1999 Fiscal Year Final Research Report Summary
Study on dystrophin isoform expressed in heart
| Project/Area Number |
09470182
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Single-year Grants |
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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 |
MATSUO Masafumi Kobe University, Scledicine, Professor, 医学部, 教授 (10157266)
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| Co-Investigator(Kenkyū-buntansha) |
TAKESHIMA Yasuhiro Kobe University, Hospital, Assistant, 医学部・附属病院, 助手 (40281141)
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| Project Period (FY) |
1997 – 1999
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| Keywords | dystrophin / isoform / exon intron / dilated cardiomyopathy |
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| Research Abstract |
The dystrophin gene is the largest gene in human and consists of 79 exons. From this gene many isoforms are produced by using the mechanism of alternative promoters and alternative splicing. In this study new isoform of dystrophin was tried to be identified by reverse-transcription PCR technique. And we succeeded to clone new exon sequence that is located within intron 2. Currently the physiological role of new exon is under the investigation.
We also tried to identify mutation in the promoter/first exon region of the dystrophin gene in dilated cardiomyopathy patients. However, no one had mutation in this region. This showed that mutation in the promoter/first exon region is not responsible for Japanese dilated cardiomyophaty.
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[Publications] Shiga, N., Takeshima, Y., Sakamoto, H., Inoue, K., Yokota, Y., Yokoyama, M., and Matsuo, M.: "Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy"J. Clin. Invest.. 100. 2204-2210 (1997)
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[Publications] Shiga,N, Takeshima,Y, Sakamoto,H, Inoue,K, Yokota,Y, Yokoyama,M and Matsuo,M.: "Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy"J Clin Invest. 100. 2204-2210 (1997)
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[Publications] Inoue,M, Honda,S, Nishio,H, Matsuo,M, Nakamura,H and Yamamoto,M.: "Genotype and electroretinal heterogeneity in Duchenne muscular dystrophy"Exp Eye Res. 65. 861-864 (1997)
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[Publications] Tachi,N, Ohya,K, Chiba,S, Matsuo,M Patria,SY and Matsumura,K.: "Deficiency of syntrophin, dystroglycan, and merosin in a female infant with a congenital muscular dystrophy phenotype lacking cysteine-rich and C-terminal domains of dystrophin"Neurology. 49. 579-583 (1997)
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[Publications] Surono,A, Takeshima,Y, Wibawa,T, Ikezawa,M, Nonaka,I and Matsuo,M.: "Circular dystrophin RNAs consisting of exons that were skipped by alternative splicing"Hum Mol Genet. 8. 493-500 (1999)
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[Publications] Patria,SY, Takeshima,Y, Suminaga,R, Nakamura,H, Iwasaki,R, Minagawa,T and Matsuo,M.: "A simple explanation for a case of incompatibility with the reading frame theory in Duchenne muscular dystrophy : failure to detect an aberrant restriction fragment in Southern blot analysis"Brain Dev. 21. 386-389 (1999)
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[Publications] Wibawa,T, Takeshima,Y, Mitsuyoshi,IW,H., Surono,A, Nakamura,H and Matsuo,M.: "Complete skipping of exon 66 due to novel mutations of the dystrophin gene was identified in two Japanese families of DMD with severe mental retardation"Brain Dev. (in press). (2000)
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