MECP2 T158A:SIN3A complex does not bind BDNF gene promoter

Stable Identifier
R-HSA-9023461
Type
Reaction [transition]
Species
Homo sapiens
Compartment
nucleoplasm
ReviewStatus
5/5
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MECP2 T158A:SIN3A complex does not bind BDNF gene promoter
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The Rett syndrome-causing MECP2 T158A mutant is unable to bind to 5mC-DNA (DNA containing 5-methylcytosine) and has reduced protein stability. While MECP2 T158A can bind to the SIN3A complex, it is unable to bind to the promoter of the brain-derived neurotrophic factor (BDNF) gene (Goffin et al. 2012).
Literature References
PubMed ID Title Journal Year
22119903 Rett syndrome mutation MeCP2 T158A disrupts DNA binding, protein stability and ERP responses

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

Nat. Neurosci. 2011
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Normal reaction
MECP2:SIN3A complex binds the promoter of the BDNF gene (Homo sapiens)
Functional status

Loss of function of MECP2 T158A:SIN3A:HDAC1 [nucleoplasm]

Normal Entity
Disease Entity
Status
Disease
Name Identifier Synonyms
Rett syndrome DOID:1206 Rett's disorder, cerebroatrophic hyperammonemia
Authored
Orlic-Milacic, M  (2017-10-02)
Reviewed
Krishnaraj, R  (2018-08-07)
Christodoulou, J  (2018-08-07)
Created
Orlic-Milacic, M  (2017-09-27)
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