Study on dystrophin isoform expressed in heart

抗肌营养不良蛋白亚型在心脏中表达的研究

• 批准号: 09470182
• 负责人: MATSUO Masafumi
• 金额: $ 5.76万
• 依托单位: Kobe University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (B)
• 财政年份: 1997
• 资助国家: 日本
• 起止时间: 1997 至 1999
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-09470182/
• 关键词: dystrophin; isoform; exon intron; dilated cardiomyopathy; 分子種; クローニング; 心筋; アイソフォーム

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.

抗肌萎缩蛋白基因是人类最大的基因，由79个外显子组成。从该基因通过使用选择性启动子和选择性剪接的机制产生许多同种型。本研究尝试用反转录PCR技术鉴定抗肌萎缩蛋白的新亚型。我们成功克隆了位于内含子2内的新的外显子序列。目前，新外显子的生理作用正在研究中，我们也试图确定扩张型心肌病患者dystrophin基因启动子/第一外显子区域的突变。但是，没有人在这个区域发生突变。这表明启动子/第一外显子区域的突变与日本扩张型心肌病无关。

项目成果

Dwi Pramono,ZA, Takeshima,Y, Surono,A, Ishida,T and Matsuo,M.: "A novel cryptic exon in intron 2 of the human dystrophin gene evolved from an intron by acquiring consensus sequences for splicing at different stages of anthropoid evolution"Biochem Biophys

Dwi Pramono,ZA、Takeshima,Y、Surono,A、Ishida,T 和 Matsuo,M.：“人类肌营养不良蛋白基因内含子 2 中的一个新的神秘外显子是通过获取在类人猿不同阶段进行剪接的共有序列从内含子进化而来的。

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.

Tachi,N、Ohya,K、Chiba,S、Matsuo,M Patria,SY 和 Matsumura,K.：“患有先天性肌营养不良症表型缺乏富含半胱氨酸和 C-的女婴缺乏肌营养蛋白、肌营养不良聚糖和 merosin

Shiga,N, Matsuo,M, Yokoyama,M and Yokota,Y.: "Study on mutations affecting the muscle promoter/first exon of the dystrophin gene in 92 Japanese dilated cardiomyopathy patients"Am J Med Genet. 79. 226-227 (1998)

Shiga,N、Matsuo,M、Yokoyama,M 和 Yokota,Y.：“影响 92 名日本扩张型心肌病患者肌营养不良蛋白基因肌肉启动子/第一外显子的突变研究”Am J Med Genet。

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)

Surono，A，Takeshima，Y，Wibawa，T，Ikezawa，M，Nonaka，I 和 Matsuo，M.：“由通过选择性剪接跳过的外显子组成的环状肌营养不良蛋白 RNA”Hum Mol Genet。

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 Souther

Patria,SY,Takeshima,Y,Suminaga,R,Nakamura,H,Iwasaki,R,Minakawa,T 和 Matsuo,M.：“对杜氏肌营养不良症阅读框架理论不相容的一个简单解释：未能