Molecular cloning and expression of rat torsinA in the normal and genetically dystonic (dt) rat.
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.
Ziefer
Philipp
P
Molecular Neurogenetics Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA. ziefer@ukl.uni-freiburg.de
Leung
Joanne
J
Razzano
Tara
T
Shalish
Christo
C
LeDoux
Mark S
MS
Lorden
Joan F
JF
Ozelius
Laurie
L
Breakefield
Xandra O
XO
Standaert
David G
DG
Augood
Sarah J
SJ
D000818:Animals; D001921:Brain / Q000378:metabolism* / Q000473:pathology / Q000503:physiopathology; D002352:Carrier Proteins / Q000235:genetics / Q000302:isolation & purification*; D003001:Cloning, Molecular; D004195:Disease Models, Animal; D004422:Dystonia Musculorum Deformans / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D015870:Gene Expression / Q000502:physiology*; D006801:Humans; D051379:Mice; D018832:Molecular Chaperones; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D009474:Neurons / Q000378:metabolism* / Q000473:pathology; D012333:RNA, Messenger / Q000378:metabolism*; D051381:Rats; D011922:Rats, Mutant Strains; D017207:Rats, Sprague-Dawley; D017386:Sequence Homology, Amino Acid; D012689:Sequence Homology, Nucleic Acid
D002352:Carrier Proteins; C491548:Dyt1 protein, mouse; D018832:Molecular Chaperones; D012333:RNA, Messenger; C108175:TOR1A protein, human; C491549:Tor1a protein, rat