Article
Rett syndrome-causing mutations in human MeCP2 result in diverse structural changes that impact folding and DNA interactions.
The Journal of biological chemistry - 18 Jul 2008
Ghosh Rajarshi P, Horowitz-Scherer Rachel A, Nikitina Tatiana, Gierasch Lila M, Woodcock Christopher L
Abstract excerpt
Most cases of Rett syndrome (RTT) are caused by mutations in the methylated DNA-binding protein, MeCP2. Here, we have shown that frequent RTT-causing missense mutations (R106W, R133C, F155S, T158M) located in the methylated DNA-binding domain (MBD) of MeCP2 have profound and diverse effects on its structure, stability, and DNA-binding properties. Fluorescence spectroscopy, which reports on the single tryptophan...
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