Document Detail


Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion.
MedLine Citation:
PMID:  9288099     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The gene for spinocerebellar ataxia 7 (SCA7) has been mapped to chromosome 3p12-13. By positional cloning, we have identified a new gene of unknown function containing a CAG repeat that is expanded in SCA7 patients. On mutated alleles, CAG repeat size is highly variable, ranging from 38 to 130 repeats, whereas on normal alleles it ranges from 7 to 17 repeats. Gonadal instability in SCA7 is greater than that observed in any of the seven known neuro-degenerative diseases caused by translated CAG repeat expansions, and is markedly associated with paternal transmissions. SCA7 is the first such disorder in which the degenerative process also affects the retina.
Authors:
G David; N Abbas; G Stevanin; A Dürr; G Yvert; G Cancel; C Weber; G Imbert; F Saudou; E Antoniou; H Drabkin; R Gemmill; P Giunti; A Benomar; N Wood; M Ruberg; Y Agid; J L Mandel; A Brice
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Nature genetics     Volume:  17     ISSN:  1061-4036     ISO Abbreviation:  Nat. Genet.     Publication Date:  1997 Sep 
Date Detail:
Created Date:  1997-10-02     Completed Date:  1997-10-02     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  9216904     Medline TA:  Nat Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  65-70     Citation Subset:  IM    
Affiliation:
INSERM U289, Hôpital de la Salpêtrière, Paris, France.
Data Bank Information
Bank Name/Acc. No.:
GENBANK/AJ000517
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MeSH Terms
Descriptor/Qualifier:
Adult
Age of Onset
Aged
Alleles
Amino Acid Sequence
Chromosome Mapping
Chromosomes, Artificial, Yeast
Chromosomes, Human, Pair 3*
Cloning, Molecular
Female
Genetic Markers
Genetic Variation
Genomic Imprinting
Humans
Male
Middle Aged
Molecular Sequence Data
Nerve Tissue Proteins / biosynthesis,  chemistry,  genetics*
Retina / pathology
Retinal Degeneration / genetics,  physiopathology
Spinocerebellar Degenerations / genetics*,  mortality,  physiopathology
Trinucleotide Repeats*
Grant Support
ID/Acronym/Agency:
R01 HG000358/HG/NHGRI NIH HHS
Chemical
Reg. No./Substance:
0/Genetic Markers; 0/Nerve Tissue Proteins; 0/ataxin-7

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


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