ABNORMAL GENE-PRODUCT IDENTIFIED IN HEREDITARY DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY (DRPLA) BRAIN

被引：141

作者：

YAZAWA, I

NUKINA, N

HASHIDA, H

GOTO, J

YAMADA, M

KANAZAWA, I

机构：

[1] UNIV TOKYO,FAC MED,INST BRAIN RES,DEPT NEUROL,BUNKYO KU,TOKYO 113,JAPAN

[2] NATL CHILDRENS MED RES CTR,SETAGAYA KU,TOKYO 154,JAPAN

来源：

NATURE GENETICS | 1995年 / 10卷 / 01期

关键词：

D O I：

10.1038/ng0595-99

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Dentatorubral-pallidoluysian atrophy (DRPLA) is associated with the expansion of an unstable CAG repeat. Using antibodies against a synthetic peptide corresponding to the sequence of the DRPLA gene product C terminus, we have identified the DRPLA gene product in normal human brains as a approximate to 190 kD protein. We also find a larger approximate to 205 kD protein specifically in DRPLA brains. Immunohistochemically, the DRPLA gene product is observed mainly in the neuronal cytoplasm. Our results demonstrate the existence of the expanded CAG repeat gene product and support the possibility that the expanded CAG-encoded polyglutamine stretch may participate in the pathological process of the similar trinucleotide repeat diseases.

引用

页码：99 / 103

页数：5

共 33 条

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