1,410
Views
33
CrossRef citations to date
0
Altmetric
Review

CAG repeat RNA as an auxiliary toxic agent in polyglutamine disorders

&
Pages 565-571 | Received 09 Feb 2011, Accepted 04 Mar 2011, Published online: 01 Jul 2011

References

  • Jasinska A, Krzyzosiak WJ. Repetitive sequences that shape the human transcriptome. FEBS Lett 2004; 567:136 - 141
  • Jasinska A, Michlewski G, de Mezer M, Sobczak K, Kozlowski P, Napierala M, et al. Structures of trinucleotide repeats in human transcripts and their functional implications. Nucleic Acids Res 2003; 31:5463 - 5468
  • Kozlowski P, de Mezer M, Krzyzosiak WJ. Trinucleotide repeats in human genome and exome. Nucleic Acids Res 2010; 38:4027 - 4039
  • Mirkin SM. Expandable DNA repeats and human disease. Nature 2007; 447:932 - 940
  • Lopez Castel A, Cleary JD, Pearson CE. Repeat instability as the basis for human diseases and as a potential target for therapy. Nat Rev Mol Cell Biol 2010; 11:165 - 170
  • Orr HT, Zoghbi HY. Trinucleotide repeat disorders. Annu Rev Neurosci 2007; 30:575 - 621
  • Todd PK, Paulson HL. RNA-mediated neurodegeneration in repeat expansion disorders. Ann Neurol 2010; 67:291 - 300
  • Nakamori M, Thornton C. Epigenetic changes and non-coding expanded repeats. Neurobiol Dis 2010; 39:21 - 27
  • Liquori CL, Ricker K, Moseley ML, Jacobsen JF, Kress W, Naylor SL, et al. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science 2001; 293:864 - 867
  • Matsuura T, Fang P, Lin X, Khajavi M, Tsuji K, Rasmussen A, et al. Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10. Am J Hum Genet 2004; 74:1216 - 1224
  • Sato N, Amino T, Kobayashi K, Asakawa S, Ishiguro T, Tsunemi T, et al. Spinocerebellar ataxia type 31 is associated with “inserted” penta-nucleotide repeats containing (TGGAA)n. Am J Hum Genet 2009; 85:544 - 557
  • Ranum LP, Cooper TA. RNA-mediated neuromuscular disorders. Annu Rev Neurosci 2006; 29:259 - 277
  • Sellier C, Rau F, Liu Y, Tassone F, Hukema RK, Gattoni R, et al. Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients. EMBO J 2010; 29:1248 - 1261
  • Daughters RS, Tuttle DL, Gao W, Ikeda Y, Moseley ML, Ebner TJ, et al. RNA gain-of-function in spinocerebellar ataxia type 8. PLoS Genet 2009; 5:1000600
  • Rudnicki DD, Holmes SE, Lin MW, Thornton CA, Ross CA, Margolis RL. Huntington's disease—like 2 is associated with CUG repeat-containing RNA foci. Ann Neurol 2007; 61:272 - 282
  • Margolis JM, Schoser BG, Moseley ML, Day JW, Ranum LP. DM2 intronic expansions: evidence for CCUG accumulation without flanking sequence or effects on ZNF9 mRNA processing or protein expression. Hum Mol Genet 2006; 15:1808 - 1815
  • White MC, Gao R, Xu W, Mandal SM, Lim JG, Hazra TK, et al. Inactivation of hnRNP K by expanded intronic AUUCU repeat induces apoptosis via translocation of PKCdelta to mitochondria in spinocerebellar ataxia 10. PLoS Genet 2010; 6:1000984
  • Amack JD, Paguio AP, Mahadevan MS. Cis and trans effects of the myotonic dystrophy (DM) mutation in a cell culture model. Hum Mol Genet 1999; 8:1975 - 1984
  • Davis BM, McCurrach ME, Taneja KL, Singer RH, Housman DE. 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 USA 1997; 94:7388 - 7393
  • Mankodi A, Logigian E, Callahan L, McClain C, White R, Henderson D, et al. Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat. Science 2000; 289:1769 - 1773
  • de Mezer M, Wojciechowska M, Napierala M, Sobczak K, Krzyzosiak WJ. Mutant CAG repeats of Huntingtin transcript fold into hairpins, form nuclear foci and are targets for RNA interference. Nucleic Acids Res 2011; 39:3852 - 3863
  • Ho TH, Savkur RS, Poulos MG, Mancini MA, Swanson MS, Cooper TA. Colocalization of muscle-blind with RNA foci is separable from mis-regulation of alternative splicing in myotonic dystrophy. J Cell Sci 2005; 118:2923 - 2933
  • Li LB, Yu Z, Teng X, Bonini NM. RNA toxicity is a component of ataxin-3 degeneration in Drosophila. Nature 2008; 453:1107 - 1111
  • Wang LC, Chen KY, Pan H, Wu CC, Chen PH, Liao YT, et al. Muscleblind participates in RNA toxicity of expanded CAG and CUG repeats in Caenorhabditis elegans. Cell Mol Life Sci 2010; 68:1255 - 1267
  • Hsu RJ, Hsiao KM, Lin MJ, Li CY, Wang LC, Chen LK, et al. Long tract of untranslated CAG repeats is deleterious in transgenic mice. PLoS One 2011; 6:16417
  • Philips AV, Timchenko LT, Cooper TA. Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy. Science 1998; 280:737 - 741
  • 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
  • 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
  • Jiang H, Mankodi A, Swanson MS, Moxley RT, Thornton CA. 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 2004; 13:3079 - 3088
  • Michlewski G, Krzyzosiak WJ. Molecular architecture of CAG repeats in human disease related transcripts. J Mol Biol 2004; 340:665 - 679
  • Sobczak K, Krzyzosiak WJ. Imperfect CAG repeats form diverse structures in SCA1 transcripts. J Biol Chem 2004; 279:41563 - 1572
  • Sobczak K, Krzyzosiak WJ. CAG repeats containing CAA interruptions form branched hairpin structures in spinocerebellar ataxia type 2 transcripts. J Biol Chem 2005; 280:3898 - 3910
  • O'Donnell WT, Warren ST. A decade of molecular studies of fragile X syndrome. Annu Rev Neurosci 2002; 25:315 - 338
  • Campuzano V, Montermini L, Lutz Y, Cova L, Hindelang C, Jiralerspong S, et al. Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes. Hum Mol Genet 1997; 6:1771 - 1780
  • Miller JW, Urbinati CR, Teng-Umnuay P, Stenberg MG, Byrne BJ, Thornton CA, et al. Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy. EMBO J 2000; 19:4439 - 4448
  • Zu T, Gibbens B, Doty NS, Gomes-Pereira M, Huguet A, Stone MD, et al. Non-ATG-initiated translation directed by microsatellite expansions. Proc Natl Acad Sci USA 2011; 108:260 - 265
  • Brook JD, McCurrach ME, Harley HG, Buckler AJ, Church D, Aburatani H, 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 1992; 68:799 - 808
  • Osborne RJ, Thornton CA. RNA-dominant diseases. Hum Mol Genet 2006; 15:162 - 169
  • Wheeler TM, Lueck JD, Swanson MS, Dirksen RT, Thornton CA. Correction of ClC-1 splicing eliminates chloride channelopathy and myotonia in mouse models of myotonic dystrophy. J Clin Invest 2007; 117:3952 - 3957
  • Cooper TA, Wan L, Dreyfuss G. RNA and disease. Cell 2009; 136:777 - 793
  • Taneja KL, McCurrach M, Schalling M, Housman D, Singer RH. Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues. J Cell Biol 1995; 128:995 - 1002
  • Fardaei M, Larkin K, Brook JD, Hamshere MG. In vivo co-localisation of MBNL protein with DMPK expanded-repeat transcripts. Nucleic Acids Res 2001; 29:2766 - 2771
  • Mankodi A, Urbinati CR, Yuan QP, Moxley RT, Sansone V, Krym M, et al. Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2. Hum Mol Genet 2001; 10:2165 - 2170
  • Timchenko LT, Miller JW, Timchenko NA, DeVore DR, Datar KV, Lin L, et al. Identification of a (CUG) (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy. Nucleic Acids Res 1996; 24:4407 - 4414
  • Timchenko LT, Timchenko NA, Caskey CT, Roberts R. Novel proteins with binding specificity for DNA CTG repeats and RNA CUG repeats: implications for myotonic dystrophy. Hum Mol Genet 1996; 5:115 - 121
  • Timchenko NA, Cai ZJ, Welm AL, Reddy S, Ashizawa T, Timchenko LT. RNA CUG repeats sequester CUGBP1 and alter protein levels and activity of CUGBP1. J Biol Chem 2001; 276:7820 - 7826
  • Kuyumcu-Martinez NM, Wang GS, Cooper TA. Increased steady-state levels of CUGBP1 in myotonic dystrophy 1 are due to PKC-mediated hyperphosphorylation. Mol Cell 2007; 28:68 - 78
  • Kimura T, Nakamori M, Lueck JD, Pouliquin P, Aoike F, Fujimura H, et al. Altered mRNA splicing of the skeletal muscle ryanodine receptor and sarcoplasmic/ endoplasmic reticulum Ca2+-ATPase in myotonic dystrophy type 1. Hum Mol Genet 2005; 14:2189 - 2200
  • 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
  • Ho TH, Bundman D, Armstrong DL, Cooper TA. Transgenic mice expressing CUG-BP1 reproduce splicing mis-regulation observed in myotonic dystrophy. Hum Mol Genet 2005; 14:1539 - 1547
  • Iwahashi CK, Yasui DH, An HJ, Greco CM, Tassone F, Nannen K, et al. Protein composition of the intranuclear inclusions of FXTAS. Brain 2006; 129:256 - 271
  • Berman RF, Willemsen R. Mouse models of fragile x-associated tremor ataxia. J Investig Med 2009; 57:837 - 841
  • Brouwer JR, Huizer K, Severijnen LA, Hukema RK, Berman RF, Oostra BA, et al. CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated tremor/ataxia syndrome. J Neurochem 2008; 107:1671 - 1682
  • Jin P, Duan R, Qurashi A, Qin Y, Tian D, Rosser TC, et al. Pur alpha binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of fragile X tremor/ataxia syndrome. Neuron 2007; 55:556 - 564
  • Jin P, Zarnescu DC, Zhang F, Pearson CE, Lucchesi JC, Moses K, et al. RNA-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in Drosophila. Neuron 2003; 39:739 - 747
  • Greco CM, Hagerman RJ, Tassone F, Chudley AE, Del Bigio MR, Jacquemont S, et al. Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers. Brain 2002; 125:1760 - 1771
  • Greco CM, Berman RF, Martin RM, Tassone F, Schwartz PH, Chang A, et al. Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS). Brain 2006; 129:243 - 255
  • Li H, Li SH, Johnston H, Shelbourne PF, Li XJ. Amino-terminal fragments of mutant huntingtin show selective accumulation in striatal neurons and synaptic toxicity. Nat Genet 2000; 25:385 - 389
  • Sofola OA, Jin P, Qin Y, Duan R, Liu H, de Haro M, et al. RNA-binding proteins hnRNP A2/B1 and CUGBP1 suppress fragile X CGG premutation repeat-induced neurodegeneration in a Drosophila model of FXTAS. Neuron 2007; 55:565 - 571
  • Koob MD, Moseley ML, Schut LJ, Benzow KA, Bird TD, Day JW, et al. An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8). Nat Genet 1999; 21:379 - 384
  • Moseley ML, Zu T, Ikeda Y, Gao W, Mosemiller AK, Daughters RS, et al. Bidirectional expression of CUG and CAG expansion transcripts and intranuclear poly-glutamine inclusions in spinocerebellar ataxia type 8. Nat Genet 2006; 38:758 - 769
  • Dhaenens CM, Schraen-Maschke S, Tran H, Vingtdeux V, Ghanem D, Leroy O, et al. Overexpression of MBNL1 fetal isoforms and modified splicing of Tau in the DM1 brain: two individual consequences of CUG trinucleotide repeats. Exp Neurol 2008; 210:467 - 478
  • Arrasate M, Mitra S, Schweitzer ES, Segal MR, Finkbeiner S. Inclusion body formation reduces levels of mutant huntingtin and the risk of neuronal death. Nature 2004; 431:805 - 810
  • Miller J, Arrasate M, Shaby BA, Mitra S, Masliah E, Finkbeiner S. Quantitative relationships between huntingtin levels, polyglutamine length, inclusion body formation and neuronal death provide novel insight into Huntington's disease molecular pathogenesis. J Neurosci 30:10541 - 10550
  • Wakamiya M, Matsuura T, Liu Y, Schuster GC, Gao R, Xu W, et al. The role of ataxin 10 in the pathogenesis of spinocerebellar ataxia type 10. Neurology 2006; 67:607 - 613
  • Mankodi A, Teng-Umnuay P, Krym M, Henderson D, Swanson M, Thornton CA. Ribonuclear inclusions in skeletal muscle in myotonic dystrophy types 1 and 2. Ann Neurol 2003; 54:760 - 768
  • Napierala M, Krzyzosiak WJ. CUG repeats present in myotonin kinase RNA form metastable “slippery” hairpins. J Biol Chem 1997; 272:31079 - 31085