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      New mdx mutation disrupts expression of muscle and nonmuscle isoforms of dystrophin.

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      Publication date:
      Journal: Nature genetics
      Keywords: Animals, Base Sequence, Cloning, Molecular, DNA Mutational Analysis, Dystrophin, genetics, Exons, Female, Gene Expression Regulation, Male, Mice, Mice, Inbred C57BL, Mice, Mutant Strains, Molecular Sequence Data, Muscle Proteins, biosynthesis, Muscular Dystrophy, Animal, Mutagenesis, Organ Specificity, Phenotype, Polymorphism, Restriction Fragment Length, RNA Splicing, RNA, Messenger

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          Abstract

          The dystrophin gene encodes several tissue-specific protein isoforms that are generated by alternative splicing and by transcription from at least three separate promoters. We have characterized the mutation in a new strain of mdx mice that results in aberrant splicing of both the 14 and 4.8 kilobase dystrophin mRNAs and disrupts expression of the muscle and brain 427K and nonmuscle 70K isoforms of dystrophin. In contrast, we have determined that expression of the 70K isoform is normal in the original mdx mutant. We have cloned the unique 5' exon of the murine 4.8 kb mRNA and have analysed the tissue distribution and aberrant splicing of this transcript in the mdx3Cv mutant. This new mdx mutant will provide an improved model system for functional studies of the dystrophin C-terminus in muscle and nonmuscle tissues.

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          Most cited references28

          • Record: found
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          Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

          Raymond J. MacDonald, Alan Przybyla, John Chirgwin … (2002)
          Article 0 comments Cited 514 times – based on 0 reviews     Review now
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            Rapid production of full-length cDNAs from rare transcripts: amplification using a single gene-specific oligonucleotide primer.

            M A Frohman, M Dush, G Martin (1988)
            We have devised a simple and efficient cDNA cloning strategy that overcomes many of the difficulties encountered in obtaining full-length cDNA clones of low-abundance mRNAs. In essence, cDNAs are generated by using the DNA polymerase chain reaction technique to amplify copies of the region between a single point in the transcript and the 3' or 5' end. The minimum information required for this amplification is a single short stretch of sequence within the mRNA to be cloned. Since the cDNAs can be produced in one day, examined by Southern blotting the next, and readily cloned, large numbers of full-length cDNA clones of rare transcripts can be rapidly produced. Moreover, separation of amplified cDNAs by gel electrophoresis allows precise selection by size prior to cloning and thus facilitates the isolation of cDNAs representing variant mRNAs, such as those produced by alternative splicing or by the use of alternative promoters. The efficacy of this method was demonstrated by isolating cDNA clones of mRNA from int-2, a mouse gene that expresses four different transcripts at low abundance, the longest of which is approximately 2.9 kilobases. After less than 0.05% of the cDNAs produced had been screened, 29 independent int-2 clones were isolated. Sequence analysis demonstrated that the 3' and 5' ends of all four int-2 mRNAs were accurately represented by these clones.
            Article 0 comments Cited 334 times – based on 0 reviews     Review now
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              Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix.

              O. Ibraghimov-Beskrovnaya, J Ervasti, C Leveille … (1992)
              The primary sequence of two components of the dystrophin-glycoprotein complex has been established by complementary, DNA cloning. The transmembrane 43K and extracellular 156K dystrophin-associated glycoproteins (DAGs) are encoded by a single messenger RNA and the extracellular 156K DAG binds laminin. Thus, the 156K DAG is a new laminin-binding glycoprotein which may provide a linkage between the sarcolemma and extracellular matrix. These results support the hypothesis that the dramatic reduction in the 156K DAG in Duchenne muscular dystrophy leads to a loss of a linkage between the sarcolemma and extracellular matrix and that this may render muscle fibres more susceptible to necrosis.
              Article 0 comments Cited 249 times – based on 0 reviews     Review now
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                Author and article information

                Journal
                PubMed ID:: 8099842
                DOI:: 10.1038/ng0593-87

                ScienceOpen disciplines: Chemistry
                Keywords: Animals,Base Sequence,Cloning, Molecular,DNA Mutational Analysis,Dystrophin,genetics,Exons,Female,Gene Expression Regulation,Male,Mice,Mice, Inbred C57BL,Mice, Mutant Strains,Molecular Sequence Data,Muscle Proteins,biosynthesis,Muscular Dystrophy, Animal,Mutagenesis,Organ Specificity,Phenotype,Polymorphism, Restriction Fragment Length,RNA Splicing,RNA, Messenger
                Data availability:
                ScienceOpen disciplines: Chemistry
                Keywords: Animals, Base Sequence, Cloning, Molecular, DNA Mutational Analysis, Dystrophin, genetics, Exons, Female, Gene Expression Regulation, Male, Mice, Mice, Inbred C57BL, Mice, Mutant Strains, Molecular Sequence Data, Muscle Proteins, biosynthesis, Muscular Dystrophy, Animal, Mutagenesis, Organ Specificity, Phenotype, Polymorphism, Restriction Fragment Length, RNA Splicing, RNA, Messenger

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