Molecular and Functional Analysis of the Muscle-Specific Promoter Region of the Duchenne Muscular Dystrophy Gene

Literature Cited

• Anand, R., J., Honeycombe, P. A., Whittaker, J. K., Elder, and E. M. Southern 1988. Clones from an 840-kb fragment contain ing the 5′ region of the DMD locus enriched by pulsed field gel electrophoresis. Genomics 3: 177-186.
   PubMedGoogle Scholar
• Arahata, K., S., Ishiura, T., Ishiguro, T., Tsukahara, Y., Suhara, C., Eguchi, T., Ishihara, I., Nonaka, E., Ozawa, and H. Sugita 1988. Immunostaining of skeletal and cardiac muscle cell sur face membrane with antibody against Duchenne muscular dys trophy peptide. Nature (London) 333: 861-863.
   PubMedGoogle Scholar
• Arnold, H. H., E., Tannich, and B. M. Paterson 1988. The promoter of the chicken cardiac myosin light chain 2 gene shows cell-specific expression in transfected primary cultures of chicken muscle. Nucleic Acids Res. 16: 2411-2429.
   PubMedGoogle Scholar
• Blau, H. M., G. K., Pavlath, E. C., Hardemann, C. P., Chiu, L., Silberstein, S. G., Webster, S. C., Miller, and C. Webster 1985. Plasticity of the differentiated state. Science 230: 758-766.
   PubMed Web of Science ®Google Scholar
• Bonilla, E., C. E., Samitt, A. F., Miranda, A. P., Hays, G., Salviati, S., DiMauro, L. M., Knnkel, E. P., Hoffman, and L. P. Rowland 1988. Duchenne muscular dystrophy: deficiency of dystrophin at the muscle cell surface. Cell 54: 447-452.
   PubMed Web of Science ®Google Scholar
• Bouvagnet, P. F., E. E., Strehler, G. E., White, M. A., Strehler- Page, B., Nadal-Ginard, and V. Mahdavi 1987. Multiple positive and negative 5′ regulatory elements control the cell-type-specif ic expression of the embryonic skeletal myosin heavy-chain gene. Mol. Cell. Biol. 7: 4377-4389.
   PubMedGoogle Scholar
• Breathnach, R., and P. Chambon 1981. Organization and expression of eukaryotic split genes coding for protein. Annu. Rev. Biochem. 50: 349-383.
   PubMed Web of Science ®Google Scholar
• Briggs, M. R., J. T., Kadonaga, S. P., Bell, and R. Tyan 1986. Purification and biochemical characterization of the promoter- specific transcription factor, Spl. Science 234: 47-52.
   PubMed Web of Science ®Google Scholar
• Burghes, A. H. M., C., Logan, X., Hu, B., Belfall, R. G., Worton, and P. N. Ray 1987. A cDNA clone from the Duchenne/Becker muscular dystrophy gene. Nature (London) 328: 434-437.
   PubMed Web of Science ®Google Scholar
• Burmeister, M., A. P., Monaco, E. F., Gillard, G. B., van Ommen, N. A., Affara, M. A., Ferguson-Smith, L. M., Kunkel, and H. Lehrach 1988. A 10-megabase physical map of human Xp21, including the Duchenne muscular dystrophy locus. Genomics 2: 189-202.
   PubMedGoogle Scholar
• Buskin, J. N., and S. D. Hauschka 1989. Identification of a myocyte nuclear factor that binds to the muscle-specific en hancer of the mouse muscle creatine kinase gene. Mol. Cell. Biol. 9: 2627-2640.
   PubMedGoogle Scholar
• Campbell, K. P., and S. D. Kahl 1989. Association of dystro phin and an integral membrane glycoprotein. Nature (London) 338: 259-262.
   PubMed Web of Science ®Google Scholar
• Carroll, S. L., D. J., Bergsma, and R. J. Schwartz 1988. A 29-nucleotide DNA segment containing an evolutionarily con served motif is required in cis for cell-type-restricted repression of the chicken α-smooth muscle actin gene core promoter. Mol. Cell. Biol. 8: 241-250.
   PubMedGoogle Scholar
• Chelly, J., J. C., Kaplan, P., Maire, S., Gautron, and A. Kahn 1988. Transcription of the dystrophin gene in human muscle and non-muscle tissues. Nature (London) 333: 858-860.
   PubMed Web of Science ®Google Scholar
• Chen, C, and H. Okayama 1987. High-efficiency transforma tion of mammalian cells by plasmid DNA. Mol. Cell. Biol. 7: 2745-2752.
   PubMed Web of Science ®Google Scholar
• Cross, S. H., and P. F. R. Little 1986. A cosmid vector for systematic chromosome walking. Gene 49: 9-22.
   PubMedGoogle Scholar
• Daubas, P., B., Robert, I., Garner, and M. Buckingham 1985. A comparison between mammalian and avian fast skeletal muscle alkali light chain genes: regulatory implications. Nucleic Acids Res. 13: 4623-4643.
   PubMedGoogle Scholar
• Davis, R. L., H., Weintraub, and A. B. Lassar 1987. Expression of a single transfected cDNA converts fibroblasts to myoblasts. Cell 51: 987-1000.
   PubMed Web of Science ®Google Scholar
• Davison, M. D., and D. R. Critchley 1988. Alpha-actinins and the DMD protein contain spectrin-like repeats. Cell 52: 159-160.
   PubMedGoogle Scholar
• Devlin, R. B., and C. P. Emerson 1978. Coordinate regulation of contractile protein synthesis during myoblast differentiation. Cell 13: 599-611.
   PubMed Web of Science ®Google Scholar
• Feener, C. A., M., Koenig, and L. M. Kunkel 1989. Alternative splicing of human dystrophin mRNA generates isoforms at the carboxy terminus. Nature (London) 338: 509-511.
   PubMed Web of Science ®Google Scholar
• Feinberg, A. P., and B. Vogelstein 1983. A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Anal. Biochem. 132: 6-13.
   PubMed Web of Science ®Google Scholar
• Gorman, C. M., L. F., Moffat, and B. H. Howard 1982. Recombinant genomes which express chloramphenicol acetyl- transferase in mammalian cells. Mol. Cell. Biol. 2: 1044-1051.
   PubMed Web of Science ®Google Scholar
• Greene, L. A., and A. S. Tischler 1976. Establishment of a noradrenergic clonal line of rat adrenal pheochromocytoma cells which respond to nerve growth factor. Proc. Natl. Acad. Sci. USA 73: 424-428.
   Google Scholar
• Grichnik, J. M., B. A., French, and R. J. Schwartz 1988. The chicken skeletal alpha-actin gene promoter region exhibits par tial dyad symmetry and a capacity to drive bidirectional tran scription. Mol. Cell. Biol. 8: 4587-4597.
   PubMedGoogle Scholar
• Gunning, P., E., Hardeman, R., Wade, P., Ponte, W., Bains, H. M., Blau, and L. Kedes 1987. Differential patterns of transcript accumulation during human myogenesis. Mol. Cell. Biol. 7: 4100-4114.
   PubMedGoogle Scholar
• Gustafson, T. A., T., Miwa, L. M., Boxer, and L. Kedes 1988. Interaction of nuclear proteins with muscle-specific regulatory sequences of the human cardiac α-actin promoter. Mol. Cell. Biol. 8: 411-419
   Google Scholar
• Gustafson, T. A., A., Taylor, and L. Kedes 1989. DNA bending is induced by a transcription factor that interacts with the human c-FOS and alpha-actin promoters. Proc. Natl. Acad. Sci. USA 86: 2162-2166.
   PubMedGoogle Scholar
• Hammonds, R. G. 1987. Protein sequence of DMD gene is related to actin-binding domain of alpha-actinin. Cell 51: 1.
   PubMedGoogle Scholar
• Hoffman, E. P., M. S., Hudecki, P. A., Rosenberg, C. M., Pollina, and L. M. Kunkel 1988. Cell and fiber type distribution of dystrophin. Neuron 1: 411-420.
   PubMed Web of Science ®Google Scholar
• Hoffman, E. P., A. P., Monaco, C. C., Feener, and L. M. Kunkel 1987. Conservation of the Duchenne muscular dystrophy gene in mice and humans. Science 238: 347-350.
   PubMed Web of Science ®Google Scholar
• Horlick, R. A., and P. A. Benfield 1989. The upstream muscle- specific enhancer of the rat muscle creatine kinase gene is composed of multiple elements. Mol. Cell. Biol. 9: 2396-2413.
   PubMedGoogle Scholar
• Kenwrick, S., M., Patterson, A., Speer, K., Fischbeck, and K. Davies 1987. Molecular analysis of the Duchenne muscular dystrophy region using pulsed field gel electrophoresis. Cell 48: 351-357.
   PubMedGoogle Scholar
• Kimes, B. W., and B. L. Brandt 1976. Properties of a clonal muscle cell line from rat heart. Exp. Cell Res. 98: 367-381.
   PubMed Web of Science ®Google Scholar
• Koenig, M., E. P., Hoffman, C. J., Bertelson, A. P., Monaco, C., Feener, and L. M. Kunkel 1987. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 50: 509-517.
   PubMed Web of Science ®Google Scholar
• Koenig, M., A. P., Monaco, and L. M. Kunkel 1988. The complete sequence of dystrophin predicts a rod-shaped cyto- skeletal protein. Cell 53: 219-228.
   PubMed Web of Science ®Google Scholar
• Krug, M. S., and S. L. Berger 1988. First-strand cDNA synthesis primed with oligo(dT). Methods Enzymol. 152: 316-325.
   Google Scholar
• Kunkel, L. M., A. P., Monaco, W., Middlesworth, H. D., Ochs, and S. A. Latt 1985. Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion. Proc. Natl. Acad. Sci. USA 82: 4778-4782.
   PubMed Web of Science ®Google Scholar
• Law, P. K., T. G., Goodwin, and M. G. Wang 1988. Normal myoblast injections provide genetic treatment for murine dys trophy. Muscle Nerve 11: 525-533.
   PubMed Web of Science ®Google Scholar
• Lev, A. A., C. C., Feener, L. M., Kunkel, and R. H. Brown 1987. Expression of the Duchenne’s muscular dystrophy gene in cultured muscle cells. J. Biol. Chem. 262: 15817-15820.
   PubMedGoogle Scholar
• Lev, A., R., Sklar, and R. H. Brown 1989. Expression of dystrophin in human muscle in vitro, p. 1011-1019. In L. H. Kedes and F. E. Stockdale (ed.), Cellular and molecular biology of muscle development. Alan R. Liss, Inc., New York.
   Google Scholar
• Lowry, O. H., N. J., Rosebrough, A. L., Farr, and R. J. Randall 1951. Protein measurement with the Folin phenol reagent. J. Biol. Chem. 193: 265-275.
   PubMed Web of Science ®Google Scholar
• Luckow, B., and G. Schutz 1987. CAT constructions with multiple unique restriction sites for the functional analysis of eukaryotic promoters and regulatory elements. Nucleic Acids Res. 15: 5490.
   PubMed Web of Science ®Google Scholar
• MacDonald, R. J., G. H., Swift, A. E., Przybyla, and J. M. Chirgwin 1988. Isolation of RNA using guanidinium salts. Methods Enzymol. 152: 219-227.
   Google Scholar
• Malhotra, S. B., K. A., Hart, H. J., Klamut, N. S. T., Thomas, S. E., Bodrug, A. H. M., Burghes, M., Bobrow, P. S., Harper, M. W., Thompson, P. N., Ray, and R. G. Worton 1988. Frame- shift deletions in patients with Duchenne and Becker muscular dystrophy. Science 242: 755-759.
   PubMed Web of Science ®Google Scholar
• Maniatis, T., E. F., Fritsch, and J. Sambrook 1982. Molecular cloning: a laboratory manual. Cold Spring Harbor Laboratory, Cold Spring Harbor, N.Y.
   Google Scholar
• Mar, J. H., P. B., Antin, T. A., Cooper, and C. P. Ordahl 1988. Analysis of the upstream regions governing expression of the chicken cardiac troponin T gene in embryonic cardiac and skeletal muscle cells. J. Cell Biol. 107: 573-585.
   PubMedGoogle Scholar
• Mar, J. H., and C. P. Ordahl 1988. A conserved CATTCCT motif is required for skeletal muscle-specific activity of the cardiac troponin T gene promoter. Proc. Natl. Acad. Sci. USA 85: 6404-6408.
   PubMedGoogle Scholar
• Minty, A., and L. Kedes 1986. Upstream regions of the human cardiac actin gene that modulate its transcription in muscle cells: presence of an evolutionarily conserved repeated motif. Mol. Cell. Biol. 6: 2125-2136.
   PubMed Web of Science ®Google Scholar
• Miwa, T., L. M., Boxer, and L. Kedes 1987. CArG boxes in the human cardiac alpha-actin gene are core binding sites for positive trans-acting regulatory factors. Proc. Natl. Acad. Sci. USA 84: 6702-6706.
   PubMedGoogle Scholar
• Monaco, A. P., R. L., Neve, C., Colletti-Feener, C. J., Bertelson, D. M., Kurnit, and L. M. Kunkel 1986. Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene. Nature (London) 323: 646-650.
   PubMed Web of Science ®Google Scholar
• Muscat, G. E. O., T. A., Gustafson, and L. Kedes 1988. A common factor regulates skeletal and cardiac α-actin gene transcription in muscle. Mol. Cell. Biol. 8: 4120-4133.
   PubMed Web of Science ®Google Scholar
• Muscat, G. E. O., and L. Kedes 1987. Multiple 5′-flanking regions of the human α-skeletal actin gene synergistically mod ulate muscle-specific expression. Mol. Cell. Biol. 7: 4089-4099.
   PubMed Web of Science ®Google Scholar
• Myers, R. M., Z., Larin, and T. Maniatis 1985. Detection of single base substitutions by ribonuclease cleavage at mis matches in RNA:DNA duplexes. Science 230: 1242-1246.
   PubMed Web of Science ®Google Scholar
• Neumann, J. R., C. A., Morency, and K. O. Russian 1987. A novel rapid assay for chloramphenicol acetyltransferase gene expression. BioTechniques 5: 444-447.
   Web of Science ®Google Scholar
• Nudel, U., K., Robzyk, and D. Yaffe 1988. Expression of the putative Duchenne muscular dystrophy gene in differentiated myogenic cell cultures and in the brain. Nature (London) 331: 635-638.
   PubMed Web of Science ®Google Scholar
• Nudel, U., D., Zuk, P., Einat, E., Zeelon, Z., Levy, S., Neuman, and D. Yaffe 1989. Duchenne muscular dystrophy gene product is not identical in muscle and brain. Nature (London) 337: 76-78.
   PubMed Web of Science ®Google Scholar
• Oronzi Scott, M., J. E., Sylvester, T., Heiman-Patterson, Y. J., Shi, W., Fieles, H., Stedman, A., Burghes, P., Ray, R., Worton, and K. H. Fischbeck 1988. Duchenne muscular dystrophy gene expression in normal and diseased human muscle. Science 239: 1418-1420.
   PubMedGoogle Scholar
• Partridge, T. A., J. E., Morgan, G. R., Coulton, E. P., Hoffman, and L. M. Kunkel 1989. Conversion of mdx myofibres from dystrophin-negative to -positive by injection of normal myo blasts. Nature (London) 337: 176-179.
   PubMed Web of Science ®Google Scholar
• Pieper, F. R., R. L., Slobbe, F. C. S., Ramaekers, H. T., Cuypers, and H. Bloemendal 1987. Upstream regions of the hamster desmin and vimentin genes regulate expression during in vitro myogenesis. EMBO J. 6: 3611-3618.
   PubMedGoogle Scholar
• Ray, P. N., B., Belfall, C., Duff, C., Logan, V., Kean, M. W., Thompson, J. E., Sylvester, J. L., Gorski, R. D., Schmickel, and R. G. Worton 1985. Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy. Nature (London) 318: 672-675.
   PubMed Web of Science ®Google Scholar
• Saiki, R. K., D. H., Gelfand, S., Stoffel, S. J., Scharf, R., Higuchi, G. T., Horn, K. B., Mullis, and H. A. Erlich 1988. Primer- directed enzymatic amplification of DNA with a thermostabile DNA polymerase. Science 239: 487-491.
   PubMed Web of Science ®Google Scholar
• Sanger, F., S., Nicklen, and A. R. Coulson 1977. DNA sequenc ing with chain terminating inhibitors. Proc. Natl. Acad. Sci. USA 74: 5463-5467.
   PubMedGoogle Scholar
• Schwartz, R. J., J. M., Grichnik, K. L., Chow, F., DeMayo, and B. A. French 1989. Identification of cis-acting regulatory elements of the chicken skeletal alpha-actin gene promoter, p. 653-667. In L. H. Kedes and F. E. Stockdale (ed.), Cellular and molecular biology of muscle development. Alan R. Liss, Inc., New York.
   Google Scholar
• Selden, R. F., K., Burke Howie, M. E., Rowe, H. M., Goodman, and D. D. Moore 1986. Human growth hormone as a reporter gene in regulation studies employing transient gene expression. Mol. Cell. Biol. 6: 3173-3179.
   PubMed Web of Science ®Google Scholar
• Sternberg, E. A., G., Spizz, W. M., Perry, D., Visard, T., Weil, and E. N. Olson 1988. Identification of upstream and intragenic regulatory elements that confer cell-type-restricted and differ entiation-specific expression on the muscle creatine kinase gene. Mol. Cell. Biol. 8: 2896-2909.
   PubMedGoogle Scholar
• Van Ommen, G. J. B., J. M. H., Verkerk, M. H., Hofker, A. P., Monaco, L. M., Kunkel, P., Ray, R., Worton, B., Wieringa, E., Bakker, and P. L. Pearson 1986. A physical map of 4 million bp around the Duchenne muscular dystrophy gene on the human X-chromosome. Cell 47: 499-504.
   PubMedGoogle Scholar
• Walsh, K., and P. Schimmel 1988. DNA-binding site for two skeletal actin promoter factors is important for expression in muscle cells. Mol. Cell. Biol. 8: 1800-1802.
   PubMedGoogle Scholar
• Watkins, S. C, E. P., Hoffman, H. S., Slayter, and L. M. Kunkel 1988. Immunoelectron microscopic localization of dystrophin in myofibres. Nature (London) 333: 863-866.
   PubMedGoogle Scholar
• Witkowski, J. A. 1986. Tissue culture studies of muscle disor ders: part 1. Techniques, cell growth, morphology, cell surface. Muscle Nerve 9: 191-207.
   Google Scholar
• Worton, R. G., and M. W. Thompson 1988. Genetics of Duchenne muscular dystrophy. Annu. Rev. Genet. 22: 601-629.
   PubMed Web of Science ®Google Scholar
• Zubrzycka-Gaarn, E. E., D. E., Bulman, G., Karpati, A. H. M., Burghes, B., Belfall, H. J., Klamut, J., Talbot, R. S., Hodges, P. N., Ray, and R. G. Worton 1988. The Duchenne muscular dystro phy gene product is localized in sarcolemma of human skeletal muscle. Nature (London) 333: 466-469.
   PubMed Web of Science ®Google Scholar