Identification of nuclear localization signals within the human BCOR protein

Thunyaporn Surapornsawasd; Takuya Ogawa; Keiji Moriyama

doi:10.1016/j.febslet.2015.05.046

Identification of nuclear localization signals within the human BCOR protein

FEBS Lett. 2015 Oct 24;589(21):3313-20. doi: 10.1016/j.febslet.2015.05.046. Epub 2015 Jun 6.

Authors

Thunyaporn Surapornsawasd¹, Takuya Ogawa², Keiji Moriyama³

Affiliations

¹ Maxillofacial Orthognathics, Graduate School, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo 113-8549, Japan. Electronic address: Ice31287@hotmail.com.
² 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.
³ 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.

PMID: 26054978
DOI: 10.1016/j.febslet.2015.05.046

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.

Keywords: BCL-6 corepressor; Mutagenesis; Nuclear localization; Oculofaciocardiodental syndrome; X-linked dominant hereditary.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Amino Acid Sequence
Animals
COS Cells
Cataract / congenital
Cataract / genetics
Cataract / pathology
Heart Septal Defects / genetics
Heart Septal Defects / pathology
Humans
Microphthalmos / genetics
Microphthalmos / pathology
Mutation
Nuclear Localization Signals / genetics*
Proto-Oncogene Proteins / genetics*
Proto-Oncogene Proteins / metabolism*
Repressor Proteins / genetics*
Repressor Proteins / metabolism*

Substances

BCOR protein, human
Nuclear Localization Signals
Proto-Oncogene Proteins
Repressor Proteins

Supplementary concepts

Microphthalmia, syndromic 2