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PMID: 8896556 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT.

Nature genetics ·Vol. 14 ·No. 3 ·1996-11-00 ·Pages 277-84

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

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.

MeSH Terms

Amino Acid Sequence Ataxins Base Sequence Cloning, Molecular/methods DNA Probes Female Humans In Situ Hybridization/methods Male Molecular Sequence Data Nerve Tissue Proteins Pedigree Proteins/genetics Sequence Analysis, DNA Spinocerebellar Degenerations/classification,genetics Trinucleotide Repeats

Chemicals

Ataxins DNA Probes Nerve Tissue Proteins Proteins

Authors & Affiliations

25 authors, click to expand affiliations / ORCID

Sanpei K

Department of Neurology, Niigata University, Japan.

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

Article Info

Journal

Nature genetics

Abbr.

Nat Genet

ISSN

1061-4036

DOI

10.1038/ng1196-277

Published

1996-11-00

Pages

277-84

Language

English

Region

United States

NLM ID

9216904

Subset

Databases

GENBANK

H50597, H70616, H92425, H92640, H94634, N39431, N90240, R00491, R10603, R10604, R12495, T55469, T63434, W39162, W93243, W94634, W94719, Z13574, Z35637

Corrections

CommentIn

PMID: 8896544

External Links

PubMed source DOI: 10.1038/ng1196-277 View journal details

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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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