IDENTIFICATION AND CHARACTERIZATION OF THE GENE CAUSING TYPE-1 SPINOCEREBELLAR ATAXIA

被引：305

作者：

BANFI, S

SERVADIO, A

CHUNG, MY

KWIATKOWSKI, TJ

MCCALL, AE

DUVICK, LA

SHEN, Y

ROTH, EJ

ORR, HT

ZOGHBI, HY

机构：

[1] BAYLOR COLL MED, DEPT PEDIAT, HOUSTON, TX 77030 USA

[2] BAYLOR COLL MED, DEPT HUMAN GENET, HOUSTON, TX 77030 USA

[3] UNIV MINNESOTA, INST HUMAN GENET, DEPT LAB MED & PATHOL, MINNEAPOLIS, MN 55455 USA

[4] UNIV MINNESOTA, INST HUMAN GENET, DEPT BIOCHEM, MINNEAPOLIS, MN 55455 USA

来源：

NATURE GENETICS | 1994年 / 7卷 / 04期

关键词：

D O I：

10.1038/ng0894-513

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Spinocerebellar ataxia type 1 (SCA1) is a neurodegenerative disorder caused by expansion of a CAG trinucleotide repeat. In this study, we describe the identification and characterization of the gene harbouring this repeat. The SCA1 transcript is 10,660 bases and is transcribed from both the wild type and SCA1 alleles. The CAG repeat, coding for a polyglutamine tract, lies within the coding region. The gene spans 450 kb of genomic DNA and is organized in nine exons. The first seven fall in the 5' untranslated region and the last two contain the coding region, and a 7,277 basepairs 3' untranslated region. The first four non-coding exons undergo alternative splicing in several tissues. These features suggest that the transcriptional and translational regulation of ataxin-1, the SCA1 encoded protein, may be complex.

引用

页码：513 / 520

页数：8

共 43 条

[1] 3,400 NEW EXPRESSED SEQUENCE TAGS IDENTIFY DIVERSITY OF TRANSCRIPTS IN HUMAN BRAIN [J].