MECP2 mutants R133C ,D121G, R133H and S134F do not bind 5hmC-DNA

Stable Identifier
R-HSA-9022462
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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MECP2 R133C mutant protein loses the ability to bind to 5hmC-DNA (DNA containing 5-hydroxymethylcytosine mark, associated with active transcription), while retaining the ability to bind to 5mC-DNA (DNA containing 5-methylcytosine mark, associated with repressed transcription). MECP2 mutants D121G, R133H and S134F cannot bind to either 5hmc-DNA or 5mc-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

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

Cell 2012
Participants
Participates
Normal reaction
Functional status

Loss of function of MECP2 R133C,MECP2 D121G,MECP2 R133H,MECP2 S134F [nucleoplasm]

Status
Disease
Name Identifier Synonyms
Rett syndrome DOID:1206 Rett's disorder, cerebroatrophic hyperammonemia
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Reviewed
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