Human genetics '99: Trinucleotide repeats: Myotonic dystrophy: The role of RNA CUG triplet repeats

American Journal of Human Genetics

Volumn 64, Issue 2, 1999, Pages 360-364

  Timchenko, Lubov T ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CUGBP1 PROTEIN, HUMAN; RIBONUCLEOPROTEIN; RNA; RNA BINDING PROTEIN;

ANIMAL; GENETICS; HUMAN; METABOLISM; MYOTONIC DYSTROPHY; PHYSIOLOGY; PROTEIN SYNTHESIS; REVIEW; TRINUCLEOTIDE REPEAT;

ANIMALS; HUMANS; MYOTONIC DYSTROPHY; PROTEIN BIOSYNTHESIS; RIBONUCLEOPROTEINS; RNA; RNA-BINDING PROTEINS; TRINUCLEOTIDE REPEATS;

EID: 0033073594     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302268     Document Type: Article

References (34)

1. Aslanidis C, Jansen G, Amemiya C, Shutler G, Mahadevan M, Tsilfidis C, Chen C, et al (1992) Cloning of the essential myotonic dystrophy region and mapping of the putative defect. Nature 355:548-551
2. Bell LR, Horabin JI, Schedl P, Cline TW (1991) Positive autoregulation of Sex-lethal by alternative splicing maintains the female determined state in Drosophila. Cell 65:229-239
3. Bhagwati S, Ghatpande A, Leung B (1996) Identification of two nuclear proteins which bind to RNA CUG repeats: significance for myotonic dystrophy. Biochem Biophys Res Commun 228:55-62
4. Boucher, CA, King SK, Carey N, Krahe R, Winchester CL, Rahman S, Creavin T, et al (1995) A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat. Hum Mol Genet 4:1919-1925
5. Brook JD, McCurrach ME, Harley HG, Buckler AJ, Church D, Aburatani H, Hunter K, et al (1992) Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of the transcript encoding a protein kinase family member. Cell 68:799-808
6. Bush EW, Taft CS, Meixell GE, Perryman MB (1996) Over-expression of myotonic dystrophy kinase in BC3H1 cells induces the skeletal muscle phenotype. J Biol Chem 271: 548-552
7. Buxton J, Shelbourne P, Davies J, Jones C, Van Tongeren T, Aslanidis C, de Jong P, et al (1992) Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. Nature 355:547-548
8. Caskey CT, Swanson MS, Timchenko LT (1996) Myotonic dystrophy: discussion of molecular mechanism. Cold Spring Harbor Symp Quant Biol 61:607-614
9. Descombes P, Schibler U (1991) A liver-enriched transcriptional activator protein, LAP, and a transcriptional inhibitory protein, LIP, are translated form the same mRNA. Cell 67:569-579
10. Fu Y-H, Friedman DL, Richards S, Pearlman JA, Gibbs RA, Pizzuti A, Ashizawa T, et al (1993) Decreased expression of myotonin protein kinase mRNA and protein in adult form of myotonic dystrophy. Science 260:235-238
11. Fu Y-H, Pizzuti A, Fenwick RG, King G, Rajnarayan S, Dunne PW, Dubel J, et al (1992) An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 255: 1256-1258
12. Harley HG, Brook JD, Rundle SA, Crow S, Reardon W, Buckler AJ, Harper PS, et al (1992) Expansion of an unstable DNA region phenotypic variations in myotonic dystrophy. Nature 355:545-546
13. Harper PS (1995) Myotonic dystrophy and other autosomal muscular dystrophies. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, pp 4227-4251
14. Jansen G, Groenen PJTA, Bacher D, Jap PHK, Coerwinkel M, Oerlemans F, van den Broek W, et al (1996) Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice. Nat Genet 13:316-324
15. Koob MD, Moseley ML, Benzow KA, Peterson CF, Day JW, Bird TD, Schut LJ, et al (1998) A 3′ untranslated CTG repeat causes spinocerebellar ataxia type 8 (SCA 8). Am J Hum Genet Suppl 63:A39
16. Krahe R, Ashizawa T, Abbruzzese C, Roeder E, Carango P, Giacanelli M, Funanage V, et al (1995) Effect of myotonic dystrophy trinucleotide repeat expansion on DMPK transcription and processing. Genomics 28:1-14
17. Levine TD, Gao F, King PH, Andrews LG, Keene JD (1993) Hel-N1: an autoimmune RNA-binding protein with specificity for 3′ uridylate-rich untranslated regions of growth factor mRNAs. Mol Cell Biol 13:3494-3504
18. Lu X, Timchenko NA, Timchenko LT (1999) Cardiac elavtype RNA-binding protein (ETR-3) binds to RNA CUG triplet repeats expanded in myotonic dystrophy. Hum Mol Genet 8:53-60
19. Mahadevan MS, Tsilfidis C, Sabourin L, Shutler G, Amemiya C, Jansen G, Neville C, et al (1992) Myotonic dystrophy mutation: an unstable CTG repeat in the 3′ untranslated region of the gene. Science 255:1253-1255
20. Morrone A, Pegoraro E, Angelini C, Zammarchi E, Marconi G, Hoffman EP (1997) RNA metabolism in myotonic dystrophy: patient muscle shows decreased insulin receptor RNA and protein consistent with abnormal insulin resistance. J Clin Invest 99:1691-1698
21. Myer VE, Fan XC, Steitz JA (1997) Identification of HuR as a protein implicated in AUUUA-mediated mRNA decay. EMBO J 16:2130-2139
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. Ranum LPW, Rasmussen PF, Benzow KA, Koob MD, Day JW (1998) Genetic mapping of a second myotonic dystrophy locus. Nat Genet 19:196-198
24. Rastinejad F, Blau HM (1993) Genetic complementation reveals a novel regulatory role for 3′ untranslated regions in growth and differentiation. Cell 72:903-917
25. Reddy S, Smith DBJ, Rich MM, Leferovich JM, Reilly P, Davis BM, Tran K, et al (1996) Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy. Nat Genet 13:325-335
26. Roberts R, Timchenko NA, Miller JW, Reddy S, Caskey CT, Swanson MS, Timchenko LT (1997) Altered phosphorylation and intracellular distribution of a (CUG)n triplet repeat RNA-binding protein in patients with myotonic dystrophy and in myotonic protein kinase knock out mice. Proc Natl Acad Sci USA 94:13221-13226
27. Sabourin LA, Tamai K, Narang MA, Korneluk RG (1997) Overexpression of 3′-untranslated region of the myotonic dystrophy kinase cDNA inhibits differentiation in vitro. J Biol Chem 272:29626-29635
28. Steinbach P, Glaser D, Vogel W, Wolf M, Schwemmle S (1998) The DMPK gene of severely affected myotonic dystrophy patients is hypermethylated proximal to the largely expanded CTG repeat. Am J Hum Genet 62:278-285
29. Tapscott SJ, Klesert TR, Widrow RJ, Stoger R, Laird CD (1998) Fragile-X syndrome and myotonic dystrophy: parallels and paradoxes. Curr Opin Genet Dev 8:245-253
30. Timchenko LT, Lu X, Roberts R, Timchenko NA (1998) Myotonic dystrophy: gain of function of RNA (CUG) triplet repeat binding proteins. Am J Hum Genet Suppl 63:A32
31. Timchenko I.T, Miller JW, Timchenko NA, DeVore DR, Datar KV, Lin L, Roberts R, et al (1996a) Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy. Nucleic Acids Res 24: 4407-4414
32. Timchenko L, Monckton DG, Caskey CT (1995) Myotonic dystrophy: an unstable repeat in a protein kinase gene. Sem Cell Biol 6:13-19
33. Timchenko LT, Timchenko NA, Caskey CT, Roberts R (1996b) Novel proteins with binding specificity for DNA CTG and RNA CUG repeats: implications for myotonic dystrophy. Hum Mol Genet 5:115-121
34. Wang J, Pegoraro E, Menegazzo E, Gennarelli M, Hoop RC, Angelini C, Huffman EP (1995) Myotonic dystrophy: evidence for a possible dominant-negative RNA mutation. Hum Mol Genet 4:599-606