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| SCA1 TRANSGENIC MICE - A MODEL FOR NEURODEGENERATION CAUSED BY AN EXPANDED CAG TRINUCLEOTIDE REPEAT |
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| Author(s): BURRIGHT EN, CLARK HB, SERVADIO A, MATILLA T, FEDDERSEN RM, YUNIS WS, DUVICK LA, ZOGHBI HY, ORR HT |
| Source: CELL Volume: 82 Issue: 6 Pages: 937-948 Published: SEP 22 1995 |
| Times Cited: 315 References: 41 |
| Abstract: Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant inherited disorder characterized by degeneration of cerebellar Purkinje cells, spinocerebellar tracts, and selective brainstem neurons owing to the expansion of an unstable CAG trinucleotide repeat. To gain insight into the pathogenesis of the SCA1 mutation and the intergenerational stability of trinucleotide repeats in mice, we have generated transgenic mice expressing the human SCA1 gene with either a normal or an expanded CAG tract. Both transgenes were stable in parent to offspring transmissions. While all six transgenic lines expressing the unexpanded human SCA1 allele had normal Purkinje cells, transgenic animals from five of six lines with the expanded SCA1 allele developed ataxia and Purkinje cell degeneration. These data indicate that expanded CAG repeats expressed in Purkinje cells are sufficient to produce degeneration and ataxia and demonstrate that a mouse model can be established for neurodegeneration caused by CAG repeat expansions. |
| Document Type: Article |
| Language: English |
| Reprint Address: BURRIGHT, EN (reprint author), UNIV MINNESOTA, INST HUMAN GENET, MINNEAPOLIS, MN 55455 USA |
Addresses:
1. UNIV MINNESOTA, DEPT LAB MED & PATHOL, MINNEAPOLIS, MN 55455 USA
2. UNIV MINNESOTA, DEPT NEUROL, MINNEAPOLIS, MN 55455 USA
3. UNIV MINNESOTA, DEPT BIOCHEM, MINNEAPOLIS, MN 55455 USA
4. BAYLOR COLL MED, DEPT PEDIAT, HOUSTON, TX 77030 USA
5. BAYLOR COLL MED, DEPT MOLEC & HUMAN GENET, HOUSTON, TX 77030 USA |
| Publisher: CELL PRESS, 50 CHURCH ST CIRCULATION DEPT, CAMBRIDGE, MA 02138 |
| Subject Category: Biochemistry & Molecular Biology; Cell Biology |
| IDS Number: RW693 |
| ISSN: 0092-8674 |
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