The Molecular Basis of Muscular Dystrophy in the mdx Mouse: A Point Mutation

• Published in: Science (American Association for the Advancement of Science) Vol. 244; no. 4912; pp. 1578 - 1580
• Main Authors: Sicinski, Piotr, Geng, Yan, Ryder-Cook, Allan S., Barnard, Eric A., Darlison, Mark G., Barnard, Pene J.
• Format: Journal Article
• Language: English
• Published: United States The American Association for the Advancement of Science 30.06.1989; American Association for the Advancement of Science
• Subjects: Amino Acid Sequence; Analysis; Animals; Base Sequence; Causes of; Chromosome abnormalities; Chromosome Mapping; Cloning, Molecular; Codon; Complementary DNA; DNA; DNA - genetics; DNA Probes; DNA-Directed DNA Polymerase; Duchenne muscular dystrophy; Dystrophin; Exons; Gene Amplification; Genetic mutation; Genetic transformation; Genetics; Gin; Humans; Mice; Mice, Mutant Strains; Molecular pathology; Molecular Sequence Data; Muscle Proteins - genetics; Muscular dystrophy; Muscular Dystrophy, Animal - genetics; Mutation; Nucleic Acid Hybridization; Nucleotides; Pathology, Molecular; Phenotype; Polymerase chain reaction; RNA
• ISSN: 0036-8075; 1095-9203
• DOI: 10.1126/science.2662404

The mdx mouse is an X-linked myopathic mutant, an animal model for human Duchenne muscular dystrophy. In both mouse and man the mutations lie within the dystrophin gene, but the phenotypic differences of the disease in the two species confer much interest on the molecular basis of the mdx mutation. The complementary DNA for mouse dystrophin has been cloned, and the sequence has been used in the polymerase chain reaction to amplify normal and mdx dystrophin transcripts in the area of the mdx mutation. Sequence analysis of the amplification products showed that the mdx mouse has a single base substitution within an exon, which causes premature termination of the polypeptide chain.