Altered mRNA splicing of dystrophin in type 1 myotonic dystrophy

Muscle and Nerve

Volumn 36, Issue 2, 2007, Pages 251-257

  Nakamori, Masayuki ^a   Kimura, Takashi ^b   Fujimura, Harutoshi ^c   Takahashi, Masanori P ^a   Sakoda, Saburo ^a  

^a OSAKA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b HYOGO COLLEGE OF MEDICINE   (Japan)

^c TONEYAMA NATIONAL HOSPITAL   (Japan)

Author keywords

Cardiac muscle; Dystrophin; Myotonic dystrophy; Skeletal muscle; Splicing

Indexed keywords

CYTOSKELETON PROTEIN; DYSTROPHIN; ISOPROTEIN; MESSENGER RNA;

ADOLESCENT; ADULT; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DMPK GENE; EXON; FEMALE; GENE; HEART MUSCLE; HUMAN; HUMAN TISSUE; HYDROPHOBICITY; INSULIN RESISTANCE; MALE; MUSCLE ATROPHY; MYOTONIA; MYOTONIC DYSTROPHY; MYOTONIC DYSTROPHY TYPE 1; PRIORITY JOURNAL; PROTEIN BINDING; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; SARCOLEMMA; SIGNAL TRANSDUCTION; SKELETAL MUSCLE; SYMPTOMATOLOGY; SYSTEMIC DISEASE;

ADULT; ALTERNATIVE SPLICING; DYSTROPHIN; EXONS; FEMALE; HUMANS; MALE; MIDDLE AGED; MUSCLE, SKELETAL; MYOTONIC DYSTROPHY;

EID: 34547659800     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.20809     Document Type: Article

References (26)

1. Ahn AH, Kunkel LM. The structural and functional diversity of dystrophin. Nat Genet 1993;3:283-291.
2. Bies RD, Phelps SF, Cortez MD, Roberts R, Caskey CT, Chamberlain JS. Human and murine dystrophin mRNA transcripts are differentially expressed during skeletal muscle, heart, and brain development. Nucleic Acids Res 1992;20:1725-1731.
3. 2+ ATPase genes: homologies and mechanistic implications of deduced amino acid sequences. Cell 1986;44:597-607.
4. Charlet BN, Savkur RS, Singh G, Philips AV, Grice EA, Cooper TA. Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing. Mol Cell 2002;10:45-53.
5. Chevron MP, Girard F, Claustres M, Demaille J. Expression and subcellular localization of dystrophin in skeletal, cardiac and smooth muscles during the human development. Neuromuscul Disord 1994;4:419-432.
6. Feener CA, Koenig M, Kunkel LM. Alternative splicing of human dystrophin mRNA generates isoforms at the carboxy terminus. Nature 1989;338:509-511.
7. Harper PS. Myotonic dystrophy. Philadelphia: WB Saunders; 2001. p 17-46, 307-390.
8. Hino S, Sekiya H, Kondo S, Nakamori M, Takahashi MP, Imaizumi K. Molecular mechanisms responsible for aberrant splicing of SERCA1 in myotonic dystrophy type 1. Bull Jpn Soc Neurochem 2006;45:421.
9. Ho TH, Charlet BN, Poulos MG, Singh G, Swanson MS, Cooper TA. Muscleblind proteins regulate alternative splicing. EMBO J 2004;23:3103-3112.
10. Kanadia RN, Johnstone KA, Mankodi A, Lungu C, Thornton CA, Esson D, et al. A muscleblind knockout model for myotonic dystrophy. Science 2003;302:1978-1980.
11. Kanadia RN, Shin J, Yuan Y, Beattie SG, Wheeler TM, Thornton CA, et al. Reversal of RNA missplicing and myotonia after muscleblind overexpression in a mouse poly(CUG) model for myotonic dystrophy. Proc Natl Acad Sci U S A 2006;103: 11748-11753.
12. Kimura T, Takahashi MP, Okuda Y, Kaido M, Fujimura H, Yanagihara T, et al. The expression of ion channel mRNAs in skeletal muscles from patients with myotonic muscular dystrophy. Neurosci Lett 2000;295:93-96.
13. 2+-ATPase in myotonic dystrophy type 1. Hum Mol Genet 2005;14:2189-2200.
14. Lin X, Miller JW, Mankodi A, Kanadia RN, Yuan Y, Moxley RT, et al. Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy. Hum Mol Genet 2006;15: 2087-2097.
15. 2+-ATPases. J Biol Chem 1997;272:28815-28818.
16. Mankodi A, Takahashi MP, Jiang H, Beck CL, Bowers WJ, Moxley RT, et al. Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy. Mol Cell 2002;10:35-44.
17. Mankodi A, Lin X, Blaxall BC, Swanson MS, Thornton CA. Nuclear RNA foci in the heart in myotonic dystrophy. Circ Res 2005;97:1152-1155.
18. Mathieu J, De Braekeleer M, Prevost C, Boily C. Myotonic dystrophy: clinical assessment of muscular disability in an isolated population with presumed homogeneous mutation. Neurology 1992;42:203-208.
19. Osborne RJ, Thornton CA. RNA-dominant diseases. Hum Mol Genet 2006;15(Suppl 2):R162-169.
20. Patria SY, Alimsardjono H, Nishio H, Takeshima Y, Nakamura H, Matsuo M. A case of Becker muscular dystrophy resulting from the skipping of four contiguous exons (71-74) of the dystrophin gene during mRNA maturation. Proc Assoc Am Physicians 1996;108:308-314.
21. Philips AV, Timchenko LT, Cooper TA. Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy. Science 1998;280:737-741.
22. Roberts RG, Coffey AJ, Bobrow M, Bentley DR. Determination of the exon structure of the distal portion of the dystrophin gene by vectorette PCR. Genomics 1992;13:942-950.
23. Savkur RS, Philips AV, Cooper TA. Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy. Nat Genet 2001;29:40-47.
24. Suzuki A, Yoshida M, Ozawa E. Mammalian alpha 1- and beta 1-syntrophin bind to the alternative splice-prone region of the dystrophin COOH terminus. J Cell Biol 1995;128:373-381.
25. Uchino M, Araki S, Miike T, Teramoto H, Nakamura T, Yasutake T. Localization and characterization of dystrophin in muscle biopsy specimens from Duchenne muscular dystrophy and various neuromuscular disorders. Muscle Nerve 1989;12:1009-1016.
26. Udd B, Meola G, Krahe R, Thornton C, Ranum L, Day J, et al. Report of the 115th ENMC workshop: DM2/PROMM and other myotonic dystrophies. 3rd Workshop, 14-16 February 2003, Naarden, The Netherlands. Neuromuscul Disord 2003; 13:589-596.