2013 Fiscal Year Final Research Report
Correlation between cis-acing elements and effects on inducing exon skipping
| Project/Area Number |
23591496
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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 |
Pediatrics
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| Research Institution | Kobe University |
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Principal Investigator |
YAGI Mariko 神戸大学, 医学(系)研究科(研究院), 研究員 (60362787)
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| Co-Investigator(Kenkyū-buntansha) |
TAKESHIMA Yasuhiro 神戸大学, 大学院医学研究科, 教授 (40281141)
AWANO Hiroyuki 神戸大学, 大学院医学研究科, 特命助教 (30437470)
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| Project Period (FY) |
2011 – 2013
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| Keywords | スプライシング |
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| Research Abstract |
Antisense oligonucleotides that induce exon skipping is now attracting much attention to express internally deleted-dystrophin in Duchenne muscular dystrophy(DMD). Previously, we identified antisense oligonucleotides(AO85) that could induce exon 45 skipping efficiently. We examined the ability of AO85 to induce exon 45 skipping and dystrophin expression in DMD patient-derived myocytes carrying different types of deletion mutations, as follows:exon 46-47, 46-48, 46-49, 46-51 or 46-53. The skipping efficiency was different from patients to patients. We identified the junction site of each patient with deletion mutation and examined the intronic splicing enhancers/silencers (ISEs/ISSs) in the junction site. In this study, we could not clarify the correlation between ISEs/ISSs in the junction site and exon 45 skipping efficiency.
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[Presentation] A small chemical, TG003, enhances skipping of mutated dystrophin exons : the third example revealing a decrease of exonic splicing enhancer density in common2012
Author(s)
Nishida A, Takeshima Y, Kataoka N, Yagi M, Awano H, Lee T, Iijima K, Hagiwara M, Matsuo M
Organizer
The American Society of Human Genetics, the 62th Annual Meeting
Place of Presentation
San Francisco
Year and Date
20121106-10
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