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Crystal structures of CGG RNA repeats with implications for fragile X-associated tremor ataxia syndrome.

Kiliszek A, Kierzek R, Krzyzosiak WJ, Rypniewski W
Nucleic Acids Res 39 7308-15 (2011)
Related entries: 3r1d, 3r1e

Cited: 42 times
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Abstract

The CGG repeats are present in the 5'-untranslated region (5'-UTR) of the fragile X mental retardation gene FMR1 and are associated with two diseases: fragile X-associated tremor ataxia syndrome (FXTAS) and fragile X syndrome (FXS). FXTAS occurs when the number of repeats is 55-200 and FXS develops when the number exceeds 200. FXTAS is an RNA-mediated disease in which the expanded CGG tracts form stable structures and sequester important RNA binding proteins. We obtained and analysed three crystal structures of double-helical CGG repeats involving unmodified and 8-Br modified guanosine residues. Despite the presence of the non-canonical base pairs, the helices retain an A-form. In the G-G pairs one guanosine is always in the syn conformation, the other is anti. There are two hydrogen bonds between the Watson-Crick edge of G(anti) and the Hoogsteen edge of G(syn): O6·N1H and N7·N2H. The G(syn)-G(anti) pair shows affinity for binding ions in the major groove. G(syn) causes local unwinding of the helix, compensated elsewhere along the duplex. CGG helical structures appear relatively stable compared with CAG and CUG tracts. This could be an important factor in the RNA's ligand binding affinity and specificity.

Reviews - 3r1c mentioned but not cited (1)

  1. Structural studies of CNG repeats. Kiliszek A, Rypniewski W. Nucleic Acids Res 42 8189-8199 (2014)

Articles - 3r1c mentioned but not cited (5)

  1. Crystal structures of CGG RNA repeats with implications for fragile X-associated tremor ataxia syndrome. Kiliszek A, Kierzek R, Krzyzosiak WJ, Rypniewski W. Nucleic Acids Res 39 7308-7315 (2011)
  2. Structure and Dynamics of DNA and RNA Double Helices Obtained from the GGGGCC and CCCCGG Hexanucleotide Repeats That Are the Hallmark of C9FTD/ALS Diseases. Zhang Y, Roland C, Sagui C. ACS Chem Neurosci 8 578-591 (2017)
  3. Structural and Dynamical Characterization of DNA and RNA Quadruplexes Obtained from the GGGGCC and GGGCCT Hexanucleotide Repeats Associated with C9FTD/ALS and SCA36 Diseases. Zhang Y, Roland C, Sagui C. ACS Chem Neurosci 9 1104-1117 (2018)
  4. Structure and Dynamics of DNA and RNA Double Helices Obtained from the CCG and GGC Trinucleotide Repeats. Pan F, Man VH, Roland C, Sagui C. J Phys Chem B 122 4491-4512 (2018)
  5. Secondary structural choice of DNA and RNA associated with CGG/CCG trinucleotide repeat expansion rationalizes the RNA misprocessing in FXTAS. Ajjugal Y, Kolimi N, Rathinavelan T. Sci Rep 11 8163 (2021)


Reviews citing this publication (11)

  1. MBNL proteins and their target RNAs, interaction and splicing regulation. Konieczny P, Stepniak-Konieczna E, Sobczak K. Nucleic Acids Res 42 10873-10887 (2014)
  2. Repeat associated non-ATG (RAN) translation: new starts in microsatellite expansion disorders. Cleary JD, Ranum LP. Curr Opin Genet Dev 26 6-15 (2014)
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  4. RAN translation-What makes it run? Green KM, Linsalata AE, Todd PK. Brain Res 1647 30-42 (2016)
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  6. Structural Characteristics of Simple RNA Repeats Associated with Disease and their Deleterious Protein Interactions. Ciesiolka A, Jazurek M, Drazkowska K, Krzyzosiak WJ. Front Cell Neurosci 11 97 (2017)
  7. RAN translation and frameshifting as translational challenges at simple repeats of human neurodegenerative disorders. Wojciechowska M, Olejniczak M, Galka-Marciniak P, Jazurek M, Krzyzosiak WJ. Nucleic Acids Res 42 11849-11864 (2014)
  8. Structures of RNA repeats associated with neurological diseases. Błaszczyk L, Rypniewski W, Kiliszek A. Wiley Interdiscip Rev RNA 8 (2017)
  9. Molecular Pathophysiology of Fragile X-Associated Tremor/Ataxia Syndrome and Perspectives for Drug Development. Botta-Orfila T, Tartaglia GG, Michalon A. Cerebellum 15 599-610 (2016)
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  11. In silico, in vitro, and in vivo Approaches to Identify Molecular Players in Fragile X Tremor and Ataxia Syndrome. Haify SN, Botta-Orfila T, Hukema RK, Tartaglia GG. Front Mol Biosci 7 31 (2020)

Articles citing this publication (25)

  1. A superfolding Spinach2 reveals the dynamic nature of trinucleotide repeat-containing RNA. Strack RL, Disney MD, Jaffrey SR. Nat Methods 10 1219-1224 (2013)
  2. Sequestration of DROSHA and DGCR8 by expanded CGG RNA repeats alters microRNA processing in fragile X-associated tremor/ataxia syndrome. Sellier C, Freyermuth F, Tabet R, Tran T, He F, Ruffenach F, Alunni V, Moine H, Thibault C, Page A, Tassone F, Willemsen R, Disney MD, Hagerman PJ, Todd PK, Charlet-Berguerand N. Cell Rep 3 869-880 (2013)
  3. The structural basis of actinomycin D-binding induces nucleotide flipping out, a sharp bend and a left-handed twist in CGG triplet repeats. Lo YS, Tseng WH, Chuang CY, Hou MH. Nucleic Acids Res 41 4284-4294 (2013)
  4. Distinctive structural motifs of RNA G-quadruplexes composed of AGG, CGG and UGG trinucleotide repeats. Malgowska M, Gudanis D, Kierzek R, Wyszko E, Gabelica V, Gdaniec Z. Nucleic Acids Res 42 10196-10207 (2014)
  5. Trinucleotide repeats: a structural perspective. Almeida B, Fernandes S, Abreu IA, Macedo-Ribeiro S. Front Neurol 4 76 (2013)
  6. Modifications to toxic CUG RNAs induce structural stability, rescue mis-splicing in a myotonic dystrophy cell model and reduce toxicity in a myotonic dystrophy zebrafish model. deLorimier E, Coonrod LA, Copperman J, Taber A, Reister EE, Sharma K, Todd PK, Guenza MG, Berglund JA. Nucleic Acids Res 42 12768-12778 (2014)
  7. Crystallographic characterization of CCG repeats. Kiliszek A, Kierzek R, Krzyzosiak WJ, Rypniewski W. Nucleic Acids Res 40 8155-8162 (2012)
  8. Structural characterization of a dimer of RNA duplexes composed of 8-bromoguanosine modified CGG trinucleotide repeats: a novel architecture of RNA quadruplexes. Gudanis D, Popenda L, Szpotkowski K, Kierzek R, Gdaniec Z. Nucleic Acids Res 44 2409-2416 (2016)
  9. Why are Hoogsteen base pairs energetically disfavored in A-RNA compared to B-DNA? Rangadurai A, Zhou H, Merriman DK, Meiser N, Liu B, Shi H, Szymanski ES, Al-Hashimi HM. Nucleic Acids Res 46 11099-11114 (2018)
  10. SMMRNA: a database of small molecule modulators of RNA. Mehta A, Sonam S, Gouri I, Loharch S, Sharma DK, Parkesh R. Nucleic Acids Res 42 D132-41 (2014)
  11. Structure and Dynamics of DNA and RNA Double Helices of CAG and GAC Trinucleotide Repeats. Pan F, Man VH, Roland C, Sagui C. Biophys J 113 19-36 (2017)
  12. The Rpe65 rd12 allele exerts a semidominant negative effect on vision in mice. Wright CB, Chrenek MA, Feng W, Getz SE, Duncan T, Pardue MT, Feng Y, Redmond TM, Boatright JH, Nickerson JM. Invest Ophthalmol Vis Sci 55 2500-2515 (2014)
  13. CGG Repeats in the 5'UTR of FMR1 RNA Regulate Translation of Other RNAs Localized in the Same RNA Granules. Rovozzo R, Korza G, Baker MW, Li M, Bhattacharyya A, Barbarese E, Carson JH. PLoS One 11 e0168204 (2016)
  14. Structural insights into synthetic ligands targeting A-A pairs in disease-related CAG RNA repeats. Mukherjee S, Błaszczyk L, Rypniewski W, Falschlunger C, Micura R, Murata A, Dohno C, Nakatani K, Kiliszek A. Nucleic Acids Res 47 10906-10913 (2019)
  15. The binding of the Co(II) complex of dimeric chromomycin A3 to GC sites with flanking G:G mismatches. Chen YW, Hou MH. J Inorg Biochem 121 28-36 (2013)
  16. Watson-Crick-like pairs in CCUG repeats: evidence for tautomeric shifts or protonation. Rypniewski W, Banaszak K, Kuliński T, Kiliszek A. RNA 22 22-31 (2016)
  17. Atypical structures of GAA/TTC trinucleotide repeats underlying Friedreich's ataxia: DNA triplexes and RNA/DNA hybrids. Zhang J, Fakharzadeh A, Pan F, Roland C, Sagui C. Nucleic Acids Res 48 9899-9917 (2020)
  18. Structure Validation of G-Rich RNAs in Noncoding Regions of the Human Genome. Binas O, Bessi I, Schwalbe H. Chembiochem 21 1656-1663 (2020)
  19. BC RNA Mislocalization in the Fragile X Premutation. Muslimov IA, Eom T, Iacoangeli A, Chuang SC, Hukema RK, Willemsen R, Stefanov DG, Wong RKS, Tiedge H. eNeuro 5 ENEURO.0091-18.2018 (2018)
  20. Cyclic mismatch binding ligands interact with disease-associated CGG trinucleotide repeats in RNA and suppress their translation. Konieczny P, Mukherjee S, Stepniak-Konieczna E, Taylor K, Niewiadomska D, Piasecka A, Walczak A, Baud A, Dohno C, Nakatani K, Sobczak K. Nucleic Acids Res 49 9479-9495 (2021)
  21. Molecular insights into the interaction of CAG trinucleotide RNA repeats with nucleolin and its implication in polyglutamine diseases. An Y, Chen ZS, Chan HYE, Ngo JCK. Nucleic Acids Res 50 7655-7668 (2022)
  22. A Structural Potential of Rare Trinucleotide Repeat Tracts in RNA. Magner D, Nowak R, Lenartowicz Onyekaa E, Pasternak A, Kierzek R. Int J Mol Sci 23 5850 (2022)
  23. A recurrent 8 bp frameshifting indel in FOXF1 defines a novel mutation hotspot associated with alveolar capillary dysplasia with misalignment of pulmonary veins. Karolak JA, Bacolla A, Liu Q, Lantz PE, Petty J, Trapane P, Panzer K, Totapally BR, Niu Z, Xiao R, Xie NG, Wu LR, Szafranski P, Zhang DY, Stankiewicz P. Am J Med Genet A 179 2272-2276 (2019)
  24. Diagrammatic approaches to RNA structures with trinucleotide repeats. Mak CH, Phan ENH. Biophys J 120 2343-2354 (2021)
  25. Structure and thermodynamics of a UGG motif interacting with Ba2+ and other metal ions: accommodating changes in the RNA structure and the presence of a G(syn)-G(syn) pair. Kiliszek A, Pluta M, Bejger M, Rypniewski W. RNA rna.079414.122 (2022)


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