Abstract
Deletions within the TOR1A gene cause early-onset (DYT1) torsion dystonia. We have cloned and sequenced the rat cDNA homologue of TOR1A and found a 91% identity with the human sequence. Northern blot analysis detects a single transcript of approximately 1.5 kb. In situ hybridization reveals a widespread distribution of torsinA mRNA within brain. No mutations were identified in the coding region of the gene in the genetically dystonic (dt) rat.
Publication types
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Comparative Study
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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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Animals
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Brain / metabolism*
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Brain / pathology
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Brain / physiopathology
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Carrier Proteins / genetics
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Carrier Proteins / isolation & purification*
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Cloning, Molecular
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Disease Models, Animal
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Dystonia Musculorum Deformans / genetics*
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Dystonia Musculorum Deformans / metabolism
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Dystonia Musculorum Deformans / physiopathology
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Gene Expression / physiology*
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Humans
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Mice
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Molecular Chaperones*
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Molecular Sequence Data
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Mutation / genetics
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Neurons / metabolism*
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Neurons / pathology
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RNA, Messenger / metabolism*
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Rats
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Rats, Mutant Strains
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Rats, Sprague-Dawley
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Sequence Homology, Amino Acid
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Sequence Homology, Nucleic Acid
Substances
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Carrier Proteins
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Dyt1 protein, mouse
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Molecular Chaperones
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RNA, Messenger
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TOR1A protein, human
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Tor1a protein, rat