Mammalian mismatch repair: Error-free or error-prone?

Trends in Biochemical Sciences

Volumn 37, Issue 5, 2012, Pages 206-214

  Peña Diaz, Javier ^a,b   Jiricny, Josef ^a,b  

^a UNIVERSITY OF ZURICH   (Switzerland)

^b ETH ZURICH   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIBODY; CHROMATIN ASSEMBLY FACTOR 1; MISMATCH REPAIR PROTEIN; NUCLEOTIDE; PROTEIN MSH6; SINGLE STRANDED DNA;

ANTIBODY PRODUCTION; DNA DETERMINATION; DNA METABOLISM; DNA REPLICATION; DNA STRAND; HUMAN; INDEL MUTATION; MAMMALIAN MISMATCH REPAIR; MISMATCH REPAIR; MOLECULAR MECHANICS; MUTAGENESIS; NONHUMAN; PRIORITY JOURNAL; PROTEIN DNA INTERACTION; PROTEIN PROCESSING; REVIEW; TRINUCLEOTIDE REPEAT;

ANIMALS; BASE PAIR MISMATCH; DNA; DNA MISMATCH REPAIR; DNA REPLICATION; HUMANS; MAMMALS; MODELS, GENETIC; TRINUCLEOTIDE REPEAT EXPANSION;

MAMMALIA;

EID: 84860510016     PISSN: 09680004     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.tibs.2012.03.001     Document Type: Review

References (68)

1. Jiricny J. Colon cancer and DNA repair: have mismatches met their match?. Trends Genet. 1994, 10:164-168.
2. Peltomaki P., et al. Mutations associated with HNPCC predisposition - update of ICG-HNPCC/INSiGHT mutation database. Dis. Markers 2004, 20:269-276.
3. Bonadona V., et al. Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. JAMA 2011, 305:2304-2310.
4. Constantin N., et al. Human mismatch repair: reconstitution of a nick-directed bidirectional reaction. J. Biol. Chem. 2005, 280:39752-39761.
5. Zhang Y., et al. Reconstitution of 5'-directed human mismatch repair in a purified system. Cell 2005, 122:693-705.
6. Jiricny J. The multifaceted mismatch-repair system. Nat. Rev. Mol. Cell Biol. 2006, 7:335-346.
7. Li G.M. Mechanisms and functions of DNA mismatch repair. Cell Res. 2008, 18:85-98.
8. Iyer R.R., et al. DNA mismatch repair: functions and mechanisms. Chem. Rev. 2006, 106:302-323.
9. Kunkel T.A., et al. DNA mismatch repair. Annu. Rev. Biochem. 2005, 74:681-710.
10. Hsieh P., et al. DNA mismatch repair: molecular mechanism, cancer, and ageing. Mech. Ageing Dev. 2008, 129:391-407.
11. Modrich P. Mechanisms in eukaryotic mismatch repair. J. Biol. Chem. 2006, 281:30305-30309.
12. Thomas D.C., et al. Heteroduplex repair in extracts of human HeLa cells. J. Biol. Chem. 1991, 266:3744-3751.
13. Holmes J., et al. Strand-specific mismatch correction in nuclear extracts of human and Drosophila melanogaster cell lines. Proc. Natl. Acad. Sci. U.S.A. 1990, 87:5837-5841.
14. Kadyrov F.A., et al. Endonucleolytic function of MutLalpha in human mismatch repair. Cell 2006, 126:297-308.
15. Pluciennik A., et al. Protein roadblocks and helix discontinuities are barriers to the initiation of mismatch repair. Proc. Natl. Acad. Sci. U.S.A. 2007, 104:12709-12713.
16. Pluciennik A., et al. PCNA function in the activation and strand direction of MutLalpha endonuclease in mismatch repair. Proc. Natl. Acad. Sci. U.S.A. 2010, 107:16066-16071.
17. Bowman G.D., et al. Structural analysis of a eukaryotic sliding DNA clamp-clamp loader complex. Nature 2004, 429:724-730.
18. Iyer R.R., et al. MutLalpha and proliferating cell nuclear antigen share binding sites on MutSbeta. J. Biol. Chem. 2010, 285:11730-11739.
19. Shibahara K., et al. Replication-dependent marking of DNA by PCNA facilitates CAF-1-coupled inheritance of chromatin. Cell 1999, 96:575-585.
20. Schanz S., et al. Interference of mismatch and base excision repair during the processing of adjacent U/G mispairs may play a key role in somatic hypermutation. Proc. Natl. Acad. Sci. U.S.A. 2009, 106:5593-5598.
21. Pursell Z.F., et al. Yeast DNA polymerase epsilon participates in leading-strand DNA replication. Science 2007, 317:127-130.
22. Nick McElhinny S.A., et al. Abundant ribonucleotide incorporation into DNA by yeast replicative polymerases. Proc. Natl. Acad. Sci. U.S.A. 2010, 107:4949-4954.
23. Nick McElhinny S.A., et al. Genome instability due to ribonucleotide incorporation into DNA. Nat. Chem. Biol. 2010, 6:774-781.
24. Wei K., et al. Inactivation of Exonuclease 1 in mice results in DNA mismatch repair defects, increased cancer susceptibility, and male and female sterility. Genes Dev. 2003, 17:603-614.
25. Kadyrov F.A., et al. A possible mechanism for exonuclease 1-independent eukaryotic mismatch repair. Proc. Natl. Acad. Sci. U.S.A. 2009, 106:8495-8500.
26. McMurray C.T. Mechanisms of trinucleotide repeat instability during human development. Nat. Rev. Genet. 2010, 11:786-799.
27. Lopez Castel A., et al. Repeat instability as the basis for human diseases and as a potential target for therapy. Nat. Rev. Mol. Cell Biol. 2010, 11:165-170.
28. Tian L., et al. Mismatch recognition protein MutSbeta does not hijack (CAG)n hairpin repair in vitro. J. Biol. Chem. 2009, 284:20452-20456.
29. Panigrahi G.B., et al. Isolated short CTG/CAG DNA slip-outs are repaired efficiently by hMutSbeta, but clustered slip-outs are poorly repaired. Proc. Natl. Acad. Sci. U.S.A. 2010, 107:12593-12598.
30. McMurray C.T. Hijacking of the mismatch repair system to cause CAG expansion and cell death in neurodegenerative disease. DNA Repair (Amst.) 2008, 7:1121-1134.
31. Dragileva E., et al. Intergenerational and striatal CAG repeat instability in Huntington's disease knock-in mice involve different DNA repair genes. Neurobiol. Dis. 2009, 33:37-47.
32. Kim H.M., et al. Chromosome fragility at GAA tracts in yeast depends on repeat orientation and requires mismatch repair. EMBO J. 2008, 27:2896-2906.
33. Seriola A., et al. Huntington's and myotonic dystrophy hESCs: down-regulated trinucleotide repeat instability and mismatch repair machinery expression upon differentiation. Hum. Mol. Genet. 2011, 20:176-185.
34. Wells R.D. Non-B DNA conformations, mutagenesis and disease. Trends Biochem. Sci. 2007, 32:271-278.
35. Byun T.S., et al. Functional uncoupling of MCM helicase and DNA polymerase activities activates the ATR-dependent checkpoint. Genes Dev. 2005, 19:1040-1052.
36. Kovtun I.V., et al. Crosstalk of DNA glycosylases with pathways other than base excision repair. DNA Repair (Amst.) 2007, 6:517-529.
37. Peled J.U., et al. The biochemistry of somatic hypermutation. Annu. Rev. Immunol. 2008, 26:481-511.
38. Di Noia J.M., et al. Molecular mechanisms of antibody somatic hypermutation. Annu. Rev. Biochem. 2007, 76:1-22.
39. Longerich S., et al. AID in somatic hypermutation and class switch recombination. Curr. Opin. Immunol. 2006, 18:164-174.
40. Poltoratsky V., et al. Down-regulation of DNA polymerase beta accompanies somatic hypermutation in human BL2 cell lines. DNA Repair 2007, 6:244-253.
41. Hughes M.J., et al. The purification of a human mismatch-binding protein and identification of its associated ATPase and helicase activities. J. Biol. Chem. 1992, 267:23876-23882.
42. Larson E.D., et al. MutSalpha binds to and promotes synapsis of transcriptionally activated immunoglobulin switch regions. Curr. Biol. 2005, 15:470-474.
43. Stavnezer J. Complex regulation and function of activation-induced cytidine deaminase. Trends Immunol. 2011, 32:194-201.
44. Edelbrock M.A., et al. DNA mismatch repair efficiency and fidelity are elevated during DNA synthesis in human cells. Mutat. Res. 2009, 662:59-66.
45. Masih P.J., et al. Mismatch Repair proteins are recruited to replicating DNA through interaction with Proliferating Cell Nuclear Antigen (PCNA). Nucleic Acids Res. 2008, 36:67-75.
46. Hong Z., et al. Recruitment of mismatch repair proteins to the site of DNA damage in human cells. J. Cell Sci. 2008, 121:3146-3154.
47. Mastrocola A.S., et al. Nuclear reorganization of DNA mismatch repair proteins in response to DNA damage. DNA Repair (Amst.) 2010, 9:120-133.
48. Schroering A.G., et al. Rapid induction of chromatin-associated DNA mismatch repair proteins after MNNG treatment. DNA Repair (Amst.) 2008, 7:951-969.
49. Lehmann A.R. Ubiquitin-family modifications in the replication of DNA damage. FEBS Lett. 2011, 585:2772-2779.
50. Langerak P., et al. Somatic hypermutation of immunoglobulin genes: lessons from proliferating cell nuclear antigenK164R mutant mice. Philos. Trans. R. Soc. Lond. B: Biol. Sci. 2009, 364:621-629.
51. Roa S., et al. MSH2/MSH6 complex promotes error-free repair of AID-induced dU:G mispairs as well as error-prone hypermutation of A:T sites. PloS ONE 2010, 5:e11182.
52. Wiesendanger M., et al. Somatic hypermutation in MutS homologue (MSH)3-, MSH6-, and MSH3/MSH6-deficient mice reveals a role for the MSH2-MSH6 heterodimer in modulating the base substitution pattern. J. Exp. Med. 2000, 191:579-584.
53. Bardwell P.D., et al. Altered somatic hypermutation and reduced class-switch recombination in exonuclease 1-mutant mice. Nat. Immunol. 2004, 5:224-229.
54. Delbos F., et al. DNA polymerase eta is the sole contributor of A/T modifications during immunoglobulin gene hypermutation in the mouse. J. Exp. Med. 2007, 204:17-23.
55. Delbos F., et al. Contribution of DNA polymerase eta to immunoglobulin gene hypermutation in the mouse. J. Exp. Med. 2005, 201:1191-1196.
56. Chahwan R., et al. Mismatch-mediated error prone repair at the immunoglobulin genes. Biomed. Pharmacother. 2011, 65:529-536.
57. Cannavo E., et al. Characterization of the interactome of the human MutL homologues MLH1, PMS1, and PMS2. J. Biol. Chem. 2007, 282:2976-2986.
58. Kratz K., et al. Deficiency of FANCD2-associated nuclease KIAA1018/FAN1 sensitizes cells to interstrand crosslinking agents. Cell 2010, 142:77-88.
59. Liu T., et al. FAN1 acts with FANCI-FANCD2 to promote DNA interstrand cross-link repair. Science 2010, 329:693-696.
60. MacKay C., et al. Identification of KIAA1018/FAN1, a DNA repair nuclease recruited to DNA damage by monoubiquitinated FANCD2. Cell 2010, 142:65-76.
61. Smogorzewska A., et al. A genetic screen identifies FAN1, a Fanconi anemia-associated nuclease necessary for DNA interstrand crosslink repair. Mol. Cell 2010, 39:36-47.
62. Kadyrova L.Y., et al. CAF-I-dependent control of degradation of the discontinuous strands during mismatch repair. Proc. Natl. Acad. Sci. U.S.A. 2011, 108:2753-2758.
63. Javaid S., et al. Nucleosome remodeling by hMSH2-hMSH6. Mol. Cell 2009, 36:1086-1094.
64. Li F., et al. Evidence that nucleosomes inhibit mismatch repair in eukaryotic cells. J. Biol. Chem. 2009, 284:33056-33061.
65. Schöpf B., et al. The interplay between mismatch repair and chromatin assembly. Proc. Natl. Acad. Sci. U.S.A. 2012, 109:1895-1900.
66. Stojic L., et al. Mismatch repair and DNA damage signalling. DNA Repair 2004, 3:1091-1101.
67. 6-methylguanine lesions in human nuclear extracts. J. Biol. Chem. 2006, 281:22674-22683.
68. Zhao J., et al. Mismatch repair and nucleotide excision repair proteins cooperate in the recognition of DNA interstrand crosslinks. Nucleic Acids Res. 2009, 37:4420-4429.