Effect of artificial (CTG) repeat expansion on the expression of myotonin protein kinase (MtPK) in COS-1 cells

被引：14

作者：

Sasagawa, N

Saitoh, N

Shimokawa, M

Sorimachi, H

Maruyama, K

Arahata, K

Ishiura, S

Suzuki, K

机构：

[1] UNIV TOKYO,INST MOLEC & CELLULAR BIOSCI,TOKYO 113,JAPAN

[2] NATL INST PHYSIOL SCI,OKAZAKI,AICHI 444,JAPAN

[3] NATL INST NEUROSCI,KODAIRA,TOKYO 187,JAPAN

来源：

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE | 1996年 / 1315卷 / 02期

关键词：

myotonic dystrophy; triplet-repeat; protein kinase; (human);

D O I：

10.1016/0925-4439(95)00101-8

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

A major challenge in the study of a new genetic entity called triplet-repeat disease is to identify the role of triplet repeats in the pathogenesis of the disease. We have developed a strategy to demonstrate the effect in the 3'-untranslated end of the (CTG) repeats in myotonic dystrophy gene (MtPK) and found that repeat expansion (CTG(46)) causes a slight decrease in the translation rate of MtPK cDNA, which correlates with the finding in patients with myotonic dystrophy of a low amount of MtPK protein in muscle. These results provide an important clue for characterizing the genetic abnormality in other triplet-repeat diseases.

引用

页码：112 / 116

页数：5

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