2017 Fiscal Year Final Research Report
Functional analysis of DUX4 and its effect on development.
| Project/Area Number |
15K19477
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Neurology
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| Research Institution | Tokai University |
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Principal Investigator |
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| Project Period (FY) |
2015-04-01 – 2018-03-31
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| Keywords | 筋ジストロフィー / FSHD / DUX4 |
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| Outline of Final Research Achievements |
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common muscular dystrophies. However, its molecular pathology is not well understood. In recent years, it has been revealed that DUX4 is a causative gene of FSHD. In this study, we generated a series of DUX4 mutant cDNAs to reveal the functional domain necessary for the cytotoxicity of DUX4. We also revealed that the cytotoxicity of DUX4 depends on its transcriptional activity and showed that competitive inhibition is effective to alleviate the cytotoxicity. Furthermore, we also showed the possibility of a new sequencing technology to analyze DNA sequence of DUX4 gene within D4Z4 repeats.
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| Free Research Field |
神経内科学
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