Document Detail

The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein.
MedLine Citation:
PMID:  9288096     Owner:  NLM     Status:  MEDLINE    
Early-onset torsion dystonia is a movement disorder, characterized by twisting muscle contractures, that begins in childhood. Symptoms are believed to result from altered neuronal communication in the basal ganglia. This study identifies the DYT1 gene on human chromosome 9q34 as being responsible for this dominant disease. Almost all cases of early-onset dystonia have a unique 3-bp deletion that appears to have arisen idependently in different ethnic populations. This deletion results in loss of one of a pair of glutamic-acid residues in a conserved region of a novel ATP-binding protein, termed torsinA. This protein has homologues in nematode, rat, mouse and humans, with some resemblance to the family of heat-shock proteins and Clp proteases.
L J Ozelius; J W Hewett; C E Page; S B Bressman; P L Kramer; C Shalish; D de Leon; M F Brin; D Raymond; D P Corey; S Fahn; N J Risch; A J Buckler; J F Gusella; X O Breakefield
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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:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  9216904     Medline TA:  Nat Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  40-8     Citation Subset:  IM    
Molecular Neurogenetics Unit, Massachusetts General Hospital, Boston, USA.
Data Bank Information
Bank Name/Acc. No.:
GENBANK/AF007871;  AF007872
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MeSH Terms
ATP-Binding Cassette Transporters / genetics
Age of Onset
Amino Acid Sequence
Base Sequence
Carrier Proteins / chemistry
Chromosome Mapping
Chromosomes, Human, Pair 9*
DNA Mutational Analysis
Dystonia Musculorum Deformans / genetics*
Genetic Markers
Heterozygote Detection
Jews / genetics
Linkage (Genetics)
Molecular Chaperones*
Molecular Sequence Data
Point Mutation
Polymerase Chain Reaction
Polymorphism, Single-Stranded Conformational
Recombinant Proteins / biosynthesis
Sequence Alignment
Sequence Deletion
Sequence Homology, Amino Acid
Transcription, Genetic
Grant Support
Reg. No./Substance:
0/ATP-Binding Cassette Transporters; 0/Carrier Proteins; 0/Dyt1 protein, mouse; 0/Dyt1 protein, rat; 0/Genetic Markers; 0/Molecular Chaperones; 0/Recombinant Proteins; 0/TOR1A protein, human

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

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