Journal
FEBS LETTERS
Volume 589, Issue 21, Pages 3313-3320Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.febslet.2015.05.046
Keywords
BCL-6 corepressor; Oculofaciocardiodental syndrome; X-linked dominant hereditary; Nuclear localization; Mutagenesis
Funding
- Japan Society for the Promotion of Science Scientific Research [25463167]
- Grants-in-Aid for Scientific Research [25463167] Funding Source: KAKEN
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Mutations 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. (C) 2015 Federation of European Biochemical Societies. Published by Elsevier B.V. All rights reserved.
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