Molecular cloning and expression of rat torsinA in the normal and genetically dystonic (dt) rat
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Philipp Ziefer1, Joanne Leung, Tara Razzano
1Molecular Neurogenetics Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA. ziefer@ukl.uni-freiburg.de
Brain Research. Molecular Brain Research
|May 15, 2002
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.
