Trinucleotide repeats affect DNA replication in vivo

Nature Genetics

Volumn 17, Issue 3, 1997, Pages 298-304

  Samadashwily, George M ^a   Raca, Gordana ^a   Mirkin, Sergei M ^a  

^a UNIVERSITY OF ILLINOIS AT CHICAGO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CONTROLLED STUDY; DNA REPLICATION; DNA TEMPLATE; ESCHERICHIA COLI; MOLECULAR DYNAMICS; NONHUMAN; PRIORITY JOURNAL; TRINUCLEOTIDE REPEAT;

CHLORAMPHENICOL; DEOXYRIBONUCLEASE ECORI; DEOXYRIBONUCLEASE HINDIII; DNA REPLICATION; ELECTROPHORESIS; ESCHERICHIA COLI; PLASMIDS; PROTEIN SYNTHESIS INHIBITORS; TRANSCRIPTION, GENETIC; TRINUCLEOTIDE REPEATS;

BACTERIA (MICROORGANISMS); ESCHERICHIA COLI;

EID: 0030725454     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng1197-298     Document Type: Article

References (50)

1. Ashley, C., Jr. & Warren, S.T. Trinucleotide repeat expansion and human disease. Annu. Rev. Genet. 29, 703-728 (1995).
2. McMurray, C.T. Mechanisms of DNA expansion. Chromosoma 104, 2-13 (1995).
3. Wells, R.D. Molecular basis of genetic instability of triplet repeats. J. Biol. Chem. 271, 2875-2878 (1996).
4. Bates, G. & Lehrach, H. Trinucleotide repeat expansions and human genetic disease. Bioessays 16, 277-284 (1994).
5. Caskey, C.T., Pizzuti, A., Fu, Y.-H., Fenwick R.G., Jr. & Nelson, D.L. Triplet repeat mutations in human disease. Science 256, 784-789 (1992).
6. Cox, R. & Mirkin, S.M. Characteristic enrichment of DNA repeats in different genomes. Proc. Natl. Acad. Sci. USA 94, 5237-5242 (1997).
7. Kohwi, Y., Wang, H. & Kohwi-Shigematsu, T. A single trinucleotide, 5′AGC3′/5′GCT3′, of the triplet-repeat disease genes confers metal ion-induced non-B DNA structure. Nucleic Acids Res. 21, 5651-5655 (1993).
8. Bacolla, A. et al. Flexible DNA: genetically unstable CTG-CAG and CGG-CCG from human hereditary neuromuscular disease genes. J. Biol. Chem. 272, 15783-16792 (1997).
9. Mitchell, J.E., Newbury, S.F. & McClellan, J.A. Compact structures of d(CNG)n oligonucleotides in solution and their possible relevance to fragile X and related human genetic diseases. Nucleic Acids Res. 23, 1876-1881 (1995).
10. Petruska, J., Arnheim, N. & Goodman, M.F. Stability of intrastrand hairpin structures formed by the CAG/CTG class of DNA triplet repeats associated with neurological diseases. Nucleic Acids Res. 24, 1992-1998 (1996).
11. 15 adopts a hairpin conformation. Nucleic Acids Res. 23, 2705-2714 (1995).
12. 15 forms a hairpin containing protonated cytosines and a distorted helix. Biochemistry 36, 3687-3699 (1997).
13. Zheng, M., Huang, X., Smith, G.K., Yang, X. & Gao, X. Genetically unstable CXG repeats are structurally dynamic and have a high propensity for folding: an NMR and UV spertroscopic study. J. Mol. Biol. 264, 323-336 (1996).
14. Gacy, A.M., Goellner, G., Juranic, N., Macura, S. & McMurray, C.T. Trinucleotide repeats that expand in human disease form hairpin structures in vitro. Cell 81, 533-540 (1995).
15. Chen, X. et al. 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 (1995).
16. Fry, M. & Loeb, L.A. The fragile X syndrome d(CGG)n nucleotide repeats form a stable tetrahelical structure. Proc. Natl. Acad. Sci. USA 91, 4950-4954 (1994).
17. Kettani, A., Kumar, R.A. & Patel, D.J. Solution structure of a DNA quadruplex containing the fragile X syndrome triplet repeat. J. Mol. Biol. 254, 638-656 (1995).
18. Kuryavyi, V.V. & Jovin, T.M. Triad-DNA: a model for trinucleotide repeats. Nature Genet 9, 339-341 (1995).
19. Reiss, A.L. et al. frequency and stability of the fragile X premutation. Hum. Mol. Genet. 3, 393-398 (1994).
20. Kunst, C.B. & Warren, S.T. Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles. Cell 77, 853-861 (1994).
21. Snow, K., Tester, D.J., Kruckeberg, K.E., Schaid, DJ. & Thibodeau, S.N. Sequence analysis of the fragile X trinucleotide repeat: implications for the origin of the fragile X mutation. Hum. Mol. Genet 3, 1543-1551 (1994).
22. Jodice, C. et al. Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia I. Am. J. Hum. Genet. 54, 959-965 (1994).
23. Trinh, T.Q. & Sinden, R.R. Preferential DNA secondary structure mutagenesis in the lagging strand of replication in E. coli. Nature 352, 544-547 (1991).
24. Kang, S., Ohshima, K., Shimizu, M., Amirhaeri, S. & Wells, R.D. 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 (1995).
25. Ohshima, K. & Wells, R.D. Hairpin formation during DNA synthesis primer realignment in vitro in triplet repeat sequences from human hereditary disease genes. J. Biol. Chem. 272, 16798-16806 (1997).
26. Usdin, K. & Woodford, K.J. CGG repeats associated with DNA instability and chromosome fragility from structures that block DNA synthesis in vitro. Nucleic Acids Res. 23, 4202-4209 (1995).
27. Kang, S., Ohshima, K., Jaworski, A. & Wells, R.D. CTG triplet repeats from the myotonic dystrophy gene are expanded in Escherichia coli distal to the replication origin as a single large event. J. Mol. Biol. 258, 543-547 (1996).
28. Kang, S., Jaworski. A., Ohshima, K. & Wells, R.D. 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 (1995).
29. Bowater, R.P., Rosche, W.A., Jaworski, A., Sinden, R.R. & Wells, R.D. Relationship between Escherichia coli growth and deletions of CTG.CAG triplet repeats in plasmids. J. Mol. Biol. 264, 82-96 (1996).
30. Ohshima, K., Kang, S. & Wells, R.D. CTG triplet repeats from human hereditary diseases are dominant genetic expansion products in Escherichia coli. J. Biol. Chem. 271, 1853-1856 (1996).
31. Shimizu, M., Gellibolian, R., Oostra, B.A. & Wells, R.D. Cloning, characterization and properties of plasmids containing CGG triplet repeats from the FMR-1 gene. J. Mol. Biol. 258, 614-626 (1996).
32. Webb, T. Delayed replication of Xq27 in individuals with the fragile X syndrome. Am. J. Med. Genet. 43, 1057-1062 (1992).
33. Hansen, R.S., Canfield, T.K., Lamb, M.M., Gartler, S.M. & Laird, C.D. Association of fragile X syndrome with delayed replication of the FMR1 gene. Cell 73, 1403-1409 (1993).
34. Subramanian, P.S., Nelson, D.L. & Chinault, A.C. Large domains of apparent delayed replication timing associated with triplet repeat expansion at FRAXA and FRAXE. Am. J. Hum. Genet. 59, 407-416 (1996).
35. Brewer, B.J. & Fangman, W.L. The localization of replication origins on ARS plasmids in S. cerevisiae. Cell 51, 463-471 (1987).
36. Kornberg, A. & Baker, T. DNA Replication, 2nd ed. (W.H. Freeman & Co., New York, 1992).
37. Amann, E., Ochs, B. & Abel, K.J. Tightly regulated tac promoter vectors useful for the expression of unfused and fused proteins in Escherichia coli. Gene 69, 301-315 (1988).
38. Martin-Parras, L., Hernandez, P., Martinez-Robles, M. & Schvartzman, J.B. Unidirectional replication as visualised by two-dimensional agarose gel electrophoresis. J. Mol. Biol. 220, 843-855 (1991).
39. Clewell, D.B. Nature of Col E1 plasmid replication in Escherichia coli in the presence of chloramphenicol. J. Bacteriol. 110, 667-676 (1972).
40. Balbas, P. et al. Plasmid vector pBR322 and its special-purpose derivatives - a review. Gene 50, 3-40 (1986).
41. Friedman, K.L. & Brewer, B.J. Analysis of replication intermediates by two-dimensional agarose gel electrophoresis. Methods Enzymol. 262, 613-627 (1995).
42. Reaban, M.E., Lebowitz, J. & Griffin, J.A. Transcription induces the formation of a stable RNA-DNA hybrid in the immunoglobulin a switch region. J. Biol. Chem. 269, 21850-21857 (1994).
43. Reaban, M.E. & Griffin, J.A. Induction of RNA-stabilized DNA conformers by transcription of an immunoglobulin switch region. Nature 348, 342-344 (1990).
44. Strand, M., Prolla, T.A., Liskay, R.M. & Petes, T.D. Destabilization of tracts of simple repetitive DNA in yeast by mutations affecting DNA mismatch repair. Nature 365, 274-276 (1993).
45. Jaworski, A. et al. Mismatch repair in Escherichia coli enhances instability of (CTG)n triplet repeats from human hereditary diseases. Proc. Natl. Acad. Sci. USA 92, 11019-11023 (1995).
46. Hacker, K.J. & Alberts, B.M. The rapid dissociation of the T4 DNA polymerase holoenzyme when stopped by a DNA hairpin helix: a model for polymerase release following the termination of each Okazaki fragment. J. Biol. Chem. 269, 24221-24228 (1994).
47. Krasilnikov, A.S. et al. Mechanisms of triplex-caused polymerization arrest. Nucleic Acids Res. 25, 1339-1346 (1997).
48. Gordenin, D.A., Kunkel, T.A. & Resnick, M.A. Repeat expansion - all in a flap? Nature Genet. 16, 116-118 (1997).
49. Tishkoff, D.X., Filosi, N., Gaida, G.M. & Kolodner, R.D. A novel mutation avoidance mechanism dependent on S. cerevisiae RAD27 is distinct from DNA mismatch repair. Cell 88, 253-263 (1997).
50. Samadashwily, G.M., Dayn, A. & Mirkin, S.M. Suicidal nucleotide sequences for DNA polymerization. EMBO J. 12, 4975-4983 (1993).