Results

RDF/XMLNTriplesTurtleShow queryShare ▶
SubjectPredicateObject
http://purl.uniprot.org/citations/10996789http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/10996789http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/10996789http://www.w3.org/2000/01/rdf-schema#comment"

Background

Dystrophin is the product of the gene that is mutated in Duchenne muscular dystrophy (DMD), a progressive neuromuscular disease for which no treatment is available. Mice carrying a mutation in the gene for dystrophin (mdx mice) display only a mild phenotype, but it is aggravated when combined with a mutation in the MyoD gene. The nematode worm Caenorhabditis elegans has a dystrophin homologue (dys-1), but null mutations in dys-1 do not result in muscle degeneration.

Results

We generated worms carrying both the dys-1 null mutation cx18, and a weak mutation, cc561ts, of the C. elegans MyoD homologue hlh-1. The double mutants displayed a time-dependent impairment of locomotion and egg laying, a phenotype not seen in the single mutants, and extensive muscle degeneration. This result allowed us to look for genes that, when misexpressed, could suppress the dys-1; hlh-1 phenotype. When overexpressed, the dyc-1 gene - whose loss-of-function phenotype resembles that of dys-1 - partially suppressed the dys-1; hlh-1 phenotype. The dyc-1 gene encodes a novel protein sharing similarities with the mammalian neural nitric oxide synthase (nNOS)-binding protein CAPON, and is expressed in the muscles of the worm.

Conclusions

As a C. elegans model for dystrophin-dependent myopathy, the dys-1; hlh-1 worms should permit the identification of genes, and ultimately drugs, that would reverse the muscle degeneration in this model."xsd:string
http://purl.uniprot.org/citations/10996789http://purl.org/dc/terms/identifier"doi:10.1016/s0960-9822(00)00691-6"xsd:string
http://purl.uniprot.org/citations/10996789http://purl.org/dc/terms/identifier"doi:10.1016/s0960-9822(00)00691-6"xsd:string
http://purl.uniprot.org/citations/10996789http://purl.uniprot.org/core/author"Segalat L."xsd:string
http://purl.uniprot.org/citations/10996789http://purl.uniprot.org/core/author"Segalat L."xsd:string
http://purl.uniprot.org/citations/10996789http://purl.uniprot.org/core/author"Gieseler K."xsd:string
http://purl.uniprot.org/citations/10996789http://purl.uniprot.org/core/author"Gieseler K."xsd:string
http://purl.uniprot.org/citations/10996789http://purl.uniprot.org/core/author"Grisoni K."xsd:string
http://purl.uniprot.org/citations/10996789http://purl.uniprot.org/core/author"Grisoni K."xsd:string
http://purl.uniprot.org/citations/10996789http://purl.uniprot.org/core/date"2000"xsd:gYear
http://purl.uniprot.org/citations/10996789http://purl.uniprot.org/core/date"2000"xsd:gYear
http://purl.uniprot.org/citations/10996789http://purl.uniprot.org/core/name"Curr. Biol."xsd:string
http://purl.uniprot.org/citations/10996789http://purl.uniprot.org/core/name"Curr. Biol."xsd:string
http://purl.uniprot.org/citations/10996789http://purl.uniprot.org/core/pages"1092-1097"xsd:string
http://purl.uniprot.org/citations/10996789http://purl.uniprot.org/core/pages"1092-1097"xsd:string
http://purl.uniprot.org/citations/10996789http://purl.uniprot.org/core/title"Genetic suppression of phenotypes arising from mutations in dystrophin-related genes in Caenorhabditis elegans."xsd:string
http://purl.uniprot.org/citations/10996789http://purl.uniprot.org/core/title"Genetic suppression of phenotypes arising from mutations in dystrophin-related genes in Caenorhabditis elegans."xsd:string
http://purl.uniprot.org/citations/10996789http://purl.uniprot.org/core/volume"10"xsd:string
http://purl.uniprot.org/citations/10996789http://purl.uniprot.org/core/volume"10"xsd:string
http://purl.uniprot.org/citations/10996789http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/10996789
http://purl.uniprot.org/citations/10996789http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/10996789
http://purl.uniprot.org/citations/10996789http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/10996789
http://purl.uniprot.org/citations/10996789http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/10996789
▶