Myotonic dystrophy: RNA gain of function;Myotone dystrophie: Pathologischer "gain of function" auf RNA-Ebene

Medizinische Genetik

Volumn 15, Issue 1, 2003, Pages 80-85

  Wöhrle, Doris ^a   Steinbach, Peter ^a  

^a UNIVERSITY HOSPITAL ULM   (Germany)

Author keywords

Alternative splicing; CELF family; CLC1; CUGBP; DM1; DM2; INSR; MAPT; MTMR; Myotonic dystrophy; RNA gain of function; TNNT2

Indexed keywords

ALTERNATIVE RNA SPLICING; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CELL DIFFERENTIATION; CELL SPECIFICITY; HUMAN; MULTIGENE FAMILY; MYOTONIC DYSTROPHY; PATHOGENICITY; RNA STRUCTURE; SYSTEMIC DISEASE; TISSUE SPECIFICITY;

EID: 17744416456     PISSN: 09365931     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (31)

1. Amack JD, Paguio AP, Mahadevan MS (1999) Cis and trans effects of myotonic dystrophy (DM) mutation in a cell culture model. Hum. Mol. Genet. 8:1975-1984
2. Brook JD, McCurrach ME, Harley HG, Buckler AJ, Church D, Aburatani H, Hunter K, Stanton VP, Thirion JP, Hudson T, Sohn R, Zemelman B, Snell RG, Rundle SA, Crow S, Davies J, Shelbourne P, Buxton J, Jones C, Juvonen V, Johnson K, Harper PS, Shaw DJ, Housman DE (1992) Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3-prime end of a transcript encoding a protein kinase family member. Cell 68:799-808
3. Buj-Bello A, Furling D, Tronchère 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
4. Cartegni L, Chew SL, Krainer AR (2002) Listening to silence and understanding nonsense: exon mutations that affect slicing. Nature Reviews 3: 285-298
5. Charlet-B N, Savkur RS, Singh G, Philips AV, Grice EA, Cooper TA (2002) Loss of muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing. Molecular Cell 10:45-53
6. 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
7. Fu YH, Friedman DL, Richards S, Pearlman JA, Gibbs RA, Pizzuti A, Ashizawa T, Perryman MB, Scarlato G, Fenwick RG, et al. (1993) Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy. Science 260:235-238
8. 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
9. Goedert M, Spillantini MG, Jakes R, Rutherford D, Crowther RA (1989) Multiple isoforms of human microtubule-associated protein tau: sequences and localization in neurofibrillary tangles of Alzheimer's disease. Neuron 3:519-526
10. Harper PS (2001) Myotonic Dystrophy, Volume 37, Third Edition, London: WB Saunders
11. Harvey B, Sarnat MD, Shirley W, Silbert MD (1976) Maturational arrest of fetal muscle in neonatal myotonic dystrophy. Arch. Neurol. 33:466-474
12. Jansen G, Gronen PJ, Baechner D, Jap PH, Coerwinkel M, Oerlemans F, van den Broek W, Gohlsch B, Pette D, Plomp JJ et al. (1996) Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice. Nat. Genet. 13:316-324
13. Klesert TR, Otten AD, Bird TD, Tapscott SJ (1997) Trinucleotide repeat expansion at myotonic dystrophy locus reduces expression of DMAHP. Nat. Genet. 16:402-406
14. 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
15. Ladd AN, Charlet-B N, 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
16. Liquori CL, Ricker K, Moseley ML, Jacobsen JF, Kress W, Naylor SL, Day JW, Ranum LPW (2001) Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science 293:864-867.
17. 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
18. 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
19. 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
20. Moller DE, Yokota A, Caro JF, Flier JS (1989) Tissue specific expression of two alternatively spliced insulin receptor mRNAs in man. Mol. Endocrinol. 3:1263-1269
21. Online Mendelian Inheritance in Man, OMIM (TM). McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD), 2000. World Wide Web URL: http://www.ncbi.nlm.nih.gov/omim/
22. Philips AV, Timchenko LT, Cooper TA (1998) Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy. Science 280:737-741
23. Ryan KJ, Charlet-B N, Cooper A (2000) Binding of PurH to a muscle-specific splicing enhancer functionally correlates with exon inclusion in vivo. J. Biol Chem. 27:20618-20626
24. Savkur RS, Philips AV, Cooper TA (2001) Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy. Nat. Genet. 29:40-47
25. Seino S, Bell GI (1989) Alternative splicing of human insulin receptor messenger RNA. Biochem. Biophys. Res. Commun. 159:312-316
26. Sergeant N, Sablonniére 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
27. Tapscott SJ, Thornton CA (2001) Reconstructing myotonic dystrophy. Science 293:816-817
28. 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 Biol. 128:995-1002
29. Timchenko NA, Cai ZJ, Welm AL, Reddy S, Ashizawa T, Timchenko LT (2001) RNA CUG repeats sequester CUGBP1 and alter protein levels and activity of CUGBP1. J. Biol Chem. 276;7820-7826
30. Timchenko NA, lakova P, Cai ZJ, Smith JR, Timchenko LT (2001) Molecular basis for impaired muscle differentiation in myotonic dystrophy. Mol. Cell Biol. 21:6927-6938
31. Vogt B, Carrascosa JM, Ermel B, Ullrich A, Häring HU (1991) The two isotypes of the human insulin receptor (HIR-A and HIR-B) follow different internalization kinetics. Biochem. Biophys. Res. Commun. 177:1013-1018