2017 Fiscal Year Final Research Report
Functional analysis of a gene possibly responsible for cases with schizophrenia exhibiting unique intermediate phenotypes in a Japanese family
| Project/Area Number |
15K09811
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Psychiatric science
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| Research Institution | Kagoshima University |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
佐野 輝 鹿児島大学, 医歯学域医学系, 教授 (30178800)
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| Project Period (FY) |
2015-04-01 – 2018-03-31
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| Keywords | 統合失調症 / 中間表現型 |
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| Outline of Final Research Achievements |
We performed genetic analysis for a family with both schizophrenic symptoms and unique dysmorphic features. We identified a c.2173C> T (p.Arg725Thr) mutation in the gene X that co-segregates only within patients. The gene X product has a histone modification activity. In the proband derived-lymphoblastoid cells, the gene X expression was significantly decreased when compared to healthy control-derived cells although there was no significant difference in the histone modification activity. These results suggests that histone modification abnormality caused by reduced expression of gene X at a certain stage of development may affect other gene expressions.
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| Free Research Field |
分子精神医学
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