[HTML][HTML] Rett syndrome-causing mutations in human MeCP2 result in diverse structural changes that impact folding and DNA interactions
RP Ghosh, RA Horowitz-Scherer, T Nikitina… - Journal of Biological …, 2008 - ASBMB
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 in the MBD,
indicated that this residue is strongly protected from the aqueous environment in the wild …
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 in the MBD,
indicated that this residue is strongly protected from the aqueous environment in the wild …