2012 Fiscal Year Final Research Report
Role of BCOR in root formation with OFCD syndrome
| Project/Area Number |
22792038
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Single-year Grants |
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| Research Field |
Orthodontic/Pediatric dentistry
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| Research Institution | Tokyo Medical and Dental University |
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Principal Investigator |
OGAWA Takuya 東京医科歯科大学, 大学院・医歯学総合研究科, 講師 (50401360)
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| Project Period (FY) |
2010 – 2012
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| Keywords | OFCD 症候群 / BCOR / 歯髄・歯根膜細胞 |
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| Research Abstract |
Oculofaciocardiodental (OFCD) syndrome is a rare X-linked dominant hereditary trait in heterozygous females. Recently, mutations in BCOR, encoding the BCL6 corepressor, have been described to cause OFCD syndrome. In this study, we identified a novel frameshift mutation in BCOR in an OFDC patient. Analysis of nonsense-mediated mRNA decay (NMD), it was significantly increased in BCOR differential expression in OFCD periodontal (PDL) cells. A novel mutation leading to a premature termination codon may affect mRNA expression of BCOR in PDL cells.
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