Balancing AID and DNA repair during somatic hypermutation

Trends in Immunology

Volumn 30, Issue 4, 2009, Pages 173-181

  Liu, Man ^a,b   Schatz, David G ^a  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIVATION INDUCED CYTIDINE DEAMINASE; CYCLINE; CYTOSINE; DNA; IMMUNOGLOBULIN; POLYDEOXYRIBONUCLEOTIDE SYNTHASE; URACIL;

ANTIBODY AFFINITY; B CELL LYMPHOMA; B LYMPHOCYTE; B LYMPHOCYTE ACTIVATION; CARCINOGENESIS; CELL CYCLE; CHROMATIN STRUCTURE; DEAMINATION; DNA REPAIR; DNA STRAND BREAKAGE; GENE TRANSLOCATION; GENOME; HUMAN; MUTATION; NONHUMAN; ONCOGENE; ONCOGENE MYC; REVIEW; SOMATIC HYPERMUTATION;

ANIMALS; ANTIBODY AFFINITY; ANTIBODY DIVERSITY; B-LYMPHOCYTES; CELL TRANSFORMATION, NEOPLASTIC; CYTIDINE DEAMINASE; DNA; DNA REPAIR; EPIGENESIS, GENETIC; GENES, IMMUNOGLOBULIN; HUMANS; MUTATION; ONCOGENES; SOMATIC HYPERMUTATION, IMMUNOGLOBULIN; SUBSTRATE SPECIFICITY;

EID: 63149179802     PISSN: 14714906     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.it.2009.01.007     Document Type: Review

References (60)

1. Muramatsu M., et al. Specific expression of activation-induced cytidine deaminase (AID), a novel member of the RNA-editing deaminase family in germinal center B cells. J. Biol. Chem. 274 (1999) 18470-18476
2. Muramatsu M., et al. Class switch recombination and hypermutation require activation-induced cytidine deaminase (AID), a potential RNA editing enzyme. Cell 102 (2000) 553-563
3. Revy P., et al. Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2). Cell 102 (2000) 565-575
4. Di Noia J.M., and Neuberger M.S. Molecular mechanisms of antibody somatic hypermutation. Annu. Rev. Biochem. 76 (2007) 1-22
5. Teng G., and Papavasiliou F.N. Immunoglobulin somatic hypermutation. Annu. Rev. Genet. 41 (2007) 107-120
6. Peled J.U., et al. The biochemistry of somatic hypermutation. Annu. Rev. Immunol. 26 (2008) 481-511
7. Barnes D.E., and Lindahl T. Repair and genetic consequences of endogenous DNA base damage in mammalian cells. Annu. Rev. Genet. 38 (2004) 445-476
8. Li G.M. Mechanisms and functions of DNA mismatch repair. Cell Res. 18 (2008) 85-98
9. Kavli B., et al. Uracil in DNA-general mutagen, but normal intermediate in acquired immunity. DNA Repair (Amst.) 6 (2007) 505-516
10. Odegard V.H., and Schatz D.G. Targeting of somatic hypermutation. Nat. Rev. Immunol. 6 (2006) 573-583
11. Liu M., et al. Two levels of protection for the B cell genome during somatic hypermutation. Nature 451 (2008) 841-845
12. Shen H.M., et al. The TATA binding protein, c-Myc and survivin genes are not somatically hypermutated, while Ig and BCL6 genes are hypermutated in human memory B cells. Int. Immunol. 12 (2000) 1085-1093
13. Kuppers R., and Dalla-Favera R. Mechanisms of chromosomal translocations in B cell lymphomas. Oncogene 20 (2001) 5580-5594
14. Okazaki I.M., et al. Role of AID in tumorigenesis. Adv. Immunol. 94 (2007) 245-273
15. Pasqualucci L., et al. Hypermutation of multiple proto-oncogenes in B-cell diffuse large-cell lymphomas. Nature 412 (2001) 341-346
16. Wang C.L., et al. Genome-wide somatic hypermutation. Proc. Natl. Acad. Sci. U. S. A. 101 (2004) 7352-7356
17. Weill J.C., and Reynaud C.A. DNA polymerases in adaptive immunity. Nat. Rev. Immunol. 8 (2008) 302-312
18. Wu X., and Stavnezer J. DNA polymerase beta is able to repair breaks in switch regions and plays an inhibitory role during immunoglobulin class switch recombination. J. Exp. Med. 204 (2007) 1677-1689
19. Reynaud C.A., et al. What role for AID: mutator, or assembler of the immunoglobulin mutasome?. Nat. Immunol. 4 (2003) 631-638
20. Yang S.Y., and Schatz D.G. Targeting of AID-mediated sequence diversification by cis-acting determinants. Adv. Immunol. 94 (2007) 109-125
21. Odegard V.H., et al. Histone modifications associated with somatic hypermutation. Immunity 23 (2005) 101-110
22. Longerich S., et al. AID in somatic hypermutation and class switch recombination. Curr. Opin. Immunol. 18 (2006) 164-174
23. McBride K.M., et al. Regulation of class switch recombination and somatic mutation by AID phosphorylation. J. Exp. Med. 205 (2008) 2585-2594
24. Bachl J., et al. Involvement of Rad18 in somatic hypermutation. Proc. Natl. Acad. Sci. U. S. A. 103 (2006) 12081-12086
25. Arakawa H., et al. A role for PCNA ubiquitination in immunoglobulin hypermutation. PLoS Biol. 4 (2006) e366
26. Langerak P., et al. A/T mutagenesis in hypermutated immunoglobulin genes strongly depends on PCNAK164 modification. J. Exp. Med. 204 (2007) 1989-1998
27. Roa S., et al. Ubiquitylated PCNA plays a role in somatic hypermutation and class-switch recombination and is required for meiotic progression. Proc. Natl. Acad. Sci. U. S. A. 105 (2008) 16248-16253
28. Misteli T. Beyond the sequence: cellular organization of genome function. Cell 128 (2007) 787-800
29. Roix J.J., et al. Spatial proximity of translocation-prone gene loci in human lymphomas. Nat. Genet. 34 (2003) 287-291
30. Osborne C.S., et al. Myc dynamically and preferentially relocates to a transcription factory occupied by Igh. PLoS Biol. 5 (2007) e192
31. Franklin A., and Blanden R.V. The strand bias paradox of somatic hypermutation at immunoglobulin loci. Trends Immunol. 29 (2008) 167-172
32. Aoufouchi S., et al. Proteasomal degradation restricts the nuclear lifespan of AID. J. Exp. Med. 205 (2008) 1357-1368
33. Meyers M., et al. Cell cycle regulation of the human DNA mismatch repair genes hMSH2, hMLH1, and hPMS2. Cancer Res. 57 (1997) 206-208
34. Szadkowski M., and Jiricny J. Identification and functional characterization of the promoter region of the human MSH6 gene. Genes Chromosomes Cancer 33 (2002) 36-46
35. Hardeland U., et al. Cell cycle regulation as a mechanism for functional separation of the apparently redundant uracil DNA glycosylases TDG and UNG2. Nucleic Acids Res. 35 (2007) 3859-3867
36. Schrader C.E., et al. Activation-induced cytidine deaminase-dependent DNA breaks in class switch recombination occur during G1 phase of the cell cycle and depend upon mismatch repair. J. Immunol. 179 (2007) 6064-6071
37. Shen H.M., et al. Mutation of BCL-6 gene in normal B cells by the process of somatic hypermutation of Ig genes. Science 280 (1998) 1750-1752
38. Janz S. Myc translocations in B cell and plasma cell neoplasms. DNA Repair (Amst.) 5 (2006) 1213-1224
39. Robbiani D.F., et al. AID is required for the chromosomal breaks in c-myc that lead to c-myc/IgH translocations. Cell 135 (2008) 1028-1038
40. Bindra R.S., and Glazer P.M. Co-repression of mismatch repair gene expression by hypoxia in cancer cells: role of the Myc/Max network. Cancer Lett. 252 (2007) 93-103
41. Epeldegui M., et al. Infection of human B cells with Epstein-Barr virus results in the expression of somatic hypermutation-inducing molecules and in the accrual of oncogene mutations. Mol. Immunol. 44 (2007) 934-942
42. Machida K., et al. Hepatitis C virus induces a mutator phenotype: enhanced mutations of immunoglobulin and protooncogenes. Proc. Natl. Acad. Sci. U. S. A. 101 (2004) 4262-4267
43. Okazaki I.M., et al. Constitutive expression of AID leads to tumorigenesis. J. Exp. Med. 197 (2003) 1173-1181
44. Muto T., et al. Negative regulation of activation-induced cytidine deaminase in B cells. Proc. Natl. Acad. Sci. U. S. A. 103 (2006) 2752-2757
45. Shen H.M., et al. Expression of AID transgene is regulated in activated B cells but not in resting B cells and kidney. Mol. Immunol. 45 (2008) 1883-1892
46. Babbage G., et al. Immunoglobulin heavy chain locus events and expression of activation-induced cytidine deaminase in epithelial breast cancer cell lines. Cancer Res. 66 (2006) 3996-4000
47. Kou T., et al. Expression of activation-induced cytidine deaminase in human hepatocytes during hepatocarcinogenesis. Int. J. Cancer 120 (2007) 469-476
48. Endo Y., et al. Expression of activation-induced cytidine deaminase in human hepatocytes via NF-kappaB signaling. Oncogene 26 (2007) 5587-5595
49. Pauklin S., et al. Estrogen directly activates AID transcription and function. J. Exp. Med. 206 (2009) 99-111
50. Matsumoto Y., et al. Helicobacter pylori infection triggers aberrant expression of activation-induced cytidine deaminase in gastric epithelium. Nat. Med. 13 (2007) 470-476
51. Morgan H.D., et al. Activation-induced cytidine deaminase deaminates 5-methylcytosine in DNA and is expressed in pluripotent tissues: implications for epigenetic reprogramming. J. Biol. Chem. 279 (2004) 52353-52360
52. Schreck S., et al. Activation-induced cytidine deaminase (AID) is expressed in normal spermatogenesis but only infrequently in testicular germ cell tumours. J. Pathol. 210 (2006) 26-31
53. Rai K., et al. DNA demethylation in zebrafish involves the coupling of a deaminase, a glycosylase, and gadd45. Cell 135 (2008) 1201-1212
54. Gourzi P., et al. A role for activation-induced cytidine deaminase in the host response against a transforming retrovirus. Immunity 24 (2006) 779-786
55. Rogozin I.B., et al. Evolution and diversification of lamprey antigen receptors: evidence for involvement of an AID-APOBEC family cytosine deaminase. Nat. Immunol. 8 (2007) 647-656
56. Kothapalli N., et al. Cutting edge: a cis-acting DNA element targets AID-mediated sequence diversification to the chicken Ig light chain gene locus. J. Immunol. 180 (2008) 2019-2023
57. Blagodatski A., et al. A cis-acting diversification activator both necessary and sufficient for AID-mediated hypermutation. PLoS Genet. 5 (2009) e1000332
58. Michael N., et al. The E box motif CAGGTG enhances somatic hypermutation without enhancing transcription. Immunity 19 (2003) 235-242
59. Schoetz U., et al. E2A expression stimulates Ig hypermutation. J. Immunol. 177 (2006) 395-400
60. Fraenkel S., et al. Allelic 'choice' governs somatic hypermutation in vivo at the immunoglobulin kappa-chain locus. Nat. Immunol. 8 (2007) 715-722