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Details on Person MECP2 T158M mutation is the most frequent missense mutation ...
| Class:Id | Summation:9022530 |
|---|---|
| _displayName | MECP2 T158M mutation is the most frequent missense mutation ... |
| _timestamp | 2018-04-06 13:43:12 |
| created | [InstanceEdit:9022531] Orlic-Milacic, Marija, 2017-09-25 |
| modified | [InstanceEdit:9023448] Orlic-Milacic, Marija, 2017-09-27 [InstanceEdit:9023458] Orlic-Milacic, Marija, 2017-09-27 [InstanceEdit:9604999] Orlic-Milacic, Marija, 2018-04-06 |
| text | MECP2 T158M mutation is the most frequent missense mutation in Rett syndrome. MECP2 T158A mutation also causes Rett syndrome but is rarely reported. Threonine 158 (T158) of MECP2 plays a structurally important role in forming the tandem Asx-ST motif in the methyl-CpG-binding domain (MBD) of MECP2, which is critical for DNA binding. MECP2 T158M and other MECP2 T158 mutants are unable to efficiently bind 5mC-DNA (DNA containing 5-methylcytosine mark, associated with repressed transcription) (Ho et al. 2008, Goffin et al. 2012). In addition, MECP2 T158M and MECP2 T158A mutants show decreased protein stability, which further contributes to their loss of function (Goffin et al. 2012). MECP2 R106W is the second most frequently reported Rett syndrome mutation. Arginine 106 (R106) of MECP2 is part of the DNA-binding Asx-ST motif in the MBD of MECP2 (Ho et al. 2008) and MECP2 R106W mutant is unable to interact with the 5mC-DNA (Ghosh et al. 2008). MECP2 mutant proteins D121G, R133H and S134F lose the ability to bind to 5mC-DNA. These mutants also lose the ability to bind to 5hmC-DNA (DNA containing 5-hydroxymethylcytosine mark, associated with active transcription) (Mellen et al. 2012). |
| (summation) | [FailedReaction:9022465] MECP2 mutants R106W, D121G, R133H, S134F, T158M and T158A do not bind to 5mC-DNA [Homo sapiens] |
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