MeCP2, and culminate with recent advances elucidating the distinct DNA methylation landscape in the brain that may explain why disease symptoms are delayed and selective to the nervous system.

journal_name

Curr Opin Neurobiol

authors

Lavery LA,Zoghbi HY

doi

10.1016/j.conb.2019.08.001

subject

Has Abstract

pub_date

2019-12-01 00:00:00

pages

180-188

eissn

0959-4388

issn

1873-6882

pii

S0959-4388(19)30063-7

journal_volume

59

pub_type

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