PCR analysis of muscular dystrophy in mdx mice (original) (raw)

References

• Anderson, J.E., Bressler, B.H. and Ovalle, W.K. (1988) Functional regeneration in the hindlimb skeletal muscle of the mdx mouse. J. Muscle Res. Cell Motil., 9, 499–515.
  Article PubMed CAS Google Scholar
• Bar, S., Barnea, E., Levy, Z. et al. (1990) A novel product of the Duchenne muscular dystrophy gene which greatly differs from the known isoforms in its structure and tissue distribution. Biochem. J., 272, 557–60.
  PubMed CAS Google Scholar
• Bies, R.D., Phelps, S.F., Cortez, M.D. et al. (1992) Human and murine dystrophin mRNA transcripts are differentially expressed during skeletal muscle, heart, and brain development. Nucleic Acids Res., 7, 1725–31.
  Article Google Scholar
• Bridges, L.R. (1986) The association of cardiac muscle necrosis and inflammation with the degenerative and persistent myopathy of MDX mice. J. Neurol. Sci., 72, 147–57.
  Article PubMed CAS Google Scholar
• Bulfield, G., Siller, W.G., Wight, P.A. and Moore, K.J. (1984) X chromosome-linked muscular dystrophy (mdx) in the mouse. Proc. Natl. Acad. Sci. U.S.A., 81, 1189–92.
  Article PubMed CAS Google Scholar
• Chamberlain, J.S., Pearlman, J.A., Muzny, D.M. et al. (1988) Expression of the murine Duchenne muscular dystrophy gene in muscle and brain. Science, 239, 1416–8.
  Article PubMed CAS Google Scholar
• Chamberlain, J.S., Ranier, J.E., Pearlman, J.A. et al. (1989) Analysis of Duchenne muscular dystrophy mutations in mice and humans, in Cellular and Molecular Biology of Muscle Development, UCLA Symposia on Molecular and Cellular Biology, New Series Vol. 93, (eds F. Stockdale, Stockdale, F. and L. Kedes), pp. 951–62.
  Google Scholar
• Chamberlain, J.S., Farwell, N.J., Ranier, J.E. et al. (1991a) PCR analysis of dystrophin gene mutation and expression. J. Cell. Biol., 46, 334–6.
  Google Scholar
• Chamberlain, J.S., Pearlman, J.A., Muzny, D.M. et al. (1991b) Mouse dystrophin cDNA Sequence, Genbank accession No. M68859. (Unpublished).
  Google Scholar
• Chapman, V.M., Miller, D.M., Armstrong, D. and Caskey, C.T. (1989) Recovery of induced mutations for X chromosome-linked muscular dystrophy in mice. Proc. Natl. Acad. Sci. U.S.A., 96, 1292–6.
  Article Google Scholar
• Chelly, J., Gilgenkrantz, H., Lambert, M. et al. (1990) Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies. Cell, 63, 1239–48.
  Article PubMed CAS Google Scholar
• Clemens, P.R., Fenwick, R.G., Chamberlain, J.S. et al. (1991) Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms. Am. J. Hum. Genet., 49, 951–60.
  PubMed CAS Google Scholar
• Cotton, R.G.H., Rodrigues, N.R. and Campbell, R.D. (1988) Reactivity of cytosine and thymine in single-base pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations. Proc. Natl. Acad. Sci. U.S.A., 85, 4397–401.
  Article PubMed CAS Google Scholar
• den Dunnen, J.T., Grootscholten, P.M., Blonden, L.A. et al. (1989) Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications. Am. J. Hum. Genet., 45, 835–47.
  Google Scholar
• Feener, CA., Koenig, M. and Kunkel, L.M. (1989) Alternative splicing of human dystrophin mRNA generates isoforms at the carboxy terminus. Nature, 338, 509–11.
  Article PubMed CAS Google Scholar
• Gibbs, R.A., Chamberlain, J.S. and Caskey, C.T. (1989) Diagnosis of new mutation diseases using the polymerase chain reaction, in PCR Technology: Principles and Applications of DNA Amplification, (ed H.A. Erlich) Stockton Press, New York, pp. 171–91.
  Google Scholar
• Hoffman, E.P., Brown, R.H., Jr. and Kunkel, L.M. (1987a) Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell, 51, 919–28.
  Article PubMed CAS Google Scholar
• Hoffman, E.P., Monaco, A.P., Feener, C.C. and Kunkel, L.M. (1987b) Conservation of the Duchenne muscular dystrophy gene in mice and humans. Science, 238, 347–50.
  Article PubMed CAS Google Scholar
• Hoffman, E.P., Fischbeck, K.H., Brown, R.H. et al. (1988) Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne’s or Becker’s muscular dystrophy. N. Engl. J. Med., 318, 1363–8.
  Article PubMed CAS Google Scholar
• Hoffman, E.P., Morgan, J.E., Watkins, S.C. and Partridge, T.A. (1990) Somatic reversion/suppression of the mouse mdx phenotype in vivo. J. Neurol. Sci., 99, 9–25.
  Article PubMed CAS Google Scholar
• Hoffman, E.P., Garcia, C.A., Chamberlain, J.S. et al. (1991) Is the carboxyl-terminus of dystrophin required for membrane association? A novel, severe case of Duchenne muscular dystrophy. Ann. Neurol., 30, 605–10.
  Article PubMed CAS Google Scholar
• Hoffman, E.P. (1992) The animal models of Duchenne muscular dystrophy: Windows on the pathophysiological consequences of dystrophin deficiency, in Ordering the Membrane-cytoskeleton Trilayer, (eds M. Mooseker and J. Morrow), Academic Press, New York, in press.
  Google Scholar
• Keller, E.R. and Emerson, C.P. (1980) Synthesis of adult myosin light chains by embryonic muscle cultures. Proc. Natl. Acad. Sci. U.S.A., 77, 1020–4.
  Article PubMed CAS Google Scholar
• Koenig, M., Monaco, A.P. and Kunkel, L.M. (1988) The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. Cell, 53, 219–26.
  Article PubMed CAS Google Scholar
• Koenig, M., Beggs, A.H., Moyer, M. et al. (1989) The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. Am. J. Hum. Genet., 45, 498–506.
  PubMed CAS Google Scholar
• Koenig, M. and Kunkel, L.M. (1990) Detailed analysis of the repeat domain of dystrophin reveals four potential hinge segments that may confer flexibility. J. Biol. Chem., 265, 4560–6.
  PubMed CAS Google Scholar
• Lee, C.C., Pearlman, J.A., Chamberlain, J.S. and Caskey, C.T. (1991) Expression of recombinant dystrophin and its localization to the cell membrane. Nature, 349, 334–6.
  Article PubMed CAS Google Scholar
• Lemaire, C., Heilig, R. and Mandel, J.L. (1988) The chicken dystrophin cDNA: striking conservation of the C-terminal coding and 3′ untranslated regions between man and chicken. EMBO J., 7, 4157–62.
  PubMed CAS Google Scholar
• Maichele, A.J. and Chamberlain, J.S. (1992) Cross-species conservation of a polymorphic dinucleotide repeat in the dystrophin gene. Mammalian Genome, 3, 290–2.
  Article PubMed CAS Google Scholar
• Moser, H. (1984) Review of studies on the proportion and origin of new mutants in Duchenne muscular dystrophy, in Current Clinical Practices, Series 20, (eds L.P. Ten Tate, P.L. Pearson and A.M. Stadhouders) Excerpta Medica, Amsterdam, pp. 41–52.
  Google Scholar
• Nudel, U., Zuk, D., Einet, P. et al.(1988) Duchenne muscular dystrophy gene product is not identical in muscle and brain. Nature, 337, 76–8.
  Article Google Scholar
• Ochman, H., Medhora, M.M., Garza, D. and Hartl, D.L. (1990) Amplification of flanking sequences by inverse PCR, in PCR Protocols. A Guide to Methods and Applications, (eds M.A. Innis, D.H. Gelfand, J.T. Sninsky and T.J. White), Academic Press, San Diego, pp. 219–27.
  Google Scholar
• Scott, M.O., Sylvester, J.E., Heiman-Patterson, T. et al. (1988) Duchenne muscular dystrophy gene expression in normal and diseased human muscle. Science, 239, 1418–20.
  Article PubMed CAS Google Scholar
• Sicinski, P., Geng, Y., Ryder-Cook, A.S. et al. (1989) The molecular basis of muscular dystrophy in the mdx mouse: a point mutation. Science, 244, 1578–80.
  Article PubMed CAS Google Scholar
• Weber, J.L. and May, P.E. (1989) Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am. J. Hum. Genet., 44, 388–96.
  PubMed CAS Google Scholar

Download references