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| Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2 |
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| Author(s): Pulst SM, Nechiporuk A, Nechiporuk T, Gispert S, Chen XN, LopesCendes I, Pearlman S, Starkman S, OrozcoDiaz G, Lunkes A, DeJong P, Rouleau GA, Auburger G, Korenberg JR, Figueroa C, Sahba S |
| Source: NATURE GENETICS Volume: 14 Issue: 3 Pages: 269-276 Published: NOV 1996 |
| Times Cited: 523 References: 40 |
| Abstract: The gene for spinocerebellar ataxia type 2 (SCA2) has been mapped to 12q24.1. A 1.1-megabase contig in the candidate region was assembled in P1 artificial chromosome and bacterial artificial chromosome clones. Using this contig, we identified a CAG trinucleotide repeat with CAA interruptions that was expanded in patients with SCA2. In contrast to other unstable trinucleotide repeats, this CAG repeat was not highly polymorphic in normal individuals. In SCA2 patients, the repeat was perfect and expanded to 36-52 repeats. The most common disease allele contained (CAG)(37), one of the shortest expansions seen in a CAG expansion syndrome. The repeat occurs in the 5'-coding region of SCA2 which is a member of a novel gene family. |
| Document Type: Article |
| Language: English |
| Reprint Address: Pulst, SM (reprint author), UNIV CALIF LOS ANGELES, CEDARS SINAI MED CTR, SCH MED, BURNS & ALLEN RES INST, LOS ANGELES, CA 90048 USA |
Addresses:
1. UNIV CALIF LOS ANGELES, CEDARS SINAI MED CTR, SCH MED, DIV NEUROL, LOS ANGELES, CA 90048 USA
2. UNIV DUSSELDORF, DEPT NEUROL, D-4000 DUSSELDORF 1, GERMANY
3. ROSWELL PK CANC INST, DEPT HUMAN GENET, BUFFALO, NY 14263 USA
4. UNIV CALIF LOS ANGELES, SCH MED, DEPT NEUROL, LOS ANGELES, CA 90069 USA
5. LENIN HOSP, NEUROL SERV, HOLGUIN, CUBA
6. MCGILL UNIV, MONTREAL GEN HOSP, CTR RES NEUROSCI, MONTREAL, PQ H3G 1A4 CANADA
7. UNIV CALIF LOS ANGELES, CEDARS SINAI MED CTR, SCH MED, DIV MED GENET, LOS ANGELES, CA 90048 USA |
| Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 |
| Subject Category: Genetics & Heredity |
| IDS Number: VQ146 |
| ISSN: 1061-4036 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |