CGG/CCG repeats exhibit orientation-dependent instability and orientation-independent fragility in Saccharomyces cerevisiae

Human Molecular Genetics

Volumn 9, Issue 1, 2000, Pages 93-100

  Balakumaran, Bala S ^b   Freudenreich, Catherine H ^a,b   Zakian, Virginia A ^b  

^a TUFTS UNIVERSITY   (United States)

^b PRINCETON UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CONTROLLED STUDY; DNA INTEGRATION; FRAGILE X SYNDROME; GENETIC RECOMBINATION; GENETIC STABILITY; HUMAN; NONHUMAN; ORIENTATION; PRIORITY JOURNAL; SACCHAROMYCES CEREVISIAE; TRINUCLEOTIDE REPEAT;

SACCHAROMYCES CEREVISIAE;

EID: 0034017208     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/9.1.93     Document Type: Article

References (62)

1. Caskey, C.T., Pizzuti, A., Fu, Y.H., Fenwick Jr, R.G. and Nelson, D.L. (1992) Triplet repeat mutations in human disease. Science, 256, 784-789.
2. Oostra, B.A. and Verkerk, A.J. (1992) The fragile X syndrome: isolation of the FMR-1 gene and characterization of the fragile X mutation. Chromosoma, 101, 381-387.
3. Ashley, C.T. and Warren, S.T. (1995) Trinucleotide repeat expansion and human disease. Annu. Rev. Genet., 29, 703-728.
4. Pieretti, M., Zhang, F., Fu, Y.H., Warren, S.T., Oostra, B.A., Caskey, C.T. and Nelson, D.L. (1991) Absence of expression of the FMR-1 gene in fragile X syndrome. Cell, 66, 817-822.
5. Sutcliffe, J.S., Nelson, D.L., Zhang, F., Pieretti, M., Caskey, C.T., Saxe, D. and Warren, S.T. (1992) DNA methylation represses FMR-1 transcription in fragile X syndrome. Hum. Mol. Genet., 1, 397-400.
6. Tapscott, S.J., Klesert, T.R., Widrow, R.J., Stoger, R. and Laird, C.D. (1998) Fragile-X syndrome and myotonic dystrophy: parallels and paradoxes. Curr. Opin. Genet. Dev., 8, 245-253.
7. Knight, S.J., Flannery, A.V., Hirst, M.C., Campbell, L., Christodoulou, Z., Phelps, S.R., Pointon, J., Middleton-Price, H.R., Barnicoat, A., Pembrey, M.E. et al. (1993) Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. Cell, 74, 127-134.
8. Sutherland, G.R. and Richards, R.I. (1999) Fragile sites - cytogenetic similarity with molecular diversity. Am. J. Hum. Genet., 64, 354-359.
9. Berger, R., Bloomfield, C.D. and Sutherland, G.R. (1985) Report of the committee on chromosome rearrangements in neoplasia and on fragile sites. Cytogenet. Cell Genet., 40, 490-535.
10. Reddy, P.S. and Housman, D.E. (1997) The complex pathology of trinucleotide repeats. Curr. Opin. Cell Biol., 9, 364-372.
11. Mitas, M. (1997) Trinucleotide repeats associated with human disease. Nucleic Acids Res., 25, 2245-2254.
12. Ohshima, K. and Wells, R.D. (1997) Hairpin formation during DNA synthesis primer realignment in vitro in triplet repeat sequences from human hereditary disease genes. J. Biol. Chem., 272, 16798-16806.
13. Darlow, J.M. and Leach, D.R.F. (1998) Secondary structures in d(CGG) and d(CCG) repeat tracts. J. Mol. Biol., 275, 3-16.
14. Sakamoto, N., Chastain, P.D., Parniewski, P., Ohshima, K., Pandolfo, M., Griffith, J.D. and Wells, R.D. (1999) Sticky DNA: self-association properties of long GAA.TTC repeats in R.R.Y triplex structures from Friedreich's ataxia. Mol. Cell, 3, 465-475.
15. Gacy, A.M. and McMurray, C.T. (1998) Influence of hairpins on template reannealing at trinucleotide repeat duplexes: a model for slipped DNA. Biochemistry, 37, 9426-9434.
16. n nucleotide repeats readily fold back to form unimolecular hairpin structures. J. Biol. Chem., 270, 28970-28977.
17. Usdin, K. (1998) NGG-triplet repeats form similar intrastrand structures: implications for the triplet expansion diseases. Nucleic Acids Res., 26, 4078-4085.
18. Shimizu, M., Gellibolian, R., Oostra, B.A. and Wells, R.D. (1996) Cloning, characterization and properties of plasmids containing CGG triplet repeats from the FMR-1 gene. J. Mol. Biol., 258, 614-626.
19. Hirst, M.C. and White, P.J. (1998) Cloned human FMR1 trinucleotide repeats exhibit a length-and orientation-dependent instability suggestive of in vivo lagging strand secondary structure. Nucleic Acids Res., 26, 2353-2358.
20. Kang, S., Jaworski, A., Ohshima, K. and Wells, R.D. (1995) Expansion and deletion of CTG repeats from human disease genes are determined by the direction of replication in E.coli. Nature Genet., 10, 213-218.
21. Bowater, R.P., Rosche, W.A., Jaworski, A., Sinden, R.R. and Wells, R.D. (1996) Relationship between Escherichia coli growth and deletions of CTG.CAG triplet repeats in plasmids. J. Mol. Biol., 264, 82-96.
22. Freudenreich, C.H., Stavenhagen, J.B. and Zakian, V.A. (1997) Stability of a CTG/CAG trinucleotide repeat in yeast is dependent on its orientation in the genome. Mol. Cell. Biol., 17, 2090-2098.
23. Freudenreich, C.H., Kantrow, S.M. and Zakian, V.A. (1998) Expansion and length-dependent fragility of CTG repeats in yeast. Science, 279, 853-856.
24. Maurer, D.J., O'Callagan, B.L. and Livingston, D.M. (1996) Orientation dependence of trinucleotide CAG repeat instability in Saccharomyces cerevisiae. Mol. Cell. Biol., 16, 6617-6622.
25. Miret, J.J., Pessoa-Brandao, L. and Lahue, R.S. (1997) Instability of CAG and CTG trinucleotide repeats in Saccharomyces cerevisiae. Mol. Cell. Biol., 17, 3382-3387.
26. Wang, Y.H. and Griffith, J. (1996) Methylation of expanded CCG triplet repeat DNA from fragile X syndrome patients enhances nucleosome exclusion. J. Biol. Chem., 271, 22937-22940.
27. Wang, Y.H., Gellibolian, R., Shimizu, M., Wells, R.D. and Griffith, J. (1996) Long CCG triplet repeat blocks exclude nucleosomes: a possible mechansim for the nature of fragile sites in chromosomes. J. Mol. Biol., 263, 511-516.
28. Godde, J.S., Kass, S.U., Hirst, M.C. and Wolffe, A.P. (1996) Nucleosome assembly on methylated CGG triplet repeats in the fragile X mental retardation gene 1 promoter. J. Biol. Chem., 271, 24325-24328.
29. Verkerk, A.J.M.H., Pieretti, M., Sutcliffe, J.S., Fu, Y.-H., Kuhl, D.P.A., Pizzuti, A., Reiner, O., Richards, S., Victoria, M.F., Zhang, F. et al. (1991) Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell, 65, 905-914.
30. Kunst, C.B. and Warren, S.T. (1994) Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles. Cell, 77, 853-861.
31. Zar, J. (1984) Biostatistical Analysis. 2nd edn. Prentice Hall, NJ.
32. Boeke, J.D., LaCroute, F. and Fink, G.R. (1984) A positive selection for mutants lacking orotidine-5′-phosphate decarboxylase activity in yeast: 5-fluoro-orotic acid resistance. Mol. Gen. Genet., 197, 345-346.
33. Sugawara, N. and Haber, J.E. (1992) Characterization of double-strand break-induced recombination: homology requirements and single-stranded DNA formation. Mol. Cell. Biol., 12, 563-575.
34. Hartwell, L. and Smith, D. (1985) Altered fidelity of mitotic chromosome transmission in cell cycle mutants of S.cerevisiae. Genetics, 110, 381-395.
35. Lea, D.E. and Coulson, C.A. (1949) The distribution of the numbers of mutants in bacterial populations. J. Genet., 49, 264-285.
36. Jones, M.E., Thomas, S.M. and Rogers, A. (1994) Luria-Delbruck fluctuation experiments: design and analysis. Genetics, 136, 1209-1216.
37. Sung, P., Reynolds, P., Prakash, L. and Prakash, S. (1993) Purification and characterization of the Saccharomyces cerevisiae RADI/RADIO endonuclease. J. Biol. Chem., 268, 26391-26399.
38. Tomkinson, A.E., Bardwell, A.J., Bardwell, L., Tappe, N.J. and Friedberg, E.C. (1993) Yeast DNA repair and recombination proteins Rad1 and Rad10 constitute a single-stranded-DNA endonuclease. Nature, 362, 860-862.
39. Bardwell, A.J., Bardwell, L., Tomkinson, A.E. and Friedberg, E.C. (1994) Specific cleavage of model recombination and repair intermediates by the yeast Rad1-Rad10 DNA endonuclease. Science, 265, 2082-2085.
40. Prakash, S., Prakash, L., Burke, W. and Montelone, B. (1980) Effects of the Rad52 gene on recombination in Saccharomyces cerevisiae. Genetics, 94, 31-50.
41. Malone, R.E. and Esposito, R.E. (1980) The RAD52 gene is required for homothallic interconversion of mating types and spontaneous mitotic recombination in yeast. Proc. Natl Acad. Sci. USA, 77, 503-507.
42. Hartwell, L.H. (1976) Sequential function of gene products relative to DNA synthesis in the yeast cell cycle. J. Mol. Biol., 104, 803-814.
43. Sutherland, G.R. and Richards, R.I. (1995) The molecular basis of fragile sites in human chromosomes. Curr. Opin. Genet. Dev., 5, 323-327.
44. White, P.J., Borts, R.H. and Hirst, M.C. (1999) Stability of the human fragile X (CGG)(n) triplet repeat array in Saccharomyces cerevisiae deficient in aspects of DNA metabolism. Mol. Cell. Biol., 19, 5675-5684.
45. McMurray, C.T. (1995) Mechanisms of DNA expansion. Chromosoma, 104, 2-13.
46. Samadashwily, G.M., Raca, G. and Mirkin, S.M. (1997) Trinucleotide repeats affect DNA replication in vivo. Nature Genet., 17, 298-304.
47. Miret, J.J., Pessoa-Brandao, L. and Lahue, R.S. (1998) Orientation-dependent and sequence-specific expansions of CTG/CAG trinucleotide repeats in Saccharomvces cerevisiae. Proc. Natl Acad. Sci. USA, 95, 12438-12443.
48. Moore, H., Greenwell, P.W., Liu, C.P., Arnheim, N. and Petes, T.D. (1999) Triplet repeats form secondary structures that escape DNA repair in yeast. Proc. Natl Acad. Sci. USA, 96, 1504-1509.
49. Nelson, D. (1998) Fragile-X syndrome. In Jameson, J. (ed.), Principles of Molecular Medicine. Humana Press, Totowa, NJ, pp. 1063-1067.
50. Malter, H.E., Iber, J.C., Willemsen, R., de Graaff, E., Tarleton, J.C., Leisti, J., Warren, S.T. and Oostra, B.A. (1997) Characterization of the full fragile X syndrome mutation in fetal gametes. Nature Genet., 15, 165-169.
51. Kladde, M.P., Xu, M. and Simpson, R.T. (1996) Direct study of DNA-protein interactions in repressed and active chromatin in living cells. EMBO J., 15, 6290-6300.
52. Yu, S., Mulley, J., Loesch, D., Turner, G., Donnelly, A., Gedeon, A., Hillen, D., Kremer, E., Lynch, M., Pritchard, M. et al. (1992) Fragile-X syndrome: unique genetics of the heritable unstable element. Am. J. Hum. Genet., 50, 968-980.
53. Warren, S.T., Zhang, F., Licameli, G.R. and Peters, J.F. (1987) The fragile X site in somatic cell hybrids: an approach for molecular cloning of fragile sites. Science, 237, 420-423.
54. Glover, T.W. and Stein, C.K. (1988) Chromosome breakage and recombination at fragile sites. Am. J. Hum. Genet., 43, 265-273.
55. Evan, G. and Littlewood, T. (1998) A matter of life and cell death. Science, 281, 1317-1322.
56. Hanish, J.P., Yanowitz, J.L. and De Lange, T. (1994) Stringent sequence requirements for the formation of human telomeres. Proc. Natl Acad. Sci. USA, 91, 8861-8865.
57. Sikorski, R.S. and Hieter, P. (1989) A system of shuttle vectors and yeast host strains designed for efficient manipulation of DNA in Saccharomyces cerevisiae. Genetics, 122, 19-27.
58. Schiestl, R.H. and Gietz, R.D. (1989) High efficiency transformation of intact yeast cells using single stranded nucleic acids as a carrier. Curr. Genet., 16, 339-346.
59. Hill, J., Ian, K.A., Donald, G. and Griffiths, D.E. (1991) DMSO-enhanced whole-cell yeast transformation. Nucleic Acids Res., 19, 5791.
60. Lorenz, M.C., Muir, R.S., Lim, E., McElver, J., Weber, S.C. and Heitman, J. (1995) Gene disruption with PCR products in Saccharomyces cerevisiae. Gene, 158, 113-117.
61. Rose, M.D., Winston, F. and Hieter, P. (1990) Methods in Yeast Genetics: A Laboratory Course Manual. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
62. Zakian, V.A. and Scott, J.F. (1982) Construction, replication and chromatin structure of TRP1 RI circle, a multiple-copy synthetic plasmid derived from Saccharomyces cerevisiae chromosomal DNA. Mol. Cell. Biol., 2, 221-232.