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| EXPANSION OF AN UNSTABLE TRINUCLEOTIDE CAG REPEAT IN SPINOCEREBELLAR ATAXIA TYPE-1 |
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| Author(s): ORR HT, CHUNG MY, BANFI S, KWIATKOWSKI TJ, SERVADIO A, BEAUDET AL, MCCALL AE, DUVICK LA, RANUM LPW, ZOGHBI HY |
| Source: NATURE GENETICS Volume: 4 Issue: 3 Pages: 221-226 Published: JUL 1993 |
| Times Cited: 1,110 References: 43 |
| Abstract: Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant disorder characterized by neurodegeneration of the cerebellum, spinal cord and brainstem. A 1.2-Megabase stretch of DNA from the short arm of chromosome 6 containing the SCA1 locus was isolated in a yeast artificial chromosome contig and subcloned into cosmids. A highly polymorphic CAG repeat was identified in this region and was found to be unstable and expanded in individuals with SCA1. There is a direct correlation between the size of the (CAG)n repeat expansion and the age-of-onset of SCA1, with larger alleles occurring in juvenile cases. We also show that the repeat is present in a 10 kilobase mRNA transcript. SCA1 is therefore the fifth genetic disorder to display a mutational mechanism involving an unstable trinucleotide repeat. |
| Document Type: Article |
| Language: English |
Addresses:
1. UNIV MINNESOTA, INST DEMOG & POPULAT GENET, MINNEAPOLIS, MN 55455 USA
2. UNIV MINNESOTA, DEPT LAB MED & PATHOL, MINNEAPOLIS, MN 55455 USA
3. BAYLOR COLL MED, DEPT PEDIAT, HOUSTON, TX 77030 USA
4. BAYLOR COLL MED, INST MOLEC GENET, HOUSTON, TX 77030 USA
5. BAYLOR COLL MED, HOWARD HUGHES MED INST, HOUSTON, TX 77030 USA |
| Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 |
| Subject Category: Genetics & Heredity |
| IDS Number: LJ842 |
| ISSN: 1061-4036 |
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