title: The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein.
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.
authors.affiliation: Molecular Neurogenetics Unit, Massachusetts General Hospital, Boston, USA. ozelius@helix.mgh.harvard.edu
authors.forename: L J
authors.initials: LJ
authors.lastname: Ozelius
authors.forename: J W
authors.initials: JW
authors.lastname: Hewett
authors.forename: C E
authors.initials: CE
authors.lastname: Page
authors.forename: S B
authors.initials: SB
authors.lastname: Bressman
authors.forename: P L
authors.initials: PL
authors.lastname: Kramer
authors.forename: C
authors.initials: C
authors.lastname: Shalish
authors.forename: D
authors.initials: D
authors.lastname: de Leon
authors.forename: M F
authors.initials: MF
authors.lastname: Brin
authors.forename: D
authors.initials: D
authors.lastname: Raymond
authors.forename: D P
authors.initials: DP
authors.lastname: Corey
authors.forename: S
authors.initials: S
authors.lastname: Fahn
authors.forename: N J
authors.initials: NJ
authors.lastname: Risch
authors.forename: A J
authors.initials: AJ
authors.lastname: Buckler
authors.forename: J F
authors.initials: JF
authors.lastname: Gusella
authors.forename: X O
authors.initials: XO
authors.lastname: Breakefield
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics; D017668:Age of Onset; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002352:Carrier Proteins / Q000737:chemistry; D002874:Chromosome Mapping; D002899:Chromosomes, Human, Pair 9; D004252:DNA Mutational Analysis; D004422:Dystonia Musculorum Deformans / Q000235:genetics*; D006580:Genetic Carrier Screening; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D007585:Jews / Q000235:genetics; D008214:Lymphocytes; D051379:Mice; D018832:Molecular Chaperones; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D051381:Rats; D011994:Recombinant Proteins / Q000096:biosynthesis; D016415:Sequence Alignment; D017384:Sequence Deletion; D017386:Sequence Homology, Amino Acid; D014158:Transcription, Genetic
chemical_list: D018528:ATP-Binding Cassette Transporters; D002352:Carrier Proteins; C491548:Dyt1 protein, mouse; D005819:Genetic Markers; D018832:Molecular Chaperones; D011994:Recombinant Proteins; C108175:TOR1A protein, human; C491549:Tor1a protein, rat