Activation-induced deaminase: light and dark sides

Trends in Molecular Medicine

Volumn 12, Issue 9, 2006, Pages 432-439

  de Yébenes, Virginia G ^a   Ramiro, Almudena R ^a  

^a Centro Nacional de Investigaciones Oncológicas   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIVATION INDUCED DEAMINASE; ATM PROTEIN; DEAMINASE; DEOXYRIBONUCLEOPROTEIN; HISTONE H2AX; NIBRIN; PROTEIN MSH2; PROTEIN MSH6; PROTEIN P19; PROTEIN P53; UNCLASSIFIED DRUG; URACIL DNA GLYCOSYLTRANSFERASE;

AMINO ACID SEQUENCE; CHROMOSOME TRANSLOCATION; ENZYME ACTIVATION; ENZYME ACTIVITY; ENZYME REGULATION; EPIGENETICS; GENE ACTIVATION; GENE CONTROL; GENE FUNCTION; GENE MUTATION; GENE SEQUENCE; GENE TARGETING; GENETIC RECOMBINATION; GENETIC TRANSCRIPTION; LYMPHOMA; NONHUMAN; PROTEIN EXPRESSION; PROTEIN FUNCTION; REVIEW; SOMATIC HYPERMUTATION;

ANIMALS; ANTIBODY DIVERSITY; B-LYMPHOCYTES; CELL TRANSFORMATION, NEOPLASTIC; CYTIDINE DEAMINASE; EPIGENESIS, GENETIC; GENE EXPRESSION REGULATION, ENZYMOLOGIC; HUMANS; IMMUNOGLOBULIN CLASS SWITCHING; LYMPHOMA; SOMATIC HYPERMUTATION, IMMUNOGLOBULIN; TRANSLOCATION, GENETIC;

EID: 33747886272     PISSN: 14714914     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.molmed.2006.07.001     Document Type: Review

References (85)

1. Honjo T., et al. Molecular mechanism of class switch recombination: linkage with somatic hypermutation. Annu. Rev. Immunol. 20 (2002) 165-196
2. Li Z., et al. The generation of antibody diversity through somatic hypermutation and class switch recombination. Genes Dev. 18 (2004) 1-11
3. 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
4. Longerich S., et al. AID in somatic hypermutation and class switch recombination. Curr. Opin. Immunol. 18 (2006) 164-174
5. Barreto V.M., et al. Activation-induced deaminase: controversies and open questions. Trends Immunol. 26 (2005) 90-96
6. Chaudhuri J., and Alt F.W. Class-switch recombination: interplay of transcription, DNA deamination and DNA repair. Nat. Rev. Immunol. 4 (2004) 541-552
7. Neuberger M.S., et al. Somatic hypermutation at A.T pairs: polymerase error versus dUTP incorporation. Nat. Rev. Immunol. 5 (2005) 171-178
8. Maizels N. Immunoglobulin gene diversification. Annu. Rev. Genet. 39 (2005) 23-46
9. Besmer E., et al. The regulation of somatic hypermutation. Curr. Opin. Immunol. 16 (2004) 241-245
10. 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
11. 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
12. Durandy A., et al. Hyper-immunoglobulin M syndromes caused by intrinsic B-lymphocyte defects. Immunol. Rev. 203 (2005) 67-79
13. Yoshikawa K., et al. AID enzyme-induced hypermutation in an actively transcribed gene in fibroblasts. Science 296 (2002) 2033-2036
14. Okazaki I.M., et al. The AID enzyme induces class switch recombination in fibroblasts. Nature 416 (2002) 340-345
15. Bransteitter R., et al. Activation-induced cytidine deaminase deaminates deoxycytidine on single-stranded DNA but requires the action of RNase. Proc. Natl. Acad. Sci. U. S. A. 100 (2003) 4102-4107
16. Chaudhuri J., et al. Transcription-targeted DNA deamination by the AID antibody diversification enzyme. Nature 422 (2003) 726-730
17. Dickerson S.K., et al. AID mediates hypermutation by deaminating single stranded DNA. J. Exp. Med. 197 (2003) 1291-1296
18. Pham P., et al. Processive AID-catalysed cytosine deamination on single-stranded DNA simulates somatic hypermutation. Nature 424 (2003) 103-107
19. Petersen-Mahrt S.K., et al. AID mutates E. coli suggesting a DNA deamination mechanism for antibody diversification. Nature 418 (2002) 99-103
20. Di Noia J., and Neuberger M.S. Altering the pathway of immunoglobulin hypermutation by inhibiting uracil-DNA glycosylase. Nature 419 (2002) 43-48
21. Rada C., et al. Immunoglobulin isotype switching is inhibited and somatic hypermutation perturbed in UNG-deficient mice. Curr. Biol. 12 (2002) 1748-1755
22. Rada C., et al. Mismatch recognition and uracil excision provide complementary paths to both Ig switching and the A/T-focused phase of somatic mutation. Mol. Cell 16 (2004) 163-171
23. Nambu Y., et al. Transcription-coupled events associating with immunoglobulin switch region chromatin. Science 302 (2003) 2137-2140
24. Honjo T., et al. AID to overcome the limitations of genomic information. Nat. Immunol. 6 (2005) 655-661
25. Zhou C., et al. Human activation-induced cytidine deaminase is induced by IL-4 and negatively regulated by CD45: implication of CD45 as a Janus kinase phosphatase in antibody diversification. J. Immunol. 170 (2003) 1887-1893
26. Dedeoglu F., et al. Induction of activation-induced cytidine deaminase gene expression by IL-4 and CD40 ligation is dependent on STAT6 and NF-κB. Int. Immunol. 16 (2004) 395-404
27. Sayegh C.E., et al. E-proteins directly regulate expression of activation-induced deaminase in mature B cells. Nat. Immunol. 4 (2003) 586-593
28. Gonda H., et al. The balance between Pax5 and Id2 activities is the key to AID gene expression. J. Exp. Med. 198 (2003) 1427-1437
29. Yadav A., et al. Identification of a ubiquitously active promoter of the murine activation-induced cytidine deaminase (AICDA) gene. Mol. Immunol. 43 (2006) 529-541
30. McBride K.M., et al. Somatic hypermutation is limited by CRM1-dependent nuclear export of activation-induced deaminase. J. Exp. Med. 199 (2004) 1235-1244
31. Ito S., et al. Activation-induced cytidine deaminase shuttles between nucleus and cytoplasm like apolipoprotein B mRNA editing catalytic polypeptide 1. Proc. Natl. Acad. Sci. U. S. A. 101 (2004) 1975-1980
32. Chaudhuri J., et al. Replication protein A interacts with AID to promote deamination of somatic hypermutation targets. Nature 430 (2004) 992-998
33. Basu U., et al. The AID antibody diversification enzyme is regulated by protein kinase A phosphorylation. Nature 438 (2005) 508-511
34. Pasqualucci L., et al. PKA-mediated phosphorylation regulates the function of activation-induced deaminase (AID) in B cells. Proc. Natl. Acad. Sci. U. S. A. 103 (2006) 395-400
35. McBride K.M., et al. Regulation of hypermutation by activation-induced cytidine deaminase phosphorylation. Proc. Natl. Acad. Sci. U. S. A. 103 (2006) 8798-8803
36. 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
37. Li Z., et al. The mismatch repair protein Msh6 influences the in vivo AID targeting to the Ig locus. Immunity 24 (2006) 393-403
38. Longerich S., et al. The very 5′ end and the constant region of Ig genes are spared from somatic mutation because AID does not access these regions. J. Exp. Med. 202 (2005) 1443-1454
39. Ramiro A.R., et al. Transcription enhances AID-mediated cytidine deamination by exposing single-stranded DNA on the nontemplate strand. Nat. Immunol. 4 (2003) 452-456
40. Sohail A., et al. Human activation-induced cytidine deaminase causes transcription-dependent, strand-biased C to U deaminations. Nucleic Acids Res. 31 (2003) 2990-2994
41. Michael N., et al. The E box motif CAGGTG enhances somatic hypermutation without enhancing transcription. Immunity 19 (2003) 235-242
42. Li Z., et al. Differential regulation of histone acetylation and generation of mutations in switch regions is associated with Ig class switching. Proc. Natl. Acad. Sci. U. S. A. 101 (2004) 15428-15433
43. Wang L., et al. AID-dependent histone acetylation is detected in immunoglobulin S regions. J. Exp. Med. 203 (2006) 215-226
44. Woo C.J., et al. Induction of somatic hypermutation is associated with modifications in immunoglobulin variable region chromatin. Immunity 19 (2003) 479-489
45. Odegard V.H., et al. Histone modifications associated with somatic hypermutation. Immunity 23 (2005) 101-110
46. Bachl J., et al. Increased transcription levels induce higher mutation rates in a hypermutating cell line. J. Immunol. 166 (2001) 5051-5057
47. Okazaki I., et al. Activation-induced cytidine deaminase links class switch recombination and somatic hypermutation. Ann. N. Y. Acad. Sci. 987 (2003) 1-8
48. Poltoratsky V.P., et al. Recombinogenic phenotype of human activation-induced cytosine deaminase. J. Immunol. 172 (2004) 4308-4313
49. Okazaki I.M., et al. Constitutive expression of AID leads to tumorigenesis. J. Exp. Med. 197 (2003) 1173-1181
50. 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
51. Pasqualucci L., et al. BCL-6 mutations in normal germinal center B cells: evidence of somatic hypermutation acting outside Ig loci. Proc. Natl. Acad. Sci. U. S. A. 95 (1998) 11816-11821
52. Landowski T.H., et al. Mutations in the Fas antigen in patients with multiple myeloma. Blood 90 (1997) 4266-4270
53. Gordon M.S., et al. Somatic hypermutation of the B cell receptor genes B29 (Igβ, CD79b) and mb1 (Igα, CD79a). Proc. Natl. Acad. Sci. U. S. A. 100 (2003) 4126-4131
54. Migliazza A., et al. Frequent somatic hypermutation of the 5′ noncoding region of the BCL6 gene in B-cell lymphoma. Proc. Natl. Acad. Sci. U. S. A. 92 (1995) 12520-12524
55. Pasqualucci L., et al. Hypermutation of multiple proto-oncogenes in B-cell diffuse large-cell lymphomas. Nature 412 (2001) 341-346
56. Greeve J., et al. Expression of activation-induced cytidine deaminase in human B-cell non-Hodgkin lymphomas. Blood 101 (2003) 3574-3580
57. Pasqualucci L., et al. Expression of the AID protein in normal and neoplastic B cells. Blood 104 (2004) 3318-3325
58. Kuppers R., and Dalla-Favera R. Mechanisms of chromosomal translocations in B cell lymphomas. Oncogene 20 (2001) 5580-5594
59. Kuppers R. Mechanisms of B-cell lymphoma pathogenesis. Nat. Rev. Cancer 5 (2005) 251-262
60. Adams J.M., et al. Transgenic models of lymphoid neoplasia and development of a pan-hematopoietic vector. Oncogene 18 (1999) 5268-5277
61. Kovalchuk A.L., et al. IL-6 transgenic mouse model for extraosseous plasmacytoma. Proc. Natl. Acad. Sci. U. S. A. 99 (2002) 1509-1514
62. Ramiro A.R., et al. AID is required for c-myc/IgH chromosome translocations in vivo. Cell 118 (2004) 431-438
63. Potter M. Neoplastic development in plasma cells. Immunol. Rev. 194 (2003) 177-195
64. Unniraman S., et al. Identification of an AID-independent pathway for chromosomal translocations between the Igh switch region and Myc. Nat. Immunol. 5 (2004) 1117-1123
65. Ramiro A.R., et al. Role of genomic instability and p53 in AID-induced c-myc-Igh translocations. Nature 440 (2006) 105-109
66. Roschke V., et al. Chromosomal translocations deregulating c-myc are associated with normal immune responses. Oncogene 14 (1997) 3011-3016
67. Franco S., et al. H2AX prevents DNA breaks from progressing to chromosome breaks and translocations. Mol. Cell 21 (2006) 201-214
68. Phan R.T., and Dalla-Favera R. The BCL6 proto-oncogene suppresses p53 expression in germinal-centre B cells. Nature 432 (2004) 635-639
69. Rada C., et al. Hot spot focusing of somatic hypermutation in MSH2-deficient mice suggests two stages of mutational targeting. Immunity 9 (1998) 135-141
70. Schrader C.E., et al. Reduced isotype switching in splenic B cells from mice deficient in mismatch repair enzymes. J. Exp. Med. 190 (1999) 323-330
71. 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. 191 (2000) 579-584
72. Li Z., et al. Examination of Msh6- and Msh3-deficient mice in class switching reveals overlapping and distinct roles of MutS homologues in antibody diversification. J. Exp. Med. 200 (2004) 47-59
73. Martomo S.A., et al. A role for Msh6 but not Msh3 in somatic hypermutation and class switch recombination. J. Exp. Med. 200 (2004) 61-68
74. Bemark M., et al. Somatic hypermutation in the absence of DNA-dependent protein kinase catalytic subunit (DNA-PK(cs)) or recombination-activating gene (RAG)1 activity. J. Exp. Med. 192 (2000) 1509-1514
75. Manis J.P., et al. IgH class switch recombination to IgG1 in DNA-PKcs-deficient B cells. Immunity 16 (2002) 607-617
76. Bosma G.C., et al. DNA-dependent protein kinase activity is not required for immunoglobulin class switching. J. Exp. Med. 196 (2002) 1483-1495
77. Manis J.P., et al. Ku70 is required for late B cell development and immunoglobulin heavy chain class switching. J. Exp. Med. 187 (1998) 2081-2089
78. Casellas R., et al. Ku80 is required for immunoglobulin isotype switching. EMBO J. 17 (1998) 2404-2411
79. Reina-San-Martin B., et al. H2AX is required for recombination between immunoglobulin switch regions but not for intra-switch region recombination or somatic hypermutation. J. Exp. Med. 197 (2003) 1767-1778
80. Manis J.P., et al. 53BP1 links DNA damage-response pathways to immunoglobulin heavy chain class-switch recombination. Nat. Immunol. 5 (2004) 481-487
81. Ward I.M., et al. 53BP1 is required for class switch recombination. J. Cell Biol. 165 (2004) 459-464
82. Lumsden J.M., et al. Immunoglobulin class switch recombination is impaired in Atm-deficient mice. J. Exp. Med. 200 (2004) 1111-1121
83. Reina-San-Martin B., et al. ATM is required for efficient recombination between immunoglobulin switch regions. J. Exp. Med. 200 (2004) 1103-1110
84. Reina-San-Martin B., et al. Genomic instability, endoreduplication, and diminished Ig class-switch recombination in B cells lacking Nbs1. Proc. Natl. Acad. Sci. U. S. A. 102 (2005) 1590-1595
85. Kracker S., et al. Nibrin functions in Ig class-switch recombination. Proc. Natl. Acad. Sci. U. S. A. 102 (2005) 1584-1589