Reactome | Loss of MECP2 binding ability to 5mC-DNA

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Loss of MECP2 binding ability to 5mC-DNA Show undefined attributes

authored	[InstanceEdit:9024208] Orlic-Milacic, Marija, 2017-10-02
compartment	[Compartment:7660] nucleoplasm
created	[InstanceEdit:9022536] Orlic-Milacic, Marija, 2017-09-25
crossReference	[DatabaseIdentifier:12020964] Mondo:0010726
dbId	9022538
disease	[Disease:9005548] Rett syndrome
displayName	Loss of MECP2 binding ability to 5mC-DNA
edited	[InstanceEdit:9615799] Orlic-Milacic, Marija, 2018-08-08
eventOf	[Pathway:R-HSA-9005891] Loss of function of MECP2 in Rett syndrome - Homo sapiens
hasDiagram	true
hasEHLD	false
hasEvent	[FailedReaction:R-HSA-9022465] MECP2 mutants R106W, D121G, R133H, S134F, T158M and T158A do not bind to 5mC-DNA - Homo sapiens [FailedReaction:R-HSA-9023461] MECP2 T158A:SIN3A complex does not bind BDNF gene promoter - Homo sapiens
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:9023446] MeCP2 binding to DNA depends upon hydration at methyl-CpG [LiteratureReference:9023429] Rett syndrome mutation MeCP2 T158A disrupts DNA binding, protein stability and ERP responses [LiteratureReference:9022452] MeCP2 binds to 5hmC enriched within active genes and accessible chromatin in the nervous system [LiteratureReference:9024243] Rett syndrome-causing mutations in human MeCP2 result in diverse structural changes that impact folding and DNA interactions
maxDepth	2
modified	[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Loss of MECP2 binding ability to 5mC-DNA
normalPathway	[Pathway:R-HSA-8986944] Transcriptional Regulation by MECP2
releaseDate	2018-09-12
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:9608119] Krishnaraj, Rahul, 2018-08-07 [InstanceEdit:9608114] Christodoulou, John, 2018-08-07
schemaClass	Pathway
species	[Species:48887] Homo sapiens
stId	R-HSA-9022538
summation	[Summation:9024250] Missense mutations in the methyl-CpG binding domain (MBD) of...

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(hasEvent)

[Pathway:R-HSA-9005891] Loss of function of MECP2 in Rett syndrome

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