Loss of MECP2 binding ability to 5hmC-DNA

Stable Identifier
R-HSA-9022534
Type
Pathway
Species
Homo sapiens
Compartment
Locations in the PathwayBrowser
General
SVG |   | PPTX  | SBGN
Click the image above or here to open this pathway in the Pathway Browser

Missense mutations in the methyl-CpG binding domain (MBD) of MECP2, spanning amino acids 90 to 162, negatively affect the binding ability of MECP2 to hydroxymethylated DNA (Mellen et al. 2012).

Literature References
PubMed ID Title Journal Year
23260135 MeCP2 binds to 5hmC enriched within active genes and accessible chromatin in the nervous system

Mellén, M, Ayata, P, Dewell, S, Kriaucionis, S, Heintz, N

Cell 2012
Participants
Participant Of
Disease
Name Identifier Synonyms
Rett syndrome 1206 Rett's disorder, cerebroatrophic hyperammonemia
Authored
Reviewed
Created