title: Identification of nuclear localization signals within the human BCOR protein.
abstract: 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.
authors.affiliation: Maxillofacial Orthognathics, Graduate School, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo 113-8549, Japan. Electronic address: Ice31287@hotmail.com.
authors.forename: Thunyaporn
authors.initials: T
authors.lastname: Surapornsawasd
authors.affiliation: Maxillofacial Orthognathics, Graduate School, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo 113-8549, Japan; Hard Tissue Genome Research Center, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo 113-8549, Japan. Electronic address: t-ogawa.mort@tmd.ac.jp.
authors.forename: Takuya
authors.initials: T
authors.lastname: Ogawa
authors.affiliation: Maxillofacial Orthognathics, Graduate School, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo 113-8549, Japan; Hard Tissue Genome Research Center, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo 113-8549, Japan. Electronic address: k-moriyama.mort@tmd.ac.jp.
authors.forename: Keiji
authors.initials: K
authors.lastname: Moriyama
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D019556:COS Cells; D002386:Cataract / Q000151:congenital / Q000235:genetics / Q000473:pathology; D006343:Heart Septal Defects / Q000235:genetics / Q000473:pathology; D006801:Humans; D008850:Microphthalmos / Q000235:genetics / Q000473:pathology; D009154:Mutation; D019913:Nuclear Localization Signals / Q000235:genetics*; D011518:Proto-Oncogene Proteins / Q000235:genetics* / Q000378:metabolism*; D012097:Repressor Proteins / Q000235:genetics* / Q000378:metabolism*
chemical_list: C411984:BCOR protein, human; D019913:Nuclear Localization Signals; D011518:Proto-Oncogene Proteins; D012097:Repressor Proteins
keywords: BCL-6 corepressor; Mutagenesis; Nuclear localization; Oculofaciocardiodental syndrome; X-linked dominant hereditary