Manumycin A corrects aberrant splicing of Clcn1 in myotonic dystrophy type 1 (DM1) mice

Scientific Reports

Volumn 3, Issue , 2013, Pages

  Oana, Kosuke ^a   Oma, Yoko ^a   Suo, Satoshi ^a   Takahashi, Masanori P ^b   Nishino, Ichizo ^c   Takeda, Shin'Ichi ^c   Ishiura, Shoichi ^a  

^a UNIVERSITY OF TOKYO   (Japan)

^b OSAKA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^c NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

AMIDE; CHLORIDE CHANNEL; CLC 1 CHANNEL; CLC-1 CHANNEL; MANUMYCIN; POLYENE; PRIMER DNA;

ANIMAL; ARTICLE; DRUG EFFECT; GENETICS; MOUSE; MYOTONIC DYSTROPHY; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; RNA SPLICING;

ANIMALS; BASE SEQUENCE; CHLORIDE CHANNELS; DNA PRIMERS; MICE; MYOTONIC DYSTROPHY; POLYENES; POLYMERASE CHAIN REACTION; POLYUNSATURATED ALKAMIDES; RNA SPLICING;

EID: 84881360242     PISSN: None     EISSN: 20452322     Source Type: Journal    
DOI: 10.1038/srep02142     Document Type: Article

References (45)

1. Harper, P. S. Myotonic Dystophy, third edn. (2001).
2. Ranum, L. P. & Cooper, T. A. RNA-mediated neuromuscular disorders. Annu Rev Neurosci 29, 259-277 (2006). (Pubitemid 44476846)
3. Aslanidis, C. et al. Cloning of the essential myotonic dystrophy region and mapping of the putative defect. Nature 355, (1992).
4. Brook, J. D. et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member. Cell 69, 385 (1992).
5. Liquori, C. L. et al. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science 293, 864-867 (2001). (Pubitemid 32743976)
6. Machuca-Tzili, L., Brook, D. & Hilton-Jones, D. Clinical andmolecular aspects of the myotonic dystrophies: a review. Muscle Nerve 32, 1-18 (2005). (Pubitemid 40917885)
7. Mankodi, A. 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 10, 35-44 (2002). (Pubitemid 34879147)
8. Taneja, K. L., McCurrach, M., Schalling, M., Housman, D. & Singer, R. H. Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues. J Cell Biol 128, 995-1002 (1995).
9. Fardaei, M. et al. Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts inDM1andDM2cells.HumMol Genet 11, 805-814 (2002). (Pubitemid 34428648)
10. Kino, Y. et al. Muscleblind protein, MBNL1/EXP, binds specifically to CHHG repeats. Hum Mol Genet 13, 495-507 (2004). (Pubitemid 38313209)
11. Miller, J. W. et al. Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy. EMBO J 19, 4439-4448 (2000).
12. Timchenko, L. T. et al. Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy. Nucleic Acids Res 24, 4407-4414 (1996). (Pubitemid 26388627)
13. Holt, I. et al.Muscleblind-like proteins: similarities and differences in normal and myotonic dystrophy muscle. Am J Pathol 174, 216-227 (2009).
14. Kuyumcu-Martinez, N. M., Wang, G. S. & Cooper, T. A. Increased steady-state levels of CUGBP1 in myotonic dystrophy 1 are due to PKC-mediated hyperphosphorylation. Mol Cell 28, 68-78 (2007). (Pubitemid 47531966)
15. Koebis, M. et al. Alternative splicing ofmyomesin 1 gene is aberrantly regulated in myotonic dystrophy type 1. Genes Cells 16, 961-972 (2011).
16. Ohsawa, N., Koebis, M., Suo, S., Nishino, I. & Ishiura, S. Alternative splicing of PDLIM3/ALP, for a-actinin-associated LIM protein 3, is aberrant in persons with myotonic dystrophy. Biochem Biophys Res Commun 409, 64-69 (2011).
17. Gomes-Pereira, M., Cooper, T. A. & Gourdon, G. Myotonic dystrophy mouse models: towards rational therapy development. Trends Mol Med 17, 506-517 (2011).
18. Charlet-B, N. et al. Loss of the muscle-specific chloride channel in type 1myotonic dystrophy due to misregulated alternative splicing. Mol Cell 10, 45-53 (2002). (Pubitemid 34879148)
19. Fugier, C. et al. Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy. Nat Med 17, 720-725 (2011).
20. Savkur, R. S., Philips, A. V.& Cooper, T. A. Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy. Nat Genet 29, 40-47 (2001). (Pubitemid 32801806)
21. Berg, J., Jiang, H., Thornton, C. A. & Cannon, S. C. Truncated ClC-1 mRNA in myotonic dystrophy exerts a dominant-negative effect on the Cl current. Neurology 63, 2371-2375 (2004). (Pubitemid 40024352)
22. Kino, Y. et al.MBNLand CELF proteins regulate alternative splicing of the skeletal muscle chloride channel CLCN1. Nucleic Acids Res 37, 6477-6490 (2009).
23. Kanadia, R. N. 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 103, 11748-11753 (2006). (Pubitemid 44182522)
24. Langlois, M. A. et al. Cytoplasmic and nuclear retained DMPKmRNAs are targets for RNA interference in myotonic dystrophy cells. J Biol Chem 280, 16949-16954 (2005).
25. Wheeler, T. M. et al. Reversal of RNA dominance by displacement of protein sequestered on triplet repeat RNA. Science 325, 336-339 (2009).
26. Warf, M. B., Nakamori, M., Matthys, C. M., Thornton, C. A. & Berglund, J. A. Pentamidine reverses the splicing defects associated with myotonic dystrophy. Proc Natl Acad Sci U S A 106, 18551-18556 (2009).
27. Lee, J. E., Bennett, C. F. & Cooper, T. A. RNase H-mediated degradation of toxic RNA in myotonic dystrophy type 1. Proc Natl Acad Sci U S A 109, 4221-4226 (2012).
28. Wang, G. S. et al. PKC inhibition ameliorates the cardiac phenotype in a mouse model of myotonic dystrophy type 1. J Clin Invest 119, 3797-3806 (2009).
29. Sattler, I., Thiericke, R. & Zeeck, A. Themanumycin-group metabolites. Nat Prod Rep 15, 221-240 (1998).
30. Hara, M. et al. Identification of Ras farnesyltransferase inhibitors by microbial screening. Proc Natl Acad Sci U S A 90, 2281-2285 (1993). (Pubitemid 23078610)
31. Gelb, M. H. Protein prenylation, et cetera: signal transduction in two dimensions. Science 275, 1750-1751 (1997). (Pubitemid 27136701)
32. Glomset, J. A. & Farnsworth, C. C. Role of protein modification reactions in programming interactions between ras-related GTPases and cell membranes. Annu Rev Cell Biol 10, 181-205 (1994). (Pubitemid 24372820)
33. Mumby, S. M. Reversible palmitoylation of signaling proteins. Curr Opin Cell Biol 9, 148-154 (1997). (Pubitemid 27135980)
34. Scheffzek, K. et al. The Ras-RasGAP complex: structural basis for GTPase activation and its loss in oncogenic Ras mutants. Science 277, 333-338 (1997). (Pubitemid 27450699)
35. Fiordalisi, J. J. et al. High affinity for farnesyltransferase and alternative prenylation contribute individually to K-Ras4B resistance to farnesyltransferase inhibitors. J Biol Chem 278, 41718-41727 (2003). (Pubitemid 37310430)
36. Kimura, T. et al. Altered mRNA splicing of the skeletalmuscle ryanodine receptor and sarcoplasmic/endoplasmic reticulum Ca21-ATPase in myotonic dystrophy type 1. Hum Mol Genet 14, 2189-2200 (2005). (Pubitemid 41418018)
37. Lin, X. et al. Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy. Hum Mol Genet 15, 2087-2097 (2006). (Pubitemid 43923398)
38. Hino, S. et al.Molecular mechanisms responsible for aberrant splicing of SERCA1 in myotonic dystrophy type 1. Hum Mol Genet 16, 2834-2843 (2007). (Pubitemid 350048382)
39. Ward, A. J., Rimer, M., Killian, J. M., Dowling, J. J. & Cooper, T. A. CUGBP1 overexpression in mouse skeletal muscle reproduces features of myotonic dystrophy type 1. Hum Mol Genet 19, 3614-3622 (2010).
40. Olson, M. F. & Marais, R. Ras protein signalling. Semin Immunol 12, 63-73 (2000). (Pubitemid 30114017)
41. Blaustein, M., Pelisch, F. & Srebrow, A. Signals, pathways and splicing regulation. Int J Biochem Cell Biol 39, 2031-2048 (2007).
42. Blaustein, M. et al. Concerted regulation of nuclear and cytoplasmic activities of SR proteins by AKT. Nat Struct Mol Biol 12, 1037-1044 (2005). (Pubitemid 41746773)
43. Weg-Remers, S., Ponta, H., Herrlich, P. & König, H. Regulation of alternative premRNA splicing by the ERK MAP-kinase pathway. EMBO J 20, 4194-4203 (2001). (Pubitemid 32751835)
44. Lee, J. et al. Proto-oncogenic H-Ras, K-Ras, and N-Ras are involved in muscle differentiation via phosphatidylinositol 3-kinase. Cell Res 20, 919-934 (2010).
45. Mankodi, A. et al.Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat. Science 289, 1769-1773 (2000).