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PMID:11243807
| Citation |
Gieseler, K, Mariol, MC, Bessou, C, Migaud, M, Franks, CJ, Holden-Dye, L and Ségalat, L (2001) Molecular, genetic and physiological characterisation of dystrobrevin-like (dyb-1) mutants of Caenorhabditis elegans. J. Mol. Biol. 307:107-17 |
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| Abstract |
Dystrobrevins are protein components of the dystrophin complex, whose disruption leads to Duchenne muscular dystrophy and related diseases. The Caenorhabditis elegans dystrobrevin gene (dyb-1) encodes a protein 38 % identical with its mammalian counterparts. The C. elegans dystrobrevin is expressed in muscles and neurons. We characterised C. elegans dyb-1 mutants and showed that: (1) their behavioural phenotype resembles that of dystrophin (dys-1) mutants; (2) the phenotype of dyb-1 dys-1 double mutants is not different from the single ones; (3) dyb-1 mutants are more sensitive than wild-type animals to reductions of acetylcholinesterase levels and have an increased response to acetylcholine; (4) dyb-1 mutations alone do not lead to muscle degeneration, but synergistically produce a progressive myopathy when combined with a mild MyoD/hlh-1 mutation. All together, these findings further substantiate the role of dystrobrevins in cholinergic transmission and as functional partners of dystrophin. |
| Links |
PubMed Online version:10.1006/jmbi.2000.4480 |
| Keywords |
Acetylcholine/physiology; Acetylcholinesterase/metabolism; Amino Acid Sequence; Animals; Caenorhabditis elegans/genetics; Caenorhabditis elegans/physiology; Caenorhabditis elegans Proteins; Cloning, Molecular; Disease Models, Animal; Electrophysiology; Fluoresceins; Gene Expression; Helminth Proteins/genetics; Helminth Proteins/physiology; Molecular Sequence Data; Muscular Diseases/genetics; Muscular Diseases/physiopathology; Mutation; Myogenic Regulatory Factors; Nerve Tissue Proteins; Neuropeptides/genetics; Neuropeptides/physiology; Ouabain/analogs & derivatives; Phenotype; Sequence Homology, Amino Acid; Transcription Factors/genetics; Transcription Factors/physiology |
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Significance
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| Gene product | Qualifier | GO ID | GO term name | Evidence Code | with/from | Aspect | Notes | Status |
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