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).
Dewell, S, Heintz, N, Mellén, M, Kriaucionis, S, Ayata, P
Loss of function of MECP2 R133C,MECP2 D121G,MECP2 R133H,MECP2 S134F [nucleoplasm]
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