Abstract
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.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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ATP-Binding Cassette Transporters / genetics
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Age of Onset
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Amino Acid Sequence
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Animals
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Base Sequence
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Carrier Proteins / chemistry
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Chromosome Mapping
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Chromosomes, Human, Pair 9*
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DNA Mutational Analysis
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Dystonia Musculorum Deformans / genetics*
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Genetic Carrier Screening
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Genetic Linkage
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Genetic Markers
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Humans
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Jews / genetics
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Lymphocytes
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Mice
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Molecular Chaperones*
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Molecular Sequence Data
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Point Mutation
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Polymerase Chain Reaction
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Polymorphism, Single-Stranded Conformational
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Rats
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Recombinant Proteins / biosynthesis
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Sequence Alignment
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Sequence Deletion
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Sequence Homology, Amino Acid
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Transcription, Genetic
Substances
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ATP-Binding Cassette Transporters
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Carrier Proteins
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Dyt1 protein, mouse
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Genetic Markers
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Molecular Chaperones
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Recombinant Proteins
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TOR1A protein, human
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Tor1a protein, rat
Associated data
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GENBANK/AF007871
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GENBANK/AF007872