| Budget Amount *help |
¥3,640,000 (Direct Cost: ¥2,800,000、Indirect Cost: ¥840,000)
Fiscal Year 2017: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000)
Fiscal Year 2016: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000)
Fiscal Year 2015: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
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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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