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Science 30 June 1989:
Vol. 244. no. 4912, pp. 1578 - 1580
DOI: 10.1126/science.2662404

Articles

Science, Vol 244, Issue 4912, 1578-1580
Copyright © 1989 by American Association for the Advancement of Science


articles

The molecular basis of muscular dystrophy in the mdx mouse: a point mutation

P Sicinski, Y Geng, AS Ryder-Cook, EA Barnard, MG Darlison, and PJ Barnard

Medical Research Unit, MRC Centre, Cambridge, United Kingdom.

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.


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Muscle regeneration in the prolonged absence of myostatin.
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Myostatin Mutation Associated with Gross Muscle Hypertrophy in a Child.
M. Schuelke, K. R. Wagner, L. E. Stolz, C. Hubner, T. Riebel, W. Komen, T. Braun, J. F. Tobin, and S.-J. Lee (2004)
N. Engl. J. Med. 350, 2682-2688
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Cloning of cDNA Encoding a Regeneration-Associated Muscle Protease Whose Expression Is Attenuated in Cell Lines Derived from Duchenne Muscular Dystrophy Patients.
Y. Nakayama, N. Nara, Y. Kawakita, Y. Takeshima, M. Arakawa, M. Katoh, S. Morita, K. Iwatsuki, K. Tanaka, S. Okamoto, et al. (2004)
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   Abstract »    Full Text »    PDF »
The Dystrophin Glycoprotein Complex: Signaling Strength and Integrity for the Sarcolemma.
K. A. Lapidos, R. Kakkar, and E. M. McNally (2004)
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   Abstract »    Full Text »    PDF »
Role of bone marrow cell trafficking in replenishing skeletal muscle SP and MP cell populations.
F. Rivier, O. Alkan, A. F. Flint, K. Muskiewicz, P. D. Allen, P. Leboulch, and E. Gussoni (2004)
J. Cell Sci. 117, 1979-1988
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ZZ domain is essentially required for the physiological binding of dystrophin and utrophin to {beta}-dystroglycan.
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   Abstract »    Full Text »    PDF »
Systemic delivery of human microdystrophin to regenerating mouse dystrophic muscle by muscle progenitor cells.
E. Bachrach, S. Li, A. L. Perez, J. Schienda, K. Liadaki, J. Volinski, A. Flint, J. Chamberlain, and L. M. Kunkel (2004)
PNAS 101, 3581-3586
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Cellular and Molecular Regulation of Muscle Regeneration.
S. B. P. CHARGE and M. A. RUDNICKI (2004)
Physiol Rev 84, 209-238
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Dystrophin is required for the formation of stable muscle attachments in the zebrafish embryo.
D. I. Bassett, R. J. Bryson-Richardson, D. F. Daggett, P. Gautier, D. G. Keenan, and P. D. Currie (2003)
Development 130, 5851-5860
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Negamycin Restores Dystrophin Expression in Skeletal and Cardiac Muscles of mdx Mice.
M. Arakawa, M. Shiozuka, Y. Nakayama, T. Hara, M. Hamada, S.'i. Kondo, D. Ikeda, Y. Takahashi, R. Sawa, Y. Nonomura, et al. (2003)
J. Biochem. 134, 751-758
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Proteasome Inhibitor (MG-132) Treatment of mdx Mice Rescues the Expression and Membrane Localization of Dystrophin and Dystrophin-Associated Proteins.
G. Bonuccelli, F. Sotgia, W. Schubert, D. S. Park, P. G. Frank, S. E. Woodman, L. Insabato, M. Cammer, C. Minetti, and M. P. Lisanti (2003)
Am. J. Pathol. 163, 1663-1675
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Depolarization-induced contraction and SR function in mechanically skinned muscle fibers from dystrophic mdx mice.
D. R. Plant and G. S. Lynch (2003)
Am J Physiol Cell Physiol 285, C522-C528
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Skeletal muscle engraftment potential of adult mouse skin side population cells.
F. Montanaro, K. Liadaki, J. Volinski, A. Flint, and L. M. Kunkel (2003)
PNAS 100, 9336-9341
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Skeletal muscle repair by adult human mesenchymal stem cells from synovial membrane.
C. De Bari, F. Dell'Accio, F. Vandenabeele, J. R. Vermeesch, J.-M. Raymackers, and F. P. Luyten (2003)
J. Cell Biol. 160, 909-918
   Abstract »    Full Text »    PDF »
Defective integrin switch and matrix composition at alpha 7-deficient myotendinous junctions precede the onset of muscular dystrophy in mice.
R. Nawrotzki, M. Willem, N. Miosge, H. Brinkmeier, and U. Mayer (2003)
Hum. Mol. Genet. 12, 483-495
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Mechanical stress activates the nuclear factor-kappaB pathway in skeletal muscle fibers: a possible role in Duchenne muscular dystrophy.
A. KUMAR and A. M. BORIEK (2003)
FASEB J 17, 386-396
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Functional correction of adult mdx mouse muscle using gutted adenoviral vectors expressing full-length dystrophin.
C. DelloRusso, J. M. Scott, D. Hartigan-O'Connor, G. Salvatori, C. Barjot, A. S. Robinson, R. W. Crawford, S. V. Brooks, and J. S. Chamberlain (2002)
PNAS 99, 12979-12984
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{zeta}-Sarcoglycan, a novel component of the sarcoglycan complex, is reduced in muscular dystrophy.
M. T. Wheeler, S. Zarnegar, and E. M. McNally (2002)
Hum. Mol. Genet. 11, 2147-2154
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Global/temporal gene expression in diaphragm and hindlimb muscles of dystrophin-deficient (mdx) mice.
K. Rouger, M. Le Cunff, M. Steenman, M.-C. Potier, N. Gibelin, C. A. Dechesne, and J. J. Leger (2002)
Am J Physiol Cell Physiol 283, C773-C784
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Functional characteristics of dystrophic skeletal muscle: insights from animal models.
J. F. Watchko, T. L. O'Day, and E. P. Hoffman (2002)
J Appl Physiol 93, 407-417
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Long-term study of Ca2+ homeostasis and of survival in collagenase-isolated muscle fibres from normal and mdx mice.
F De Backer, C Vandebrouck, P Gailly, and J M Gillis (2002)
J. Physiol. 542, 855-865
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Green tea extract decreases muscle necrosis in mdx mice and protects against reactive oxygen species.
T. M Buetler, M. Renard, E. A Offord, H. Schneider, and U. T Ruegg (2002)
Am. J. Clinical Nutrition 75, 749-753
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Function and Genetics of Dystrophin and Dystrophin-Related Proteins in Muscle.
D. J. Blake, A. Weir, S. E. Newey, and K. E. Davies (2002)
Physiol Rev 82, 291-329
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Muscle-specific expression of insulin-like growth factor I counters muscle decline in mdx mice.
E. R. Barton, L. Morris, A. Musaro, N. Rosenthal, and H. L. Sweeney (2002)
J. Cell Biol. 157, 137-148
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The Sarcoglycan Complex in Striated and Vascular Smooth Muscle.
M.T. WHEELER, M.J. ALLIKIAN, A. HEYDEMANN, and E.M. MCNALLY (2002)
Cold Spring Harb Symp Quant Biol 67, 389-398
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Insulin-like Growth Factor Isoforms in Skeletal Muscle Aging, Regeneration, and Disease.
N. WINN, A. PAUL, A. MUSARO, and N. ROSENTHAL (2002)
Cold Spring Harb Symp Quant Biol 67, 507-518
   Abstract »    PDF »
Suppression of revertant fibers in mdx mice by expression of a functional dystrophin.
G. E. Crawford, Q. L. Lu, T. A. Partridge, and J. S. Chamberlain (2001)
Hum. Mol. Genet. 10, 2745-2750
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Systemic Administration of Naked DNA: Gene Transfer to Skeletal Muscle.
F. Liu, K. W. Liang, and L. Huang (2001)
Mol. Interv. 1, 168-172
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Dystrophin-deficient myocardium is vulnerable to pressure overload in vivo.
Y. Kamogawa, S. Biro, M. Maeda, M. Setoguchi, T. Hirakawa, H. Yoshida, and C. Tei (2001)
Cardiovasc Res 50, 509-515
   Abstract »    Full Text »    PDF »
Enhanced Expression of the {alpha}7{beta}1 Integrin Reduces Muscular Dystrophy and Restores Viability in Dystrophic Mice.
D. J. Burkin, G. Q. Wallace, K. J. Nicol, D. J. Kaufman, and S. J. Kaufman (2001)
J. Cell Biol. 152, 1207-1218
   Abstract »    Full Text »    PDF »
Intraarterial Injection of Muscle-Derived Cd34+Sca-1+ Stem Cells Restores Dystrophin in mdx Mice.
Y. Torrente, J.-P Tremblay, F. Pisati, M. Belicchi, B. Rossi, M. Sironi, F. Fortunato, M. El Fahime, M. G. D'Angelo, N. J. Caron, et al. (2001)
J. Cell Biol. 152, 335-348
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Animal models for muscular dystrophy: valuable tools for the development of therapies.
V. Allamand and K. P. Campbell (2000)
Hum. Mol. Genet. 9, 2459-2467
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Contraction-induced injury to single permeabilized muscle fibers from mdx, transgenic mdx, and control mice.
G. S. Lynch, J. A. Rafael, J. S. Chamberlain, and J. A. Faulkner (2000)
Am J Physiol Cell Physiol 279, C1290-C1294
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Loss of Dp140 dystrophin isoform and intellectual impairment in Duchenne dystrophy.
G. Felisari, F. M. Boneschi, A. Bardoni, M. Sironi, G. P. Comi, M. Robotti, A. C. Turconi, M. Lai, G. Corrao, and N. Bresolin (2000)
Neurology 55, 559-564
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Transplacental injection of somite-derived cells in mdx mouse embryos for the correction of dystrophin deficiency.
Y. Torrente, M.G. D'Angelo, Z. Li, R. Del Bo, S. Corti, M. Mericskay, A. DeLiso, A. Fassati, D. Paulin, G.P. Comi, et al. (2000)
Hum. Mol. Genet. 9, 1843-1852
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Severe Mechanical Dysfunction in Pharyngeal Muscle from Adult mdx Mice.
P. ATTAL, F. LAMBERT, S. MARCHAND-ADAM, S. BOBIN, J.-C. POURNY, D. CHEMLA, Y. LECARPENTIER, and C. COIRAULT (2000)
Am. J. Respir. Crit. Care Med. 162, 278-281
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Distinct Patterns of Dystrophin Organization in Myocyte Sarcolemma and Transverse Tubules of Normal and Diseased Human Myocardium.
R. R. Kaprielian, S. Stevenson, S. M. Rothery, M. J. Cullen, and N. J. Severs (2000)
Circulation 101, 2586-2594
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Dystrophin and utrophin influence fiber type composition and post-synaptic membrane structure.
J. A. Rafael, E. R. Townsend, S. E. Squire, A. C. Potter, J. S. Chamberlain, and K. E. Davies (2000)
Hum. Mol. Genet. 9, 1357-1367
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Rescue of dystrophin expression in mdx mouse muscle by RNA/DNA oligonucleotides.
T. A. Rando, M.-H. Disatnik, and L. Z.-H. Zhou (2000)
PNAS 97, 5363-5368
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Massive Idiosyncratic Exon Skipping Corrects the Nonsense Mutation in Dystrophic Mouse Muscle and Produces Functional Revertant Fibers by Clonal Expansion.
Q.L. Lu, G.E. Morris, S.D. Wilton, T. Ly, O.V. Artem'yeva, P. Strong, and T.A. Partridge (2000)
J. Cell Biol. 148, 985-996
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Myoferlin, a candidate gene and potential modifier of muscular dystrophy.
D. B. Davis, A. J. Delmonte, C. T. Ly, and E. M. McNally (2000)
Hum. Mol. Genet. 9, 217-226
   Abstract »    Full Text »    PDF »
Muscle degeneration without mechanical injury in sarcoglycan deficiency.
A. A. Hack, L. Cordier, D. I. Shoturma, M. Y. Lam, H. L. Sweeney, and E. M. McNally (1999)
PNAS 96, 10723-10728
   Abstract »    Full Text »    PDF »
The Vitamin D Receptor and the Syndrome of Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets.
P. J. Malloy, J. W. Pike, and D. Feldman (1999)
Endocr. Rev. 20, 156-188
   Abstract »    Full Text »
Hindlimb immobilization applied to 21-day-old mdx mice prevents the occurrence of muscle degeneration.
A. Mokhtarian, J. P. Lefaucheur, P. C. Even, and A. Sebille (1999)
J Appl Physiol 86, 924-931
   Abstract »    Full Text »    PDF »
Severe cardiomyopathy in mice lacking dystrophin and MyoD.
L. A. Megeney, B. Kablar, R. L. S. Perry, C. Ying, L. May, and M. A. Rudnicki (1999)
PNAS 96, 220-225
   Abstract »    Full Text »    PDF »
Development of Approaches to Improve Cell Survival in Myoblast Transfer Therapy.
Z. Qu, L. Balkir, J. C.T. van Deutekom, P. D. Robbins, R. Pruchnic, and J. Huard (1998)
J. Cell Biol. 142, 1257-1267
   Abstract »    Full Text »    PDF »
{gamma}-Sarcoglycan Deficiency Leads to Muscle Membrane Defects and Apoptosis Independent of Dystrophin.
A. A. Hack, C. T. Ly, F. Jiang, C. J. Clendenin, K. S. Sigrist, R. L. Wollmann, and E. M. McNally (1998)
J. Cell Biol. 142, 1279-1287
   Abstract »    Full Text »    PDF »
Contractile function and low-intensity exercise effects of old dystrophic (mdx) mice.
A. Hayes and D. A. Williams (1998)
Am J Physiol Cell Physiol 274, C1138-C1144
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{beta}-Spectrin Is Colocalized with Both Voltage-gated Sodium Channels and AnkyrinG at the Adult Rat Neuromuscular Junction.
S.J. Wood and C.R. Slater (1998)
J. Cell Biol. 140, 675-684
   Abstract »    Full Text »    PDF »
Acetylcholine Receptors in Innervated Muscles of Dystrophic mdx Mice Degrade as after Denervation.
R. Xu and M. M. Salpeter (1997)
J. Neurosci. 17, 8194-8200
   Abstract »    Full Text »    PDF »
Postsynaptic Abnormalities at the Neuromuscular Junctions of Utrophin-deficient Mice.
A. E. Deconinck, A. C. Potter, J. M. Tinsley, S. J. Wood, R. Vater, C. Young, L. Metzinger, A. Vincent, C. R. Slater, and K. E. Davies (1997)
J. Cell Biol. 136, 883-894
   Abstract »    Full Text »    PDF »



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