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Biochem Cell Biol. 1995 Sep-Oct;73(9-10):605-9.

Dystonin transcripts are altered and their levels are reduced in the mouse neurological mutant dt24J.

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Centre de Recherche L.-C. Simard, Institut du cancer de Montréal, QC, Canada.


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.

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