Skip to main content
SpringerLink
Log in

Misregulation of Alternative Splicing Causes Pathogenesis in Myotonic Dystrophy

  • Chapter
Alternative Splicing and Disease

Part of the book series: Progress in Molecular and Subcellular Biology ((PMSB,volume 44))

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 169.00
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 219.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 219.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  • Amack JD, Mahadevan MS (2001) The myotonic dystrophy expanded CUG repeat tract is necessary but not sufficient to disrupt C2C12 myoblast differentiation. Hum Mol Genet 10: 1879-1887

    CAS  PubMed  Google Scholar 

  • Amack JD, Paguio AP, Mahadevan MS (1999) Cis and trans effects of the myotonic dystrophy (DM) mutation in a cell culture model. Hum Mol Genet 8: 1975-1984

    CAS  PubMed  Google Scholar 

  • Amack JD, Reagan SR, Mahadevan MS (2002) Mutant DMPK 3′-UTR tran-scripts disrupt C2C12 myogenic differentiation by compromising MyoD. J Cell Biol 159: 419-429

    CAS  PubMed  Google Scholar 

  • Anant S, Henderson JO, Mukhopadhyay D, Navaratnam N, Kennedy S, Min J, Davidson NO (2001) Novel role for RNA-binding protein CUGBP2 in mam-malian RNA editing. CUGBP2 modulates C to U editing of apolipoprotein B mRNA by interacting with apobec-1 and ACF, the apobec-1 complementation factor. J Biol Chem 276: 47338-47351

    CAS  PubMed  Google Scholar 

  • Anderson PA, Malouf NN, Oakeley AE, Pagani ED, Allen PD (1991) Troponin T isoform expression in humans. A comparison among normal and failing adult heart, fetal heart, and adult and fetal skeletal muscle. Circ Res 69: 1226-1233

    CAS  PubMed  Google Scholar 

  • Anderson PAW, Greig A, Mark TM, Malouf NN, Oakeley AE, Ungerleider RM, Allen PD, Kay BK (1995) Molecular basis of human cardiac troponin T iso-forms expressed in the developing, adult, and failing heart. Circulation Research 76: 681-686

    CAS  PubMed  Google Scholar 

  • Andreadis A (2005) Tau gene alternative splicing: expression patterns, regulation and modulation of function in normal brain and neurodegenerative diseases. Biochim Biophys Acta 1739: 91-103

    CAS  PubMed  Google Scholar 

  • Andreadis A, Brown WM, Kosik KS (1992) Structure and novel exons of the human-tau gene. Biochemistry 31: 10626-10633

    CAS  PubMed  Google Scholar 

  • Artero R, Prokop A, Paricio N, Begemann G, Pueyo I, Mlodzik M, Perez-Alonso M, Baylies MK (1998) The muscleblind gene participates in the organization of Z-bands and epidermal attachments of Drosophila muscles and is regulated by Dmef2. Dev Biol 195: 131-143

    CAS  PubMed  Google Scholar 

  • Ashizawa T, Dubel JR, Harati Y (1993) Somatic instability of CTG repeat in myotonic dystrophy. Neurology 43: 2674-2678

    CAS  PubMed  Google Scholar 

  • Bardouille C, Vullhorst D, Jockusch H (1996) Expression of chloride channel 1 mRNA in cultured myogenic cells: a marker of myotube maturation. FEBS Lett 396: 177-180

    CAS  PubMed  Google Scholar 

  • Beck CL, Fahlke C, George AL Jr (1996) Molecular basis for decreased muscle chloride conductance in the myotonic goat. Proc Natl Acad Sci U S A 93: 11248-11252

    CAS  PubMed  Google Scholar 

  • Begemann G, Paricio N, Artero R, Kiss I, Perez-Alonso M, Mlodzik M (1997) Muscleblind, a gene required for photoreceptor differentiation in Drosophila, encodes novel nuclear Cys3His-type zinc-finger-containing proteins. Development 124: 4321-4331

    CAS  PubMed  Google Scholar 

  • Benders A, Groenen P, Oerlemans F, Veerkamp JH, Wieringa B (1997) Myotonic dystrophy protein kinase Is involved in the modulation of the Ca2+ homeosta-sis in skeletal muscle cells. J Clin Invest 100: 1440-1447

    CAS  PubMed  Google Scholar 

  • Berul CI, Maguire CT, Aronovitz MJ, Greenwood J, Miller C, Gehrmann J, Housman D, Mendelsohn ME, Reddy S (1999) DMPK dosage alterations result in atrioventricular conduction abnormalities in a mouse myotonic dystrophy model. J Clin Invest 103: R1-7

    CAS  PubMed  Google Scholar 

  • Berul CI, Maguire CT, Gehrmann J, Reddy S (2000) Progressive atrioventricular conduction block in a mouse myotonic dystrophy model [in-process citation]. J Interv Card Electrophysiol 4: 351-358

    CAS  PubMed  Google Scholar 

  • Black DL (2003) Mechanisms of Alternative Pre-Messenger RNA Splicing. Annu Rev Biochem 27: 27-48

    Google Scholar 

  • Brandt R, Leger J, Lee G (1995) Interaction of tau with the neural plasma membrane mediated by tau’s amino-terminal projection domain. J Cell Biol 131: 1327-1340

    CAS  PubMed  Google Scholar 

  • Brook JD, McCurrach ME, Harley HG, Buckler AJ, Church D, Aburatani H, Hunter K, Stanton VP, Thirion JP, Hudson T et al. (1992) 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 68: 799-808

    CAS  PubMed  Google Scholar 

  • Buee L, Bussiere T, Buee-Scherrer V, Delacourte A, Hof PR (2000) Tau protein iso-forms, phosphorylation and role in neurodegenerative disorders. Brain Res Brain Res Rev 33: 95-130

    CAS  PubMed  Google Scholar 

  • Buj-Bello A, Furling D, Tronchere H, Laporte J, Lerouge T, Butler-Browne GS, Mandel JL (2002) Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells. Hum Mol Genet 11: 2297-2307

    CAS  PubMed  Google Scholar 

  • Buratti E, Baralle M, De Conti L, Baralle D, Romano M, Ayala YM, Baralle FE (2004) HnRNP H binding at the 5′ splice site correlates with the pathological effect of two intronic mutations in the NF-1 and TSHbeta genes. Nucleic Acids Res 32: 4224-4236

    CAS  PubMed  Google Scholar 

  • Caputi M, Zahler AM (2002) SR proteins and hnRNP H regulate the splicing of the HIV-1 tev-specific exon 6D. EMBO J 21: 845-855

    CAS  PubMed  Google Scholar 

  • Charlet BN, Logan P, Singh G, Cooper TA (2002a) Dynamic antagonism between ETR-3 and PTB regulates cell type-specific alternative splicing. Mol Cell 9: 649-658

    Google Scholar 

  • Charlet BN, Savkur RS, Singh G, Philips AV, Grice EA, Cooper TA (2002b) Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing. Mol Cell 10: 45-53

    Google Scholar 

  • Chen CD, Kobayashi R, Helfman DM (1999) Binding of hnRNP H to an exonic splicing silencer is involved in the regulation of alternative splicing of the rat beta-tropomyosin gene. Genes Dev 13: 593-606

    CAS  PubMed  Google Scholar 

  • Chi LM, Lam SL (2005) Structural roles of CTG repeats in slippage expansion during DNA replication. Nucleic Acids Res 33: 1604-1617

    CAS  PubMed  Google Scholar 

  • Clemens MJ (2001) Initiation factor eIF2 alpha phosphorylation in stress responses and apoptosis. Prog Mol Subcell Biol 27: 57-89

    CAS  PubMed  Google Scholar 

  • Condorelli G, Bueno R, Smith RJ (1994) Two alternatively spliced forms of the human insulin-like growth factor I receptor have distinct biological activities and internalization kinetics. J Biol Chem 269: 8510-8516

    CAS  PubMed  Google Scholar 

  • Copley LM, Zhao WD, Kopacz K, Herman GE, Kioschis P, Poustka A, Taudien S, Platzer M (2002) Exclusion of mutations in the MTMR1 gene as a frequent cause of X-linked myotubular myopathy. Am J Med Genet 107: 256-258

    PubMed  Google Scholar 

  • Cullen ME, Dellow KA, Barton PJ (2004) Structure and regulation of human troponin genes. Mol Cell Biochem 263: 81-90

    CAS  PubMed  Google Scholar 

  • Cummings CJ, Zoghbi HY (2000) Fourteen and counting: unraveling trinucleotide repeat diseases. Hum Mol Genet 9: 909-916

    CAS  PubMed  Google Scholar 

  • Dansithong W, Paul S, Comai L, Reddy S (2005) MBNL1 is the primary determi-nant of focus formation and aberrant insulin receptor splicing in DM1. J Biol Chem 280: 5773-5780

    CAS  PubMed  Google Scholar 

  • Davis BM, McCurrach ME, Taneja KL, Singer RH, Housman DE (1997) Expansion of a CUG trinucleotide repeat in the 3′ untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts. Proc Natl Acad Sci 94: 7388-7393

    CAS  PubMed  Google Scholar 

  • Durand GM, Bennett MVL, Zukin, RS (1993) Splice Variants of the N-methyl-D-aspartate Receptor NR1 Identify Domains Involved in Regulation by Polyamines and Protein Kinase-C. Proc Natl Acad Sci USA 90: 6731-6735

    CAS  PubMed  Google Scholar 

  • Ebralidze A, Wang Y, Petkova V, Ebralidse K, Junghans RP (2004) RNA Leaching of transcription factors disrupts transcription in myotonic dystrophy. Science 303: 383-387

    CAS  PubMed  Google Scholar 

  • Ehlers MD, Tingley WG, Huganir RL (1995) Regulated subcellular distribution of the NR1 subunit of the NMDA receptor. Science 269: 1734-1737

    CAS  PubMed  Google Scholar 

  • Fardaei M, Larkin K, Brook JD, Hamshere MG (2001) In vivo co-localisation of MBNL protein with DMPK expanded-repeat transcripts. Nucleic Acids Res 29: 2766-2771

    CAS  PubMed  Google Scholar 

  • Fardaei M, Rogers MT, Thorpe HM, Larkin K, Hamshere MG, Harper PS, Brook JD (2002) Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells. Hum Mol Genet 11: 805-814

    CAS  PubMed  Google Scholar 

  • Faustino NA, Cooper TA (2003) Pre-mRNA splicing and human disease. Genes Dev 17: 419-437

    CAS  PubMed  Google Scholar 

  • Faustino NA, Cooper TA (2005) Identification of putative new splicing targets for ETR-3 using its SELEX sequences. Mol Cell Biol 25: 879-887

    CAS  PubMed  Google Scholar 

  • Forissier JF, Carrier L, Farza H, Bonne G, Bercovici J, Richard P, Hainque B, Townsend PJ, Yacoub MH, Faure S, Dubourg O, Millaire A, Hagege AA, Desnos M, Komajda M, Schwartz K (1996) Codon 102 of the cardiac troponin T gene is a putative hot spot for mutations in familial hypertrophic cardiomyopa- thy. Circulation 94: 3069-3073

    CAS  PubMed  Google Scholar 

  • Fu YH, Pizzuti A, Fenwick RG, King J, Rajnarayan S, Dunne PW, Dubel J, Nasser GA, Ashizawa T, Dejong P, Wieringa B, Korneluk R, Perryman MB, Epstein HF, Caskey CT (1992) An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 255: 1256-1258

    CAS  PubMed  Google Scholar 

  • Furling D, Coiffier L, Mouly V, Barbet JP, St Guily JL, Taneja K, Gourdon G, Junien C, Butler-Browne GS (2001) Defective satellite cells in congenital myotonic dystrophy. Hum Mol Genet 10: 2079-2087

    CAS  PubMed  Google Scholar 

  • Gacy AM, Goellner G, Juranic N, Macura S, McMurray CT (1995) Trinucleotide repeats that expand in human disease form hairpin structures in vitro. Cell 81: 533-540

    CAS  PubMed  Google Scholar 

  • Gellibolian R BA, Wells RD (1997) Triplet repeat instability and DNA topology: an expansion model based on statistical mechanics. Journal of Biological Chemistry 272: 16793-16797

    CAS  PubMed  Google Scholar 

  • Gennarelli M, Pavoni M, Amicucci P, Angelini C, Menegazzo E, Zelano G, Novelli G, Dallapiccola B (1999) Reduction of the DM-associated homeo domain protein (DMAHP) mRNA in different brain areas of myotonic dystrophy patients. Neuromuscul Disord 9: 215-219

    CAS  PubMed  Google Scholar 

  • Godt RE, Fogaca RTH, Silva IK, Nosek TM (1993) Contraction of developing avian heart muscle. Comp Biochem Physiol [A] 105: 213-218

    CAS  Google Scholar 

  • Goedert M, Spillantini MG, Crowther RA (1992) Cloning of a Big Tau- Microtubule-Associated Protein Characteristic of the Peripheral Nervous System. Proc Natl Acad Sci USA 89: 1983-1987

    CAS  PubMed  Google Scholar 

  • Gomes-Pereira M, Fortune MT, Ingram L, McAbney JP, Monckton DG (2004) Pms2 is a genetic enhancer of trinucleotide CAG.CTG repeat somatic mosaicism: implications for the mechanism of triplet repeat expansion. Hum Mol Genet 13: 1815-1825

    CAS  PubMed  Google Scholar 

  • Gorbunova V, Seluanov A, Mittelman D, Wilson JH (2004) Genome-wide demethylation destabilizes CTG.CAG trinucleotide repeats in mammalian cells. Hum Mol Genet 13: 2979-2989

    CAS  PubMed  Google Scholar 

  • Gotz J, Tolnay M, Barmettler R, Ferrari A, Burki K, Goedert M, Probst A, Nitsch RM (2001) Human tau transgenic mice. Towards an animal model for neuro- and glialfibrillary lesion formation. Adv Exp Med Biol 487: 71-83

    CAS  PubMed  Google Scholar 

  • Gourdon G, Radvanyi F, Lia AS, Duros C, Blanche M, Abitbol M, Junien C, Hofmannradvanyi H (1997) Moderate intergenerational and somatic instability of a 55-CTG repeat In transgenic mice. Nature Gen 15: 190-192

    CAS  Google Scholar 

  • Groenen PJ, Wansink DG, Coerwinkel M, van den Broek W, Jansen G, Wieringa B (2000) Constitutive and regulated modes of splicing produce six major myotonic dystrophy protein kinase (DMPK) isoforms with distinct properties. Hum Mol Genet 9: 605-616

    CAS  PubMed  Google Scholar 

  • Gromak N, Matlin AJ, Cooper TA, Smith CW (2003) Antagonistic regulation of alpha-actinin alternative splicing by CELF proteins and polypyrimidine tract binding protein. RNA 9: 443-456

    CAS  PubMed  Google Scholar 

  • Harper PS (2001) Myotonic dystrophy. Saunders, London

    Google Scholar 

  • Harris SE, Winchester CL, Johnson KJ (2000) Functional analysis of the home- odomain protein SIX5. Nucleic Acids Res 28: 1871-1878

    CAS  PubMed  Google Scholar 

  • Hartmann AM, Rujescu D, Giannakouros T, Nikolakaki E, Goedert M, Mandelkow EM, Gao QS, Andreadis A, Stamm S (2001) Regulation of alterna- tive splicing of human tau exon 10 by phosphorylation of splicing factors. Mol Cell Neurosci 18: 80-90

    CAS  PubMed  Google Scholar 

  • Ho TH, Charlet BN, Poulos MG, Singh G, Swanson MS, Cooper TA (2004) Muscleblind proteins regulate alternative splicing. EMBO J 23: 3103-3112

    CAS  PubMed  Google Scholar 

  • Ho TH, Bundman D, Armstrong DL, Cooper TA (2005a) Transgenic mice express- ing CUG-BP1 reproduce the myotonic dystrophy pattern of splicing. Hum Mol Genet, in press

    Google Scholar 

  • Ho TH, Savkur R, Poulos MG, Mancini MA, Swanson MS, Cooper TA (2005b) Co-localization of muscleblind with RNA foci is separable from mis-regulation of alternative splicing in myotonic dystrophy. J Cell Sci, in press

    Google Scholar 

  • Houseley JM, Wang Z, Brock GJ, Soloway J, Artero R, Perez-Alonso M, O’Dell KM, Monckton DG (2005) Myotonic dystrophy associated expanded CUG repeat muscleblind positive ribonuclear foci are not toxic to Drosophila. Hum Mol Genet 14: 873-883

    CAS  PubMed  Google Scholar 

  • Inukai A, Doyu M, Kato T, Liang Y, Kuru S, Yamamoto M, Kobayashi Y, Sobue G (2000) Reduced expression of DMAHP/SIX5 gene in myotonic dystrophy mus- cle. Muscle Nerve 23: 1421-1426

    CAS  PubMed  Google Scholar 

  • Ishihara T, Zhang B, Higuchi M, Yoshiyama Y, Trojanowski JQ, Lee VM (2001) Age-dependent induction of congophilic neurofibrillary tau inclusions in tau transgenic mice. Am J Pathol 158: 555-562

    CAS  PubMed  Google Scholar 

  • Jansen G, Groenen PJ, Bachner D, Jap PH, Coerwinkel M, Oerlemans F, van den Broek W, Gohlsch B, Pette D, Plomp JJ, Molenaar PC, Nederhoff MG, van Echteld CJ, Dekker M, Berns A, Hameister H, Wieringa B (1996) Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice. Nature Genet 13: 316-324

    CAS  PubMed  Google Scholar 

  • Jiang H, Mankodi A, Swanson MS, Moxley RT, Thornton CA (2004) Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons. Hum Mol Genet 13: 3079-3088

    CAS  PubMed  Google Scholar 

  • Jin S, Shimizu M, Balasubramanyam A, Epstein HF (2000) Myotonic dystrophy protein kinase (DMPK) induces actin cytoskeletal reorganization and apoptotic-like blebbing in lens cells. Cell Motil Cytoskeleton 45: 133-148

    CAS  PubMed  Google Scholar 

  • Joost HG (1995) Structural and functional heterogeneity of insulin receptors. Cell Signal 7: 85-91

    CAS  PubMed  Google Scholar 

  • Kaliman P, Catalucci D, Lam JT, Kondo R, Gutierrez JC, Reddy S, Palacin M, Zorzano A, Chien KR, Ruiz-Lozano P (2005) Myotonic dystrophy protein kinase phosphorylates phospholamban and regulates calcium uptake in cardiomyocyte sarcoplasmic reticulum. J Biol Chem 280: 8016-8021

    CAS  PubMed  Google Scholar 

  • Kanadia RN, Johnstone KA, Mankodi A, Lungu C, Thornton CA, Esson D, Timmers AM, Hauswirth WW, Swanson MS (2003a) A muscleblind knockout model for myotonic dystrophy. Science 302: 1978-1980

    CAS  PubMed  Google Scholar 

  • Kanadia RN, Urbinati CR, Crusselle VJ, Luo D, Lee YJ, Harrison JK, Oh SP, Swanson MS (2003b) Developmental expression of mouse muscleblind genes Mbnl1, Mbnl2 and Mbnl3. Gene Expr Patterns 3: 459-462

    CAS  PubMed  Google Scholar 

  • Kellerer M, Lammers R, Ermel B, Tippmer S, Vogt B, Obermaier-Kusser B, Ullrich A, Haring HU (1992) Distinct alpha-subunit structures of human insulin receptor A and B variants determine differences in tyrosine kinase activities. Biochemistry 31: 4588-4596

    CAS  PubMed  Google Scholar 

  • Kino Y, Mori D, Oma Y, Takeshita Y, Sasagawa N, Ishiura S (2004) Muscleblind protein, MBNL1/EXP, binds specifically to CHHG repeats. Hum Mol Genet 13: 495-507

    CAS  PubMed  Google Scholar 

  • Kiuchi A, Otsuka N, Namba Y, Nakano I, Tomonaga M (1991) Presenile appear- ance of abundant Alzheimer’s neurofibrillary tangles without senile plaques in the brain in myotonic dystrophy. Acta Neuropathol (Berl) 82: 1-5

    CAS  Google Scholar 

  • Klesert TR, Otten AD, Bird TD, Tapscott SJ (1997) Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP. Nature Genet 16: 402-406

    CAS  PubMed  Google Scholar 

  • Klesert TR, Cho DH, Clark JI, Maylie J, Adelman J, Snider L, Yuen EC, Soriano P, Tapscott SJ (2000) Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Nat Genet 25: 105-109

    CAS  PubMed  Google Scholar 

  • Koch MC, Steinmeyer K, Lorenz C, Ricker K, Wolf F, Otto M, Zoll B, Lehmann- Horn F, Grzeschik KH, Jentsch TJ (1992) The skeletal muscle chloride channel in dominant and recessive human myotonia. Science 257: 797-800

    CAS  PubMed  Google Scholar 

  • Kosaki A, Pillay TS, Xu L, Webster NJ (1995) The B isoform of the insulin recep- tor signals more efficiently than the A isoform in HepG2 cells. J Biol Chem 270: 20816-20823

    CAS  PubMed  Google Scholar 

  • Ladd AN, Charlet BN, Cooper TA (2001) The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing. Mol Cell Biol 21: 1285-1296

    CAS  PubMed  Google Scholar 

  • Ladd AN, Nguyen HN, Malhotra K, Cooper TA (2004) CELF6, a member of the CELF family of RNA binding proteins, regulates MSE-dependent alternative splicing. J Biol Chem 279: 17756-17764

    CAS  PubMed  Google Scholar 

  • Lam LT, Pham YC, Man N, Morris GE (2000) Characterization of a monoclonal antibody panel shows that the myotonic dystrophy protein kinase, DMPK, is expressed almost exclusively in muscle and heart [in-process citation]. Hum Mol Genet 9: 2167-2173

    CAS  PubMed  Google Scholar 

  • Laporte J, Blondeau F, Buj-Bello A, Mandel JL (2001) The myotubularin family: from genetic disease to phosphoinositide metabolism. Trends Genet 17: 221-228

    CAS  PubMed  Google Scholar 

  • Le Ber I, Martinez M, Campion D, Laquerriere A, Betard C, Bassez G, Girard C, Saugier-Veber P, Raux G, Sergeant N, Magnier P, Maisonobe T, Eymard B, Duyckaerts C, Delacourte A, Frebourg T, Hannequin D (2004) A non-DM1, non-DM2 multisystem myotonic disorder with frontotemporal dementia: phenotype and suggestive mapping of the DM3 locus to chromosome 15q21-24. Brain 127: 1979-1992

    PubMed  Google Scholar 

  • Li K, Arikan MC, Andreadis A (2003) Modulation of the membrane-binding domain of tau protein: splicing regulation of exon 2. Brain Res Mol Brain Res 116: 94-105

    CAS  PubMed  Google Scholar 

  • Liquori CL, Ricker K, Moseley ML, Jacobsen JF, Kress W, Naylor SL, Day JW, Ranum LP (2001) Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science 293: 864-867

    CAS  PubMed  Google Scholar 

  • Lopez AJ (1998) Alternative splicing of pre-mRNA: developmental consequences and mechanisms of regulation. Ann Rev Genet 32: 279-305

    CAS  PubMed  Google Scholar 

  • Lu X, Timchenko NA, Timchenko LT (1999) Cardiac elav-type RNA-binding pro- tein (ETR-3) binds to RNA CUG repeats expanded in myotonic dystrophy. Hum Mol Genet 8: 53-60

    CAS  PubMed  Google Scholar 

  • Lu QW, Morimoto S, Harada K, Du CK, Takahashi-Yanaga F, Miwa Y, Sasaguri T, Ohtsuki I (2003) Cardiac troponin T mutation R141 W found in dilated cardiomyopathy stabilizes the troponin T-tropomyosin interaction and causes a Ca2+ desensitization. J Mol Cell Cardiol 35: 1421-1427

    CAS  PubMed  Google Scholar 

  • Mahadevan M, Tsilfidis C, Sabourin L, Shutler G, Amemiya C, Jansen G, Neville C, Narang M, Barcelo J, Ohoy K, Leblond S, Earlemacdonald J, Dejong PJ, Wieringa B, Korneluk RG (1992) Myotonic dystrophy mutation - an unstable CTG repeat in the 3′ untranslated region of the gene. Science 255: 1253-1255

    CAS  PubMed  Google Scholar 

  • Mankodi A, Logigian E, Callahan L, McClain C, White R, Henderson D, Krym M, Thornton CA (2000) Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat. Science 289: 1769-1773

    CAS  PubMed  Google Scholar 

  • Mankodi A, Urbinati CR, Yuan QP, Moxley RT, Sansone V, Krym M, Henderson D, Schalling M, Swanson MS, Thornton CA (2001) Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2. Hum Mol Genet 10: 2165-2170

    CAS  PubMed  Google Scholar 

  • Mankodi A, Takahashi MP, Jiang H, Beck CL, Bowers WJ, Moxley RT, Cannon SC, Thornton CA (2002) 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

    CAS  PubMed  Google Scholar 

  • Mankodi A, Teng-Umnuay P, Krym M, Henderson D, Swanson M, Thornton CA (2003) Ribonuclear inclusions in skeletal muscle in myotonic dystrophy types 1 and 2. Ann Neurol 54: 760-768

    CAS  PubMed  Google Scholar 

  • Martorell L, Gamez J, Cayuela ML, Gould FK, McAbney JP, Ashizawa T, Monckton DG, Baiget M (2004) Germline mutational dynamics in myotonic dystrophy type 1 males: allele length and age effects. Neurology 62: 269-274

    CAS  PubMed  Google Scholar 

  • McAuliffe JJ, Gao LZ, Solaro RJ (1990) Changes in myofibrillar activation and troponin C Ca2+ binding associated with troponin T isoform switching in devel- oping rabbit heart. Circ Res 66: 1204-1216

    CAS  PubMed  Google Scholar 

  • Michalowski S, Miller JW, Urbinati CR, Paliouras M, Swanson MS, Griffith J (1999) Visualization of double-stranded RNAs from the myotonic dystrophy protein kinase gene and interactions with CUG-binding protein. Nucleic Acids Res 27: 3534-3542

    CAS  PubMed  Google Scholar 

  • Miller JW, Urbinati CR, Teng-Umnuay P, Stenberg MG, Byrne BJ, Thornton CA, Swanson MS (2000) Recruitment of human muscleblind proteins to (CUG)n expansions associated with myotonic dystrophy. EMBO J 19: 4439-4448

    CAS  PubMed  Google Scholar 

  • Min HS, Chan RC, Black DL (1995) The generally expressed hnRNP F is involved in a neural-specific pre-mRNA splicing event. Genes Dev 9: 2659-2671

    CAS  PubMed  Google Scholar 

  • Modrek B, Lee C (2002) A genomic view of alternative splicing. Nat Genet 30: 13-19

    CAS  PubMed  Google Scholar 

  • Mosthaf L, Grako K, Dull TJ, Coussens L, Ullrich A, McClain DA (1990) Functionally distinct insulin receptors generated by tissue-specific alternative splicing. EMBO J 9: 2409-2413

    CAS  PubMed  Google Scholar 

  • Mounsey JP, Mistry DJ, Ai CW, Reddy S, Moorman JR (2000) Skeletal muscle sodium channel gating in mice deficient in myotonic dystrophy protein kinase. Hum Mol Genet 9: 2313-2320

    CAS  PubMed  Google Scholar 

  • Mukhopadhyay D, Houchen CW, Kennedy S, Dieckgraefe BK, Anant S (2003) Coupled mRNA stabilization and translational silencing of cyclooxygenase-2 by a novel RNA binding protein, CUGBP2. Mol Cell 11: 113-126

    CAS  Google Scholar 

  • Nakajima-Taniguchi C, Matsui H, Fujio Y, Nagata S, Kishimoto T, Yamauchi- Takihara K (1997) Novel missense mutation in cardiac troponin T gene found in Japanese patient with hypertrophic cardiomyopathy. Journal of Molecular & Cellular Cardiology 29: 839-843

    CAS  Google Scholar 

  • Olson EN (1992) Interplay between proliferation and differentiation within the myogenic lineage. Dev Biol 154: 261-272

    CAS  PubMed  Google Scholar 

  • Otten AD, Tapscott SJ (1995) Triplet repeat expansion in myotonic dystrophy alters the adjacent chromatin structure. Proc Natl Acad Sci 92: 5465-5469

    CAS  PubMed  Google Scholar 

  • Pal R, Agbas A, Bao X, Hui D, Leary C, Hunt J, Naniwadekar A, Michaelis ML, Kumar KN, Michaelis EK (2003) Selective dendrite-targeting of mRNAs of NR1 splice variants without exon 5: identification of a cis-acting sequence and isolation of sequence-binding proteins. Brain Res 994: 1-18

    CAS  PubMed  Google Scholar 

  • Pearson CE, Ewel A, Acharya S, Fishel RA, Sinden RR (1997) Human MSH2 binds to trinucleotide repeat DNA structures associated with neurodegenerative diseases. Hum Mol Genet 6: 1117-1123

    CAS  PubMed  Google Scholar 

  • Philips AV, Timchenko LT, Cooper TA (1998) Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy. Science 280: 737-741

    CAS  PubMed  Google Scholar 

  • Ponte P, Gonzalez-DeWhitt P, Schilling J, Miller J, Hsu D, Greenberg B, Davis K, Wallace W, Ieberburg I, Fuller F (1988) A new A4 amyloid mRNA contains a domain homologous to serine proteinase inhibitors. Nature 331: 525-527

    CAS  PubMed  Google Scholar 

  • Pusch M (2002) Myotonia caused by mutations in the muscle chloride channel gene CLCN1. Hum Mutat 19: 423-434

    CAS  PubMed  Google Scholar 

  • Ranum LP, Day JW (2002) Myotonic dystrophy: clinical and molecular parallels between myotonic dystrophy type 1 and type 2. Curr Neurol Neurosci Rep 2: 465-470

    PubMed  Google Scholar 

  • Reddy S, Smith DB, Rich MM, Leferovich JM, Reilly P, Davis BM, Tran K, Rayburn H, Bronson R, Cros D, Balice-Gordon RJ, Housman D (1996) Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy. Nature Genet 13: 325-335

    CAS  PubMed  Google Scholar 

  • Rhodes TH, Vite CH, Giger U, Patterson DF, Fahlke C, George AL (1999) A mis- sense mutation in canine ClC-1 causes recessive myotonia congenita in the dog. FEBS Lett 456: 54-58

    CAS  PubMed  Google Scholar 

  • Richards RI, Sutherland GR (1994) Simple repeat DNA is not replicated simply. Nat Genet 6: 114-116

    CAS  PubMed  Google Scholar 

  • Saba S, Vanderbrink BA, Luciano B, Aronovitz MJ, Berul CI, Reddy S, Housman D, Mendelsohn ME, Estes NA 3rd, Wang PJ (1999) Localization of the sites of conduction abnormalities in a mouse model of myotonic dystrophy. J Cardiovasc Electrophysiol 10: 1214-1220

    CAS  PubMed  Google Scholar 

  • Sabourin LA, Tamai K, Narang MA, Korneluk RG (1997) Overexpression of 3′-untranslated region of the myotonic dystrophy kinase cDNA inhibits myoblast differentiation in vitro. J Biol Chem 272: 29626-29635

    CAS  PubMed  Google Scholar 

  • Sandbrink R, Masters CL, Beyreuther K (1996) APP gene family. Alternative splic- ing generates functionally related isoforms. Ann N Y Acad Sci 777: 281-287

    CAS  PubMed  Google Scholar 

  • Sarkar PS, Appukuttan B, Han J, Ito Y, Ai C, Tsai W, Chai Y, Stout JT, Reddy S (2000) Heterozygous loss of Six5 in mice is sufficient to cause ocular cataracts. Nat Genet 25: 110-114

    CAS  PubMed  Google Scholar 

  • Sato K, Shiraishi S, Nakagawa H, Kuriyama H, Altschuler RA (2000) Diversity and plasticity in amino acid receptor subunits in the rat auditory brain stem. Hear Res 147: 137-144

    CAS  PubMed  Google Scholar 

  • Savkur RS, Philips AV, Cooper TA (2001) Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy. Nat Gen 29: 40-47

    CAS  Google Scholar 

  • Savkur RS, Philips AV, Cooper TA, Dalton JC, Moseley ML, Ranum LP, Day JW (2004) Insulin receptor splicing alteration in myotonic dystrophy type 2. Am J Hum Genet 74: 1309-1313

    CAS  PubMed  Google Scholar 

  • Savouret C, Brisson E, Essers J, Kanaar R, Pastink A, te Riele H, Junien C, Gourdon G (2003) CTG repeat instability and size variation timing in DNA repair-deficient mice. Embo J 22: 2264-2273

    CAS  PubMed  Google Scholar 

  • Seino S, Bell GI (1989) Alternative splicing of human insulin receptor messenger RNA. Biochem Biophys Res Commun 159: 312-316

    CAS  PubMed  Google Scholar 

  • Sergeant N, Sablonniere B, Schraen-Maschke S, Ghestem A, Maurage CA, Wattez A, Vermersch P, Delacourte A (2001) Dysregulation of human brain microtubule- associated tau mRNA maturation in myotonic dystrophy type 1. Hum Mol Genet 10: 2143-2155

    CAS  PubMed  Google Scholar 

  • Seznec H, Agbulut O, Sergeant N, Savouret C, Ghestem A, Tabti N, Willer JC, Ourth L, Duros C, Brisson E, Fouquet C, Butler-Browne G, Delacourte A, Junien C, Gourdon G (2001) Mice transgenic for the human myotonic dystro- phy region with expanded CTG repeats display muscular and brain abnormali- ties. Hum Mol Genet 10: 2717-2226

    CAS  PubMed  Google Scholar 

  • Simonsen A, Wurmser AE, Emr SD, Stenmark H (2001) The role of phospho- inositides in membrane transport. Curr Opin Cell Biol 13: 485-492

    CAS  PubMed  Google Scholar 

  • Squillace RM, Chenault DM, Wang EH (2002) Inhibition of muscle differentiation by the novel muscleblind-related protein CHCR. Dev Biol 250: 218-230

    CAS  PubMed  Google Scholar 

  • Storbeck CJ, Drmanic S, Daniel K, Waring JD, Jirik FR, Parry DJ, Ahmed N, Sabourin LA, Ikeda JE, Korneluk RG (2004) Inhibition of myogenesis in transgenic mice expressing the human DMPK 3′-UTR. Hum Mol Genet 13: 589-600

    CAS  PubMed  Google Scholar 

  • Taneja KL, McCurrach M, Schalling M, Housman D, Singer RH (1995) Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues. J Cell Bio 128: 995-1002

    CAS  Google Scholar 

  • Tang K, Wang C, Shen C, Sheng S, Ravid R, Jing N (2003) Identification of a novel alternative splicing isoform of human amyloid precursor protein gene, APP639. Eur J Neurosci 18: 102-108

    Google Scholar 

  • Thierfelder L, Watkins H, MacRae C, Lamas R, McKenna W, Vosberg HP, Seidman JG, Seidman CE (1994) Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcom- ere. Cell 77: 701-712

    PubMed  Google Scholar 

  • Thornton CA, Wymer JP, Simmons Z, McClain C, Moxley RT (1997) Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene. Nature Genet 16: 407-409

    CAS  PubMed  Google Scholar 

  • Tian B, White RJ, Xia T, Welle S, Turner DH, Mathews MB, Thornton CA (2000) Expanded CUG repeat RNAs form hairpins that activate the double-stranded RNA-dependent protein kinase PKR. RNA 6: 79-87

    CAS  PubMed  Google Scholar 

  • Timchenko LT, Caskey CT, Swanson MS (1996a) Myotonic dystrophy: discussion of molecular mechanism. Cold Spring Harbor Sym Quant Biol 61: 607-614

    Google Scholar 

  • Timchenko LT, Miller JW, Timchenko NA, Devore DR, Datar KV, Lin LJ, Roberts R, Caskey CT, Swanson MS (1996b) Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy. Nucl Acids Res 24: 4407-4414

    CAS  PubMed  Google Scholar 

  • Timchenko NA, Welm AL, Lu X, Timchenko LT (1999) CUG repeat binding protein (CUGBP1) interacts with the 5′ region of C/EBPbeta mRNA and regulates translation of C/EBPbeta isoforms. Nucleic Acids Res 27: 4517-4525

    CAS  PubMed  Google Scholar 

  • Timchenko NA, Cai ZJ, Welm AL, Reddy S, Ashizawa T, Timchenko LT (2001a) RNA CUG repeats sequester CUGBP1 and alter protein levels and activity of CUGBP1. J Biol Chem 276: 7820-7826

    CAS  PubMed  Google Scholar 

  • Timchenko NA, Iakova P, Cai ZJ, Smith JR, Timchenko LT (2001b) Molecular basis for impaired muscle differentiation in myotonic dystrophy. Mol Cell Biol 21: 6927-6938

    CAS  PubMed  Google Scholar 

  • Timchenko NA, Patel R, Iakova P, Cai ZJ, Quan L, Timchenko LT (2004) Overexpression of CUG triplet repeat-binding protein, CUGBP1, in mice inhibits myogenesis. J Biol Chem 279: 13129-13139

    CAS  PubMed  Google Scholar 

  • Tiscornia G, Mahadevan MS (2000) Myotonic dystrophy: the role of the CUG triplet repeats in splicing of a novel DMPK exon and altered cytoplasmic DMPK mRNA isoform ratios. Mol Cell 5: 959-967

    CAS  PubMed  Google Scholar 

  • Tohgi H, Kawamorita A, Utsugisawa K, Yamagata M, Sano M (1994) Muscle histopathology in myotonic dystrophy in relation to age and muscular weakness. Muscle Nerve 17: 1037-1043

    CAS  PubMed  Google Scholar 

  • Traynelis SF, Hartley M, Heinemann SF (1995) Control of proton sensitivity of the NMDA receptor by RNA splicing and polyamines. Science 268: 873-876

    CAS  PubMed  Google Scholar 

  • Tsien JZ, Huerta PT, Tonegawa S (1996) The essential role of hippocampal CA1 NMDA receptor-dependent synaptic plasticity in spatial memory. Cell 87: 1327-1338

    CAS  PubMed  Google Scholar 

  • Tsilfidis C, MacKenzie AE, Mettler G, Barcelo J, Korneluk RG (1992) Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy. Nat Gen 1: 192-195

    CAS  Google Scholar 

  • Ueda H, Shimokawa M, Yamamoto M, Kameda N, Mizusawa H, Baba T, Terada N, Fujii Y, Ohno S, Ishiura S, Kobayashi T (1999) Decreased expression of myotonic dystrophy protein kinase and disorganization of sarcoplasmic reticulum in skeletal muscle of myotonic dystrophy. J Neurol Sci 162: 38-50

    CAS  PubMed  Google Scholar 

  • Ueda H, Ohno S, Kobayashi T (2000) Myotonic dystrophy and myotonic dystrophy protein kinase [in-process citation]. Prog Histochem Cytochem 35: 187-251

    CAS  PubMed  Google Scholar 

  • van Herpen RE, Oude Ophuis RJ, Wijers M, Bennink MB, van de Loo FA, Fransen J, Wieringa B, Wansink DG (2005) Divergent mitochondrial and endo- plasmic reticulum association of DMPK splice isoforms depends on unique sequence arrangements in tail anchors. Mol Cell Biol 25: 1402-1414

    PubMed  Google Scholar 

  • Varani L, Spillantini MG, Goedert M, Varani G (2000) Structural basis for recog- nition of the RNA major groove in the tau exon 10 splicing regulatory element by aminoglycoside antibiotics. Nucleic Acids Res 28: 710-719

    CAS  PubMed  Google Scholar 

  • Vermersch P, Sergeant N, Ruchoux MM, Hofmann-Radvanyi H, Wattez A, Petit H, Dwailly P, Delacourte A (1996) Specific tau variants in the brains of patients with myotonic dystrophy. Neurology 47: 711-717

    CAS  PubMed  Google Scholar 

  • Vogt B, Carrascosa JM, Ermel B, Ullrich A, Haring HU (1991) The two isotypes of the human insulin receptor (HIR-A and HIR-B) follow different internaliza- tion kinetics. Biochem Biophys Res Commun 177: 1013-1018

    CAS  PubMed  Google Scholar 

  • Wakimoto H, Maguire CT, Sherwood MC, Vargas MM, Sarkar PS, Han J, Reddy S, Berul CI ( 2002) Characterization of cardiac conduction system abnormalities in mice with targeted disruption of Six5 gene. J Interv Card Electrophysiol 7: 127-135

    PubMed  Google Scholar 

  • Wallgren-Pettersson C, Clarke A, Samson F, Fardeau M, Dubowitz V, Moser H, Grimm T, Barohn RJ, Barth PG (1995) The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies. J Med Genet 32: 673-679

    CAS  PubMed  Google Scholar 

  • Wang J, Pegoraro E, Menegazzo E, Gennarelli M, Hoop RC, Angelini C, Hoffman EP (1995) Myotonic dystrophy: evidence for a possible dominant- negative RNA mutation. Hum Mol Genet 4: 599-606

    CAS  PubMed  Google Scholar 

  • Wang YH, Amirhaeri S, Kang S, Wells RD, Griffith JD (1994) Preferential nucle- osome assembly at DNA triplet repeats from the myotonic dystrophy gene. Science 265: 669-671

    CAS  PubMed  Google Scholar 

  • Wansink DG, van Herpen RE, Coerwinkel-Driessen MM, Groenen PJ, Hemmings BA, Wieringa B (2003) Alternative splicing controls myotonic dystrophy protein kinase structure, enzymatic activity, and subcellular localiza- tion. Mol Cell Biol 23: 5489-5501

    CAS  PubMed  Google Scholar 

  • Watkins H, McKenna WJ, Thierfelder L, Suk HJ, Anan R, O’Donoghue A, Spirito P, Matsumori A, Moravec CS, Seidman JG et al. (1995) Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy. New Eng J Med 332: 1058-1064

    CAS  PubMed  Google Scholar 

  • Wells RD (1996) Molecular basis of genetic instability of triplet repeats. J Biol Chem 271: 2875-2878

    CAS  PubMed  Google Scholar 

  • Williams BR (2001) Signal integration via PKR. Sci STKE 2001: RE2

    Google Scholar 

  • Wong LJ, Ashizawa T (1997) Instability of the (CTG)n repeat in congenital myotonic dystrophy. Am J Hum Genet 61: 1445-1448

    CAS  PubMed  Google Scholar 

  • Xu Q, Modrek B, Lee C (2002) Genome-wide detection of tissue-specific alterna- tive splicing in the human transcriptome. Nucleic Acids Res 30: 3754-3766

    CAS  PubMed  Google Scholar 

  • Zanoteli E, Laporte J, Rocha JC, Kretz C, Oliveira AS, Mandel JL, Perez AB, Gabbai AA, Buj-Bello A (2005) Deletion of both MTM1 and MTMR1 genes in a boy with myotubular myopathy. Am J Med Genet A, E-pub ahead of print

    Google Scholar 

  • Zhang J, Bendahhou S, Sanguinetti MC, Ptacek LJ (2000) Functional conse- quences of chloride channel gene (CLCN1) mutations causing myotonia con- genita. Neurology 54: 937-942

    CAS  PubMed  Google Scholar 

  • Zhang W, Liu H, Han K, Grabowski PJ (2002) Region-specific alternative splicing in the nervous system: implications for regulation by the RNA-binding protein NAPOR. RNA 8: 671-685

    CAS  PubMed  Google Scholar 

  • Zukin RS, Bennett MV (1995) Alternatively spliced isoforms of the NMDARI receptor subunit. Trends Neurosci 18: 306-313

    CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Pathology, Baylor College of Medicine, 77030, Houston, TX, USA

    N. Muge Kuyumcu-Martinez

  2. Departments of Pathology and Molecular and Cellular Biology, Baylor College of Medicine, 77030, Houston, TX, USA

    Thomas A. Cooper

Authors
  1. N. Muge Kuyumcu-Martinez
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Thomas A. Cooper
    View author publications

    You can also search for this author in PubMed Google Scholar

Editor information

Editors and Affiliations

  1. Institute of Molecular Genetics of Montpellier, 1919 Route de Mende, 5051, 34293, Montpellier Cedex 05, France

    Philippe Jeanteur

Rights and permissions

Reprints and permissions

Copyright information

© 2006 Springer Berlin Heidelberg

About this chapter

Cite this chapter

Kuyumcu-Martinez, N.M., Cooper, T.A. (2006). Misregulation of Alternative Splicing Causes Pathogenesis in Myotonic Dystrophy. In: Jeanteur, P. (eds) Alternative Splicing and Disease. Progress in Molecular and Subcellular Biology, vol 44. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-34449-0_7

Download citation

Publish with us

Policies and ethics

Search

Navigation