Document Detail


An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)
MedLine Citation:
PMID:  10192387     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
M D Koob; M L Moseley; L J Schut; K A Benzow; T D Bird; J W Day; L P Ranum
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Nature genetics     Volume:  21     ISSN:  1061-4036     ISO Abbreviation:  Nat. Genet.     Publication Date:  1999 Apr 
Date Detail:
Created Date:  1999-04-26     Completed Date:  1999-04-26     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  9216904     Medline TA:  Nat Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  379-84     Citation Subset:  IM    
Affiliation:
Department of Neurology, Institute of Human Genetics, University of Minnesota, Minneapolis 55455, USA. koobx001@gold.tc.umn.edu
Data Bank Information
Bank Name/Acc. No.:
GENBANK/AF126748;  AF126749
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MeSH Terms
Descriptor/Qualifier:
Alleles
Female
Genes, Dominant
Humans
Male
Molecular Sequence Data
Pedigree
Polymerase Chain Reaction
Random Amplified Polymorphic DNA Technique
Spinocerebellar Degenerations / genetics*
Transcription, Genetic
Trinucleotide Repeats*
Untranslated Regions*
Grant Support
ID/Acronym/Agency:
P01 NS33718/NS/NINDS NIH HHS; R01 NS36282/NS/NINDS NIH HHS
Chemical
Reg. No./Substance:
0/Untranslated Regions
Comments/Corrections
Comment In:
Nat Genet. 2000 Mar;24(3):213; author reply 215   [PMID:  10700167 ]
Nat Genet. 2000 Mar;24(3):214-5   [PMID:  10700168 ]

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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