Dystonia musculorum (dt) is a hereditary neurodegenerative disease in mice that leads to a sensory ataxia. We describe cloning of a candidate dt gene, dystonin, that is predominantly expressed in the dorsal root ganglia and other sites of neurodegeneration in dt mice. Dystonin encodes an N-terminal actin binding domain and a C-terminal portion comprised of the hemidesmosomal protein, bullous pemphigoid antigen 1 (bpag1). dt and bpag1 are part of the same transcription unit which is partially deleted in a transgenic strain of mice, Tg4, that harbours an insertional mutation at the dt locus, and in mice that carry a spontaneous dt mutation, dtAlb. We also demonstrate abnormal dystonin transcripts in a second dt mutant, dt24J. We conclude that mutations in the dystonin gene are the primary genetic lesion in dt mice.
Pubmed ID: 7670468 RIS Download
Mesh terms: Amino Acid Sequence | Animals | Autoantigens | Base Sequence | Carrier Proteins | Collagen | Cytoskeletal Proteins | DNA, Complementary | Dystonia Musculorum Deformans | Dystonin | Gene Expression | Humans | In Situ Hybridization | Mice | Mice, Transgenic | Molecular Sequence Data | Mutation | Nerve Tissue Proteins | Non-Fibrillar Collagens | Pemphigoid, Bullous | Sequence Homology, Amino Acid | Species Specificity | Transcription, Genetic
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