title: Dystonin transcripts are altered and their levels are reduced in the mouse neurological mutant dt24J.
abstract: Dystonia musculorum is a hereditary mouse neurodegenerative disorder that primarily affects the sensory arm of the nervous system. We have recently cloned and identified a candidate gene for this disorder and designated it dystonin. The sequence of dystonin predicts a rod-shaped cytoskeletal-associated protein with an actin-binding domain at the N-terminal end and a hemidesmosomal protein sequence (bpag1) at the C-terminal end. Here we show that abnormal dystonin transcripts are present in neural tissues of a spontaneous dystonia musculorum mutant, dt24J. We further show that dystonin transcript levels are reduced 2- to 3-fold in dt24J mice.
authors.affiliation: Centre de Recherche L.-C. Simard, Institut du cancer de Montréal, QC, Canada.
authors.forename: G
authors.initials: G
authors.lastname: Bernier
authors.forename: A
authors.initials: A
authors.lastname: Brown
authors.forename: G
authors.initials: G
authors.lastname: Dalpé
authors.forename: M
authors.initials: M
authors.lastname: Mathieu
authors.forename: Y
authors.initials: Y
authors.lastname: De Repentigny
authors.forename: R
authors.initials: R
authors.lastname: Kothary
mesh_terms: D000818:Animals; D002352:Carrier Proteins; D003598:Cytoskeletal Proteins / Q000235:genetics*; D000071821:Dystonin; D051379:Mice; D008818:Mice, Neurologic Mutants; D008822:Mice, Transgenic; D009419:Nerve Tissue Proteins / Q000235:genetics*; D017434:Protein Structure, Tertiary; D012333:RNA, Messenger / Q000235:genetics* / Q000378:metabolism
chemical_list: D002352:Carrier Proteins; D003598:Cytoskeletal Proteins; C095667:Dst protein, mouse; D000071821:Dystonin; D009419:Nerve Tissue Proteins; D012333:RNA, Messenger