title: Absence of mutations in the survival motor neuron cDNA from labrador retrievers with an inherited myopathy.
abstract: The clinical phenotype of hereditary myopathy of labrador retrievers is consistent, but the pathological changes within muscle biopsy specimens can vary from type 1 fibre predominance (type 2 fibre deficiency) to dystrophic changes or overt neurogenic atrophy. The condition shares many clinical and pathological features with the mildest form of human childhood spinal muscular atrophy, and the survival motor neuron gene was therefore evaluated in dogs with the disease. Direct sequencing and comparisons of cdna from the gene in seven labrador retrievers homozygous for the disease and four control dogs revealed no nucleotide mutations leading to changes in the deduced amino acid sequences. A single polymorphism was detected in two of the seven affected dogs, which was characterised by a nucleotide substitution at amino acid position 1155 within the non-coding 3' untranslated region of exon 8. Northern blot analysis indicated that there were no differences in the steady state levels of mrna from the gene of the affected labrador retrievers and control dogs.
authors.affiliation: Department of Comparative Medicine, Stanford University School of Medicine, Stanford CA 94305, USA.
authors.forename: S L
authors.initials: SL
authors.lastname: Green
authors.forename: R J
authors.initials: RJ
authors.lastname: Tolwani
authors.forename: S
authors.initials: S
authors.lastname: Varma
authors.forename: G D
authors.initials: GD
authors.lastname: Shelton
mesh_terms: D000818:Animals; D001483:Base Sequence / Q000235:genetics*; D018076:DNA, Complementary / Q000235:genetics*; D004283:Dog Diseases / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D004285:Dogs; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D020914:Myopathies, Structural, Congenital / Q000473:pathology / Q000503:physiopathology / Q000662:veterinary*; D014897:Spinal Muscular Atrophies of Childhood / Q000235:genetics* / Q000473:pathology
chemical_list: D018076:DNA, Complementary