title: Developmental patterns of torsinA and torsinB expression.
abstract: Early onset torsion dystonia is characterized by involuntary movements and distorted postures and is usually caused by a 3-bp (GAG) deletion in the DYT1 (TOR1A) gene. DYT1 codes for torsinA, a member of the AAA+ family of proteins, implicated in membrane recycling and chaperone functions. A close relative, torsinB may be involved in similar cellular functions. We investigated torsinA and torsinB message and protein levels in the developing mouse brain. TorsinA expression was highest during prenatal and early postnatal development (until postnatal day 14; P14), whereas torsinB expression was highest during late postnatal periods (from P14 onwards) and in the adult. In addition, significant regional variation in the expression of the two torsins was seen within the developing brain. Thus, torsinA expression was highest in the cerebral cortex from embryonic day 15 (E15)-E17 and in the striatum from E17-P7, while torsinB was highest in the cerebral cortex between P7-P14 and in the striatum from P7-P30. TorsinA was also highly expressed in the thalamus from P0-P7 and in the cerebellum from P7-P14. Although functional significance of the patterns of torsinA and B expression in the developing brain remains to be established, our findings provide a basis for investigating the role of torsins in specific processes such as neurogenesis, neuronal migration, axon/dendrite development, and synaptogenesis.
authors.affiliation: Developmental Neurobiology, Massachusetts General Hospital, 13th street, Building 149, 6th floor, Charlestown, MA 02129, USA. avasudevan@bics.bwh.harvard.edu
authors.forename: Anju
authors.initials: A
authors.lastname: Vasudevan
authors.forename: Xandra O
authors.initials: XO
authors.lastname: Breakefield
authors.forename: Pradeep G
authors.initials: PG
authors.lastname: Bhide
mesh_terms: D000367:Age Factors; D000818:Animals; D015152:Blotting, Northern / Q000379:methods; D015153:Blotting, Western / Q000379:methods; D001921:Brain / Q000196:embryology / Q000254:growth & development / Q000378:metabolism*; D002352:Carrier Proteins / Q000235:genetics / Q000378:metabolism*; D005260:Female; D018507:Gene Expression Regulation, Developmental / Q000502:physiology*; D051379:Mice; D018832:Molecular Chaperones / Q000235:genetics / Q000378:metabolism*; D008970:Molecular Weight; D011247:Pregnancy
chemical_list: D002352:Carrier Proteins; C491548:Dyt1 protein, mouse; D018832:Molecular Chaperones; C400325:Tor1b protein, mouse