Loss of MECP2 binding ability to 5mC-DNA

Stable Identifier
R-HSA-9022538
Type
Pathway
Species
Homo sapiens
Compartment
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Missense mutations in the methyl-CpG binding domain (MBD) of methyl-CpG-binding protein 2 (MECP2), spanning amino acids 90 to 162, negatively affect the binding ability of MECP2 to methylated DNA (Ghosh et al. 2008, Ho et al. 2008, Goffin et al. 2012, 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
18313390 MeCP2 binding to DNA depends upon hydration at methyl-CpG

Ho, KL, McNae, IW, Schmiedeberg, L, Klose, RJ, Bird, AP, Walkinshaw, MD

Mol. Cell 2008
22119903 Rett syndrome mutation MeCP2 T158A disrupts DNA binding, protein stability and ERP responses

Goffin, D, Allen, M, Zhang, L, Amorim, M, Wang, IT, Reyes, AR, Mercado-Berton, A, Ong, C, Cohen, S, Hu, L, Blendy, JA, Carlson, GC, Siegel, SJ, Greenberg, ME, Zhou, Z

Nat. Neurosci. 2011
18499664 Rett syndrome-causing mutations in human MeCP2 result in diverse structural changes that impact folding and DNA interactions

Ghosh, RP, Horowitz-Scherer, RA, Nikitina, T, Gierasch, LM, Woodcock, CL

J. Biol. Chem. 2008
Participants
Participant Of
Disease
Name Identifier Synonyms
Rett syndrome 1206 Rett's disorder, cerebroatrophic hyperammonemia
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