[HTML][HTML] Detection of protein folding defects caused by BRCA1-BRCT truncation and missense mutations
RS Williams, DI Chasman, DD Hau, B Hui… - Journal of Biological …, 2003 - ASBMB
Most cancer-associated BRCA1 mutations identified to date result in the premature
translational termination of the protein, highlighting a crucial role for the C-terminal, BRCT
repeat region in mediating BRCA1 tumor suppressor function. However, the molecular and
genetic effects of missense mutations that map to the BRCT region remain largely unknown.
Using a protease-based assay, we directly assessed the sensitivity of the folding of the
BRCT domain to an extensive set of truncation and single amino acid substitutions derived …
translational termination of the protein, highlighting a crucial role for the C-terminal, BRCT
repeat region in mediating BRCA1 tumor suppressor function. However, the molecular and
genetic effects of missense mutations that map to the BRCT region remain largely unknown.
Using a protease-based assay, we directly assessed the sensitivity of the folding of the
BRCT domain to an extensive set of truncation and single amino acid substitutions derived …