Destabilization of tetraplex structures of the fragile X repeat sequence (CGG)n is mediated by homolog-conserved domains in three members of the hnRNP family

Nucleic Acids Research

Volumn 32, Issue 14, 2004, Pages 4145-4154

  Khateb, Samer ^b   Weisman Shomer, Pnina ^b   Hershco, Inbal ^b   Loeb, Lawrence A ^a   Fry, Michael ^b  

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^b TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATE; CYTOSINE; DNA; GUANINE; GUANOSINE TRIPHOSPHATE; HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN; MUTANT PROTEIN; RNA; TRANSCRIPTION FACTOR RUNX1; FRAGILE X MENTAL RETARDATION PROTEIN; HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN A2 B1; HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN A2-B1; HNRNP A1; NERVE PROTEIN; QUADRUPLEX DNA; RNA BINDING PROTEIN;

ANIMAL CELL; ARTICLE; CARBOXY TERMINAL SEQUENCE; CONTROLLED STUDY; DNA STRUCTURE; FRAGILE X SYNDROME; GENETIC CONSERVATION; GENETIC STABILITY; HUMAN; HUMAN CELL; NONHUMAN; NUCLEIC ACID STRUCTURE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN FAMILY; PROTEIN MOTIF; RNA STRUCTURE; TRINUCLEOTIDE REPEAT; WILD TYPE; AMINO ACID SEQUENCE; BINDING SITE; CHEMISTRY; CONFORMATION; GENETICS; METABOLISM; MOLECULAR GENETICS; NUCLEOTIDE REPEAT; NUCLEOTIDE SEQUENCE; PROTEIN TERTIARY STRUCTURE; RNA STABILITY; SEQUENCE HOMOLOGY;

ADENOSINE TRIPHOSPHATE; AMINO ACID MOTIFS; AMINO ACID SEQUENCE; BINDING SITES; CONSERVED SEQUENCE; DNA; FRAGILE X MENTAL RETARDATION PROTEIN; GUANOSINE TRIPHOSPHATE; HETEROGENEOUS-NUCLEAR RIBONUCLEOPROTEIN GROUP A-B; MOLECULAR SEQUENCE DATA; NERVE TISSUE PROTEINS; NUCLEIC ACID CONFORMATION; PROTEIN STRUCTURE, TERTIARY; REPETITIVE SEQUENCES, NUCLEIC ACID; RNA; RNA STABILITY; RNA-BINDING PROTEINS; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 4043172851     PISSN: 03051048     EISSN: None     Source Type: Journal    
DOI: 10.1093/nar/gkh745     Document Type: Article

References (44)

1. Simonsson,T. (2001) G-quadruplex DNA structures - variations on a theme. Biol. Chem., 382, 621-628.
2. Arthanari,H. and Bolton,P.H. (2001) Functional and dysfunctional roles of quadruplex DNA in cells. Chem. Biol., 8, 221-230.
3. Henderson,E. (1995) Telomere DNA structure. In Blackburn,E.H. and Greider,C.W. (eds), Telomeres. Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, pp. 11-34.
4. Arthanari,H. and Bolton,P.H. (2003) Did quadruplex DNA play a role in the evolution of the eukaryotic linear chromosome? Mini Rev. Med. Chem., 3, 1-9.
5. Sen,D. and Gilbert,W. (1988) Formation of parallel four-stranded complexes by guanine-rich motifs in DNA and its implications for meiosis. Nature, 334, 364-366.
6. Simonsson,T., Pecinka,P. and Kubista,M. (1998) DNA tetraplex formation in the control region of c-myc, Nucleic Acids Res., 26, 1167-1172.
7. Siddiqui-Jain,A., Grand,C.L., Bearss,D.J. and Hurley,L.H. (2002) Direct evidence for a G-quadruplex in a promoter region and its targeting with a small molecule to repress c-MYC transcription. Proc. Natl Acad. Sci. USA, 99, 11593-11598.
8. Grand,C.L., Powell,T.J., Nagle,R.B., Bearss,D.J., Tye,D., Gleason-Guzman,M. and Hurley,L.H. (2004) Mutations in the G-quadruplex silencer element and their relationship to c-MYC overexpression, NM23 repression, and therapeutic rescue. Proc. Natl Acad. Sci. USA, 101, 6140-6145.
9. Hammond-Kosack,M.C., Kilpatrick,M.W. and Docherty,K. (1993) The human insulin gene-linked polymorphic region adopts a G-quartet structure in chromatin assembled in vitro. J. Mol. Endocrinol., 10, 121-126
10. Nielsen,F.C. and Christiansen,J. (1995) Posttranscriptional regulation of insulin-like growth factor II mRNA. Scand. J. Clin. Lab. Invest. Suppl., 220, 37-46.
11. Catasti,P., Chen,X., Moyzis,R.K., Bradbury,E.M. and Gupta,G. (1996) Structure-function correlations of the insulin-linked polymorphic region. J. Mol. Biol., 264, 534-545.
12. Nadel,Y., Weisman-Shomer,P. and Fry,M. (1995) The fragile X syndrome single strand d(CGG), nucleotide repeats readily fold back to form unimolecular hairpin structures. J. Biol. Chem., 270, 28970-28977.
13. Gacy,A.M., Goellner,G., Juranic,N., Macura,S. and McMurray,C.T. (1995) Trinucleotide repeats that expand in human disease form hairpin structures in vitro. Cell, 81, 533-540.
14. Chen,X., Mariappan,S.V., Catasti,P., Ratliff,R., Moyzis,R.K., Laayoun,A., Smith,S.S., Bradbury,E.M. and Gupta,G. (1995) Hairpins are formed by the single DNA strands of the fragile X triplet repeats: structure and biological implications. Proc. Natl Acad. Sci. USA, 92, 5199-5203.
15. 15. Nucleic Acids Res., 23, 1050-1059.
16. n nucleotide repeats form a stable tetrahelical structure. Proc. Natl Acad. Sci USA, 91, 4950-4954.
17. Kettani,A., Kumar,R.A. and Patel,D.J. (1995) Solution structure of a DNA quadruplex containing the fragile X syndrome triplet repeat. J. Mol. Biol., 254, 638-656.
18. Usdin,K. and Woodford,K.J. (1995) CGG repeats associated with DNA instability and chromosome fragility form structures that block DNA synthesis in vitro. Nucleic Acids Res., 23, 4202-9.
19. n trinucleotide repeat sequence. J. Biol. Chem., 276, 16439-16446.
20. Kang,S., Ohshima,K., Shimizu,M., Amirhaeri,S. and Wells,R.D. (1995) Pausing of DNA synthesis in vitro at specific loci in CTG and CGG triplet repeats from human hereditary disease genes. J. Biol. Chem., 270, 27014-27021.
21. Sun,H., Bennett,R.J. and Maizels,N. (1999) The Saccharomyces cerevisiae Sgs1 helicase efficiently unwinds G-G paired DNAs. Nucleic Acids Res., 27, 1978-1984.
22. Sun,H., Karow,J.K., Hickson,I.D. and Maizels,N. (1998) The Bloom's syndrome helicase unwinds G4 DNA. J. Biol. Chem., 273, 27587-27592.
23. n. J. Biol. Chem., 274, 12797-12802.
24. Mohaghegh,P., Karow,J.K., Brosh,R.M., Jr., Bohr,V.A. and Hickson,I.D. (2001) The Bloom's and Werner's syndrome proteins are DNA structure-specific helicases. Nucleic Acids Res., 29, 2843-2849.
25. n are destabilized by two heterogeneous nuclear ribonucleoprotein-related telomeric DNA-binding proteins. J. Biol. Chem., 275, 2231-2238.
26. n. Nucleic Acids Res., 30, 3672-3681.
27. Kamada,S. and Miwa,T. (1992) A protein binding to CArG box motifs and to single-stranded DNA functions as a transcriptional repressor. Gene, 119, 229-236.
28. Mikheev,A.M., Mikheev,S.A., Zhang,Y., Aebersold,R. and Zarbl,H. (2000) CArG binding factor A (CBF-A) is involved in transcriptional regulation of the rat Ha-ras promoter. Nucleic Acids.Res., 28, 3762-3770.
29. Bemark,M., Olsson,H., Heinegard,D. and Leanderson,T. (1998) Purification and characterization of a protein binding to the SP6 kappa promoter. A potential role for CArG-box binding factor-A in kappa transcription. J. Biol. Chem., 273, 18881-18890.
30. Rushlow,W.J., Rajakumar,B., Flumerfelt,B.A., Naus,C.C. and Rajakumar,N. (2000) Changes in CArG-binding protein A expression levels following injectiont(s) of the D1-dopamine agonist SKF-82958 in the intact and 6-hydroxydopamine-lesioned rat. Neuroscience, 98, 69-78.
31. Rushlow,W.J., Rajakumar,N., Flumerfelt,B.A. and Naus,C.C. (1999) Characterization of CArG-binding protein A initially identified by differential display. Neuroscience, 94, 637-649.
32. Sambrook,J. and Russel,D.W. (2001) Molecular Cloning: A Laboratory Manual, 3rd edn. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
33. n. Nucleic Acids Res., 31, 3963-3970.
34. Walsh,K. and Gualberto,A. (1992) MyoD binds to the guanine tetrad nucleic acid structure. J. Biol. Chem., 267, 13714-13718.
35. Sarig,G., Weisman-Shomer,P., Erlitzki,R. and Fry,M. (1997) Purification and characterization of qTBP42, a new single-stranded and quadruplex telomeric DNA-binding protein from rat hepatocytes. J. Biol. Chem., 272, 4474-4482.
36. Sarig,G., Weisman-Shomer,P. and Fry,M. (1997) Telomeric and tetraplex DNA binding properties of qTBP42: a homologue of the CArG box binding protein CBF-A. Biochem. Biophys. Res. Commun., 237, 617-623.
37. Hansen,R.S., Canfield,T.K., Lamb,M.M., Gartler,S.M. and Laird,C.D. (1993) Association of fragile X syndrome with delayed replication of the FMR1 gene. Cell, 73, 1403-1409.
38. Tassone,F., Hagerman,R.J., Chamberlain,W.D. and Hagerman,P.J. (2000) Transcription of the FMR1 gene in individuals with fragile X syndrome. Am. J. Med. Genet., 97, 195-203.
39. Feng,Y., Zhang,F., Lokey,L.K., Chastain,J.L., Lakkis, L, Eberhart,D. and Warren,S.T. (1995) Translational suppression by trinucleotide repeat expansion at FMR1. Science, 268, 731-734.
40. Tassone,F., Hagerman,R.J., Loesch,D.Z., Lachiewicz,A., Taylor,A.K. and Hagerman,P.J. (2000) Fragile X males with unmethylated, full mutation trinucleotide repeat expansions have elevated levels of FMR1 messenger RNA. Am. J. Med. Genet., 94, 232-236.
41. Tassone,F., Hagerman,R.J., Taylor,A.K. and Hagerman,P.J. (2001) A majority of fragile X males with methylated, full mutation alleles have significant levels of FMR1 messenger RNA. J. Med. Genet., 38, 453-456.
42. Handa,V., Saha,T. and Usdin,K. (2003) The fragile X syndrome repeats form RNA hairpins that do not activate the interferon-inducible protein kinase, PKR, but are cut by Dicer. Nucleic Acids Res., 31, 6243-6248.
43. Brown,V., Jin,P., Ceman,S., Darnell,J.C., O'Donnell,W.T., Tenenbaum,S.A., Jin,X., Feng,Y., Wilkinson,K.D., Keene,J.D., Darnell,R.B. and Warren,S.T. (2001) Microarray identification of FMRP-associated brain mRNAs and altered mRNA translational profiles in fragile X syndrome. Cell, 107, 477-487.
44. Darnell,J.C., Jensen,K.B., Jin,P., Brown,V., Warren,S.T. and Darnell,R.B. (2001) Fragile X mental retardation protein targets G quartet MRNAs important for neuronal function. Cell, 107, 489-499.