The Mouse Dystrophin Muscle Promoter/Enhancer Drives Expression of Mini-dystrophin in Transgenic mdx Mice and Rescues the Dystrophy in These Mice

Molecular Therapy

Volumn 14, Issue 5, 2006, Pages 724-734

  Anderson, Carrie L ^a,b   De Repentigny, Yves ^a,b   Cifelli, Carlo ^b   Marshall, Philip ^a,b   Renaud, Jean Marc ^b   Worton, Ronald G ^a,b   Kothary, Rashmi ^a,b  

^a OTTAWA HOSPITAL RESEARCH INSTITUTE   (Canada)

^b UNIVERSITY OF OTTAWA   (Canada)

Author keywords

DMD; dystrophin muscle promoter; gene therapy; MCK promoter; muscular dystrophy; transgenic rescue

Indexed keywords

DYSTROPHIN; DYSTROPHIN ASSOCIATED PROTEIN COMPLEX; GLYCOPROTEIN; MUSCLE PROTEIN;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; DUCHENNE MUSCULAR DYSTROPHY; ENHANCER REGION; EXERCISE; FEMALE; GENE EXPRESSION; GENE THERAPY; MALE; MOUSE; MOUSE STRAIN; NONHUMAN; PROMOTER REGION; PROTEIN EXPRESSION; SARCOLEMMA; SKELETAL MUSCLE; TISSUE SPECIFICITY; TRANSGENE; TRANSGENIC MOUSE;

ANIMALS; DYSTROPHIN; DYSTROPHIN-ASSOCIATED PROTEINS; ENHANCER ELEMENTS (GENETICS); ENHANCER ELEMENTS, GENETIC; FEMALE; GENE EXPRESSION; GENE THERAPY; HUMANS; MALE; MICE; MICE, TRANSGENIC; MUSCLE CONTRACTION; MUSCULAR DYSTROPHY, DUCHENNE; ORGAN SPECIFICITY; PHYSICAL CONDITIONING, ANIMAL; PROMOTER REGIONS (GENETICS); PROMOTER REGIONS, GENETIC; PROTEIN BINDING;

MUS MUSCULUS;

EID: 33749325500     PISSN: 15250016     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ymthe.2006.04.013     Document Type: Article

References (34)

1. Emery A.E. Duchenne Muscular Dystrophy (1993), Oxford Univ. Press, Oxford
2. Worton R.G., Molnar M.J., Brais B., and Karpati G. The muscular dystrophies. In: Scriver C.R., Beaudet A.L., Valle D., Sly W.S., Childs B., Kinzlew K.W., and Vogelstein B. (Eds). The Metabolic and Molecular Basis of Inherited Diseases. 8th ed. (2000), McGraw-Hill, New York
3. Burghes A.H., Logan C., Hu X., Belfall B., Worton R.G., and Ray P.N. A cDNA clone from the Duchenne/Becker muscular dystrophy gene. Nature 328 (1987) 434-437
4. Koenig M., Hoffman E.P., Bertelson C.J., Monaco A.P., Feener C., and Kunkel L.M. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 50 (1987) 509-517
5. Bulfield G., Siller W.G., Wight P.A., and Moore K.J. X chromosome-linked muscular dystrophy (mdx) in the mouse. Proc. Natl. Acad. Sci. USA 81 (1984) 1189-1192
6. Sicinski P., Geng Y., Ryder-Cook A.S., Barnard E.A., Darlison M.G., and Barnard P.J. The molecular basis of muscular dystrophy in the mdx mouse: a point mutation. Science 244 (1989) 1578-1580
7. Chakkalakal J.V., Thompson J., Parks R.J., and Jasmin B.J. Molecular, cellular and pharmacological therapies for Duchenne/Becker muscular dystrophies. FASEB J. 19 (2005) 880-891
8. Dunant P., et al. Expression of dystrophin driven by the 1.35-kb MCK promoter ameliorates muscular dystrophy in fast, but not in slow muscles of transgenic mdx mice. Mol. Ther. 8 (2003) 80-89
9. Sakamoto M., et al. Micro-dystrophin cDNA ameliorates dystrophic phenotypes when introduced into mdx mice as a transgene. Biochem. Biophys. Res. Commun. 293 (2002) 1265-1272
10. Harper S.Q., et al. Modular flexibility of dystrophin: implications for gene therapy of Duchenne muscular dystrophy. Nat. Med. 8 (2002) 253-261
11. Phelps S.F., et al. Expression of full-length and truncated dystrophin mini-genes in transgenic mdx mice. Hum. Mol. Genet. 4 (1995) 1251-1258
12. Rafael J.A., Sunada Y., Cole N.M., Campbell K.P., Faulkner J.A., and Chamberlain J.S. Prevention of dystrophic pathology in mdx mice by a truncated dystrophin isoform. Hum. Mol. Genet. 3 (1994) 1725-1733
13. Matsumura K., Lee C.C., Caskey C.T., and Campbell K.P. Restoration of dystrophin-associated proteins in skeletal muscle of mdx mice transgenic for dystrophin gene. FEBS Lett. 320 (1993) 276-280
14. Lee// C.C., et al. Mdx transgenic mouse: restoration of recombinant dystrophin to the dystrophic muscle. Hum. Gene Ther. 4 (1993) 273-281
15. Cox G.A., et al. Overexpression of dystrophin in transgenic mdx mice eliminates dystrophic symptoms without toxicity. Nature 364 (1993) 725-729
16. Gregorevic P., et al. Systemic delivery of genes to striated muscles using adeno-associated viral vectors. Nat. Med. 10 (2004) 828-834
17. Liu M., Yue Y., Harper S.Q., Grange R.W., Chamberlain J.S., and Duan D. Adeno-associated virus-mediated microdystrophin expression protects young mdx muscle from contraction-induced injury. Mol. Ther. 11 (2005) 245-256
18. Cox G.A., Sunada Y., Campbell K.P., and Chamberlain J.S. Dp71 can restore the dystrophin-associated glycoprotein complex in muscle but fails to prevent dystrophy. Nat. Genet. 8 (1994) 333-339
19. Donoviel D.B., Shield M.A., Buskin J.N., Haugen H.S., Clegg C.H., and Hauschka S.D. Analysis of muscle creatine kinase gene regulatory elements in skeletal and cardiac muscles of transgenic mice. Mol. Cell. Biol. 16 (1996) 1649-1658
20. Johnson J.E., Wold B.J., and Hauschka S.D. Muscle creatine kinase sequence elements regulating skeletal and cardiac muscle expression in transgenic mice. Mol. Cell. Biol. 9 (1989) 3393-3399
21. Shield M.A., Haugen H.S., Clegg C.H., and Hauschka S.D. E-box sites and a proximal regulatory region of the muscle creatine kinase gene differentially regulate expression in diverse skeletal muscles and cardiac muscle of transgenic mice. Mol. Cell. Biol. 16 (1996) 5058-5068
22. Sadoulet-Puccio H.M., and Kunkel L.M. Dystrophin and its isoforms. Brain Pathol. 6 (1996) 25-35
23. Hoffman E.P., Brown Jr. R.H., and Kunkel L.M. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 51 (1987) 919-928
24. Koenig M., Monaco A.P., and Kunkel L.M. The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. Cell 53 (1988) 219-226
25. Boyce F.M., Beggs A.H., Feener C., and Kunkel L.M. Dystrophin is transcribed in brain from a distant upstream promoter. Proc. Natl. Acad. Sci. USA 88 (1991) 1276-1280
26. Gorecki D.C., Monaco A.P., Derry J.M., Walker A.P., Barnard E.A., and Barnard P.J. Expression of four alternative dystrophin transcripts in brain regions regulated by different promoters. Hum. Mol. Genet. 1 (1992) 505-510
27. Holder E., Maeda M., and Bies R.D. Expression and regulation of the dystrophin Purkinje promoter in human skeletal muscle, heart, and brain. Hum. Genet. 97 (1996) 232-239
28. Klamut H.J., Gangopadhyay S.B., Worton R.G., and Ray P.N. Molecular and functional analysis of the muscle-specific promoter region of the Duchenne muscular dystrophy gene. Mol. Cell. Biol. 10 (1990) 193-205
29. Klamut H.J., Bosnoyan-Collins L.O., Worton R.G., Ray P.N., and Davis H.L. Identification of a transcriptional enhancer within muscle intron 1 of the human dystrophin gene. Hum. Mol. Genet. 5 (1996) 1599-1606
30. Klamut H.J., Bosnoyan-Collins L.O., Worton R.G., and Ray P.N. A muscle-specific enhancer within intron 1 of the human dystrophin gene is functionally dependent on single MEF-1/E box and MEF-2/AT-rich sequence motifs. Nucleic Acids Res. 25 (1997) 1618-1625
31. Marshall P., Chartrand N., and Worton R.G. The mouse dystrophin enhancer is regulated by MyoD, E-box-binding factors, and by the serum response factor. J. Biol. Chem. 276 (2001) 20719-20726
32. Marshall P., et al. Mouse dystrophin enhancer preferentially targets lacZ expression in skeletal and cardiac muscle. Dev. Dyn. 224 (2002) 30-38
33. Brussee V., Tardif F., and Tremblay J.P. Muscle fibers of mdx mice are more vulnerable to exercise than those of normal mice. Neuromuscul. Disord. 7 (1997) 487-492
34. +(ATP) channel deficiency affects resting tension, not contractile force, during fatigue in skeletal muscle. Am. J. Physiol. Cell Physiol. 279 (2000) C1351-C1358