Federation of European Biochemical Societies. Published by Elsevier B.V.
Doi
Abstract
AbstractMutations in the BCL-6 corepressor (BCOR) gene, which encodes a transcriptional corepressor, were described to cause oculofaciocardiodental syndrome (MIM 300166). The purpose of this study was to localize the classical nuclear localization signals (NLSs) of the BCOR using reported human BCOR mutations with comparable phenotypes. The genotype–phenotype correlation among the mutations could not be clearly explained; however, the classical NLSs were identified at two possible sites; RVDRKRKVSGD at aa1131–1141 (NLS1) and LKAKRRRVSK at aa1158–1167 (NLS2). In addition, according to our results, NLS2 displayed a more efficient nuclear import function than NLS1
Is data on this page outdated, violates copyrights or anything else? Report the problem now and we will take corresponding actions after reviewing your request.