E. coli mismatch repair acts downstream of replication fork stalling to stabilize the expanded (GAA·TTC)n sequence

Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis

Volumn 661, Issue 1-2, 2009, Pages 71-77

  Bourn, Rebecka L ^a   Rindler, Paul M ^a   Pollard, Laura M ^a   Bidichandani, Sanjay I ^a  

^a UNIVERSITY OF OKLAHOMA COLLEGE OF MEDICINE   (United States)

Author keywords

GAA triplet repeat; Mismatch repair; Replication fork stalling; Triplet repeat instability

Indexed keywords

HYDROXYUREA; RECA PROTEIN;

ARTICLE; BACTERIAL GENE; CONTROLLED STUDY; DNA REPLICATION; ESCHERICHIA COLI; FRIEDREICH ATAXIA; GENE MUTATION; GENE REPLICATION; GENE SEQUENCE; MISMATCH REPAIR; NONHUMAN; PRIORITY JOURNAL; RECA GENE; WILD TYPE;

BASE SEQUENCE; DNA MISMATCH REPAIR; DNA REPLICATION; DNA, BACTERIAL; ESCHERICHIA COLI; ESCHERICHIA COLI PROTEINS; FRIEDREICH ATAXIA; GENOMIC INSTABILITY; HUMANS; INDEL MUTATION; REC A RECOMBINASES;

ESCHERICHIA COLI; EUKARYOTA; PROKARYOTA;

EID: 58549099457     PISSN: 00275107     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mrfmmm.2008.11.003     Document Type: Article

References (44)

1. Jiricny J. The multifaceted mismatch-repair system. Nat. Rev. Mol. Cell Biol. 7 (2006) 335-346
2. Dohet C., Dzidic S., Wagner R., and Radman M. Large non-homology in heteroduplex DNA is processed differently than single base pair mismatches. Mol. Gen. Genet. 206 (1987) 181-184
3. Fang W.H., Wang B.J., Wang C.H., Lee S.J., Chang Y.T., Chuang Y.K., and Lee C.N. DNA loop repair by Escherichia coli cell extracts. J. Biol. Chem. 278 (2003) 22446-22452
4. Peltomaki P. Role of DNA mismatch repair defects in the pathogenesis of human cancer. J. Clin. Oncol. 21 (2003) 1174-1179
5. Lahue R.S., Au K.G., and Modrich P. DNA mismatch correction in a defined system. Science 245 (1989) 160-164
6. Orr H.T., and Zoghbi H.Y. Trinucleotide repeat disorders. Annu. Rev. Neurosci. 30 (2007) 575-621
7. Pearson C.E., Edamura K.N., and Cleary J.D. Repeat instability: mechanisms of dynamic mutations. Nat. Rev. Genet. 6 (2005) 729-742
8. Wells R.D., Dere R., Hebert M.L., Napierala M., and Son L.S. Advances in mechanisms of genetic instability related to hereditary neurological diseases. Nucleic Acids Res. 33 (2005) 3785-3798
9. Shelbourne P.F., Keller-McGandy C., Bi W.L., Yoon S.R., Dubeau L., Veitch N.J., Vonsattel J.P., Wexler N.S., US-Venezuela Collaborative Research Group, Arnheim N., and Augood S.J. Triplet repeat mutation length gains correlate with cell-type specific vulnerability in Huntington disease brain. Hum. Mol. Genet. 16 (2007) 1133-1142
10. Wheeler V.C., Lebel L.A., Vrbanac V., Teed A., te Riele H., and MacDonald M.E. Mismatch repair gene Msh2 modifies the timing of early disease in hdh(Q111) striatum. Hum. Mol. Genet. 12 (2003) 273-281
11. De Biase I., Rasmussen A., Endres D., Al-Mahdawi S., Monticelli A., Cocozza S., Pook M., and Bidichandani S.I. Progressive GAA expansions in dorsal root ganglia of Friedreich's ataxia patients. Ann. Neurol. 61 (2007) 55-60
12. Clark R.M., De Biase I., Malykhina A.P., Al-Mahdawi S., Pook M., and Bidichandani S.I. The GAA triplet-repeat is unstable in the context of the human FXN locus and displays age-dependent expansions in cerebellum and DRG in a transgenic mouse model. Hum. Genet. 120 (2007) 633-640
13. n triplet repeats from human hereditary diseases. Proc. Natl. Acad. Sci. U.S.A. 92 (1995) 11019-11023
14. Schmidt K.H., Abbott C.M., and Leach D.R. Two opposing effects of mismatch repair on CTG repeat instability in Escherichia coli. Mol. Microbiol. 35 (2000) 463-471
15. Parniewski P., Jaworski A., Wells R.D., and Bowater R.P. Length of CTG·CAG repeats determines the influence of mismatch repair on genetic instability. J. Mol. Biol. 299 (2000) 865-874
16. Manley K., Shirley T.L., Flaherty L., and Messer A. Msh2 deficiency prevents in vivo somatic instability of the CAG repeat in Huntington disease transgenic mice. Nat. Genet. 23 (1999) 471-473
17. n repeat in myotonic dystrophy knock-in mice is differentially affected by Msh3 and Msh6 mismatch-repair proteins. Hum. Mol. Genet. 11 (2002) 191-198
18. Foiry L., Dong L., Savouret C., Hubert L., te Riele H., Junien C., and Gourdon G. Msh3 is a limiting factor in the formation of intergenerational CTG expansions in DM1 transgenic mice. Hum. Genet. 119 (2006) 520-526
19. Gomes-Pereira M., Fortune M.T., Ingram L., McAbney J.P., and Monckton D.G. Pms2 is a genetic enhancer of trinucleotide CAG·CTG repeat somatic mosaicism: implications for the mechanism of triplet repeat expansion. Hum. Mol. Genet. 13 (2004) 1815-1825
20. (n)-hairpin DNA binds to Msh2-Msh3 and changes properties of mismatch recognition. Nat. Struct. Mol. Biol. 12 (2005) 663-670
21. Panigrahi G.B., Lau R., Montgomery S.E., Leonard M.R., and Pearson C.E. Slipped (CTG)·(CAG) repeats can be correctly repaired, escape repair or undergo error-prone repair. Nat. Struct. Mol. Biol. 12 (2005) 654-662
22. Heidenfelder B.L., Makhov A.M., and Topal M.D. Hairpin formation in Friedreich's ataxia triplet repeat expansion. J. Biol. Chem. 278 (2003) 2425-2431
23. Suen I.S., Rhodes J.N., Christy M., McEwen B., Gray D.M., and Mitas M. Structural properties of Friedreich's ataxia d(GAA) repeats. Biochim. Biophys. Acta 1444 (1999) 14-24
24. Tiner Sr. W.J., Potaman V.N., Sinden R.R., and Lyubchenko Y.L. The structure of intramolecular triplex DNA: atomic force microscopy study. J. Mol. Biol. 314 (2001) 353-357
25. n repeats at neutral pH. Nucleic Acids Res. 32 (2004) 1224-1231
26. Mariappan S.V., Catasti P., Silks III L.A., Bradbury E.M., and Gupta G. The high-resolution structure of the triplex formed by the GAA/TTC triplet repeat associated with Friedreich's ataxia. J. Mol. Biol. 285 (1999) 2035-2052
27. Wells R.D. DNA triplexes and Friedreich ataxia. FASEB J. 22 (2008) 1625-1634
28. Shimizu M., Hanvey J.C., and Wells R.D. Multiple non-B-DNA conformations of polypurine·polypyrimidine sequences in plasmids. Biochemistry 29 (1990) 4704-4713
29. Sakamoto N., Chastain P.D., Parniewski P., Ohshima K., Pandolfo M., Griffith J.D., and Wells R.D. Sticky DNA: self-association properties of long GAA·TTC repeats in R·R·Y triplex structures from Friedreich's ataxia. Mol. Cell. 3 (1999) 465-475
30. Vetcher A.A., Napierala M., and Wells R.D. Sticky DNA: effect of the polypurine·polypyrimidine sequence. J. Biol. Chem. 277 (2002) 39228-39234
31. Pollard L.M., Sharma R., Gomez M., Shah S., Delatycki M.B., Pianese L., Monticelli A., Keats B.J., and Bidichandani S.I. Replication-mediated instability of the GAA triplet repeat mutation in Friedreich ataxia. Nucleic Acids Res. 32 (2004) 5962-5971
32. Bowater R.P., Rosche W.A., Jaworski A., Sinden R.R., and Wells R.D. Relationship between Escherichia coli growth and deletions of CTG·CAG triplet repeats in plasmids. J. Mol. Biol. 264 (1996) 82-96
33. Loh T., Murphy K.C., and Marinus M.G. Mutational analysis of the MutH protein from Escherichia coli. J. Biol. Chem. 276 (2001) 12113-12119
34. Pan X., and Leach D.R. The roles of mutS, sbcCD and recA in the propagation of TGG repeats in Escherichia coli. Nucleic Acids Res. 28 (2000) 3178-3184
35. Morganroth P.A., and Hanawalt P.C. Role of DNA replication and repair in thymineless death in Escherichia coli. J. Bacteriol. 188 (2006) 5286-5288
36. Godoy V.G., Jarosz D.F., Walker F.L., Simmons L.A., and Walker G.C. Y-family DNA polymerases respond to DNA damage-independent inhibition of replication fork progression. EMBO J. 25 (2006) 868-879
37. n sequence results in frequent deletion of the triplet-repeat sequence. Nucleic Acids Res. 36 (2008) 489-500
38. n repeats in vivo. Mol. Cell. Biol. 24 (2004) 2286-2295
39. Mirkin S.M. Expandable DNA repeats and human disease. Nature 447 (2007) 932-940
40. n sequence when GAA is the lagging strand template. Nucleic Acids Res. 35 (2007) 6884-6894
41. Evans E., and Alani E. Roles for mismatch repair factors in regulating genetic recombination. Mol. Cell. Biol. 20 (2000) 7839-7844
42. Michel B., Ehrlich S.D., and Uzest M. DNA double-strand breaks caused by replication arrest. EMBO J. 16 (1997) 430-438
43. Seigneur M., Bidnenko V., Ehrlich S.D., and Michel B. RuvAB acts at arrested replication forks. Cell 95 (1998) 419-430
44. Marians K.J. Mechanisms of replication fork restart in Escherichia coli. Philos. Trans. R. Soc. Lond. B. Biol. Sci. 359 (2004) 71-77