STRUCTURE AND EXPRESSION OF THE GENE RESPONSIBLE FOR THE TRIPLET REPEAT DISORDER, DENTATORUBRAL AND PALLIDOLUYSIAN ATROPHY (DRPLA)

被引:182
作者
NAGAFUCHI, S
YANAGISAWA, H
OHSAKI, E
SHIRAYAMA, T
TADOKORO, K
INOUE, T
YAMADA, M
机构
[1] NATL CHILDRENS MED RES CTR,TOKYO 154,JAPAN
[2] NIHON UNIV,NUCLEIC ACID SCI LAB,FUJISAWA,KANAGAWA 252,JAPAN
关键词
D O I
10.1038/ng1094-177
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Dentatorubral and pallidoluysian atrophy is associated with expansion of an unstable CAG repeat on chromosome 12p. We have determined the nucleotide sequences of overlapping cDNA clones and deduced the gene structure. The gene is ubiquitously expressed to form a single 4.5 kb transcript and encoded by an open reading frame of 1184 amino acids (aa), in which a polyglutamine track with variable length starts at aa 484. Although the predicted amino acid sequence does not reveal any function, it does contain several interesting motifs consisting of a simple repeated amino acid sequence, a homo-proline track, two stretches of arginine-glutamic acid dipeptides and a stretch of alternative histidine residues. These results provide clues toward understanding neurodegenerative diseases associated with triplet repeat expansion.
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页码:177 / 182
页数:6
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