DYSTONIN TRANSCRIPTS ARE ALTERED AND THEIR LEVELS ARE REDUCED IN THE MOUSE NEUROLOGICAL MUTANT DT(24J)

Dystonia musculorum is a hereditary mouse neurodegenerative disorder t hat primarily affects the sensory arm of the nervous system. We have r ecently cloned and identified a candidate gene for this disorder and d esignated 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-te rminal end. Here we show that abnormal dystonin transcripts are presen t in neural tissues of a spontaneous dystonia musculorum mutant, dt(24 J). We further show that dystonin transcript levels are reduced 2- to 3-fold in dt(24J) mice.