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| Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT |
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| Author(s): Sanpei K, Takano H, Igarashi S, Sato T, Oyake M, Sasaki H, Wakisaka A, Tashiro K, Ishida Y, Ikeuchi T, Koide R, Saito M, Sato A, Tanaka T, Hanyu S, Takiyama Y, Nishizawa M, Shimizu N, Nomura Y, Segawa M, Iwabuchi K, Eguchi I, Tanaka H, Takahashi H, Tsuji S |
| Source: NATURE GENETICS Volume: 14 Issue: 3 Pages: 277-284 Published: NOV 1996 |
| Times Cited: 422 References: 37 |
| Abstract: Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant, neurodegenerative disorder that affects the cerebellum and other areas of the central nervous system. We have devised a novel strategy, the direct identification of repeat expansion and cloning technique (DIRECT), which allows selective detection of expanded CAG repeats and cloning of the genes involved. By applying DIRECT, we identified an expanded CAG repeat Of the gene for SCA2. CAG repeats of normal alleles range in size from 15 to 24 repeat units, while those of SCA2 chromosomes are expanded to 35 to 59 repeat units. The SCA2 cDNA is predicted to code for 1,313 amino acids - with the CAG repeats coding for a polyglutamine tract. DIRECT is a robust strategy for identification of pathologically expanded trinucleotide repeats and will dramatically accelerate the search for causative genes of neuropsychiatric diseases caused by trinucleotide repeat expansions. |
| Document Type: Article |
| Language: English |
Addresses:
1. NIIGATA UNIV, BRAIN RES INST, DEPT NEUROL, NIIGATA 951, JAPAN
2. NIIGATA UNIV, BRAIN RES INST, DEPT PATHOL, NIIGATA 951, JAPAN
3. HOKKAIDO UNIV, SCH MED, DEPT PATHOL 1, KITA KU, SAPPORO, HOKKAIDO 060 JAPAN
4. NIIGATA UNIV, SCH MED, DEPT PSYCHIAT, NIIGATA 951, JAPAN
5. JICHI MED SCH, DEPT NEUROL, MINAMI KAWACHI, TOCHIGI 32904 JAPAN
6. TEIKYO UNIV, SCH MED, ICHIHARA HOSP, DEPT NEUROL, ICHIHARA 29901, JAPAN
7. SEGAWA NEUROL CLIN CHILDREN, CHIYODA KU, TOKYO 101, JAPAN
8. KANAGAWA REHABIL CTR, DEPT NEUROL & PSYCHIAT, ATSUGI, KANAGAWA 24301 JAPAN |
| 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® | | | | | | | | | |