doi: 10.1038/7710.
An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)
Affiliations
- PMID: 10192387
- DOI: 10.1038/7710
Item in Clipboard
An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)
Nat Genet.
1999 Apr.
Abstract
Myotonic dystrophy (DM) is the only disease reported to be caused by a CTG expansion. We now report that a non-coding CTG expansion causes a novel form of spinocerebellar ataxia (SCA8). This expansion, located on chromosome 13q21, was isolated directly from the genomic DNA of an ataxia patient by RAPID cloning. SCA8 patients have expansions similar in size (107-127 CTG repeats) to those found among adult-onset DM patients. SCA8 is the first example of a dominant SCA not caused by a CAG expansion translated as a polyglutamine tract.
Comment in
-
Are (CTG)n expansions at the SCA8 locus rare polymorphisms?Nat Genet. 2000 Mar;24(3):213; author reply 215. doi: 10.1038/73408. Nat Genet. 2000. PMID: 10700167 No abstract available.
-
Large, expanded repeats in SCA8 are not confined to patients with cerebellar ataxia.Nat Genet. 2000 Mar;24(3):214-5. doi: 10.1038/73411. Nat Genet. 2000. PMID: 10700168 No abstract available.
Similar articles
-
Possible reduced penetrance of expansion of 44 to 47 CAG/CAA repeats in the TATA-binding protein gene in spinocerebellar ataxia type 17.Arch Neurol. 2004 Feb;61(2):209-12. doi: 10.1001/archneur.61.2.209. Arch Neurol. 2004. PMID: 14967767
-
Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT.Nat Genet. 1996 Nov;14(3):277-84. doi: 10.1038/ng1196-277. Nat Genet. 1996. PMID: 8896556
-
Analysis of SCA8 and SCA12 loci in 134 Italian ataxic patients negative for SCA1-3, 6 and 7 CAG expansions.J Neurol. 2002 Jul;249(7):923-9. doi: 10.1007/s00415-002-0760-y. J Neurol. 2002. PMID: 12140678
-
Spinocerebellar ataxia type 1.Clin Neurosci. 1995;3(1):5-11. Clin Neurosci. 1995. PMID: 7614095 Review.
-
[Growing genes cause neurological diseases].Lakartidningen. 1999 Feb 24;96(8):897-900. Lakartidningen. 1999. PMID: 10089735 Review. Swedish.
Cited by
-
Elimination of the actin-binding domain in kelch-like 1 protein induces T-type calcium channel modulation only in the presence of action potential waveforms.J Signal Transduct. 2012;2012:505346. doi: 10.1155/2012/505346. Epub 2012 Jul 11. J Signal Transduct. 2012. PMID: 22848812 Free PMC article.
-
RNA-binding proteins in microsatellite expansion disorders: mediators of RNA toxicity.Brain Res. 2012 Jun 26;1462:100-11. doi: 10.1016/j.brainres.2012.02.030. Epub 2012 Feb 22. Brain Res. 2012. PMID: 22405728 Free PMC article. Review.
-
Ribosomal quality control factors inhibit repeat-associated non-AUG translation from GC-rich repeats.Nucleic Acids Res. 2024 Jun 10;52(10):5928-5949. doi: 10.1093/nar/gkae137. Nucleic Acids Res. 2024. PMID: 38412259 Free PMC article.
-
Non-coding RNA in neural function, disease, and aging.Front Genet. 2015 Mar 9;6:87. doi: 10.3389/fgene.2015.00087. eCollection 2015. Front Genet. 2015. PMID: 25806046 Free PMC article. Review.
-
Repeat expansion disease: progress and puzzles in disease pathogenesis.Nat Rev Genet. 2010 Apr;11(4):247-58. doi: 10.1038/nrg2748. Nat Rev Genet. 2010. PMID: 20177426 Free PMC article. Review.
Publication types
MeSH terms
Substances
Associated data
- Actions
- Actions
Grants and funding
LinkOut - more resources
Full Text Sources
Other Literature Sources
Molecular Biology Databases
