Targeting AID to the Ig genes

Advances in Experimental Medicine and Biology

Volumn 596, Issue , 2007, Pages 93-109

  Li, Ziqiang ^a   Luo, Zhonghui ^a   Ronai, Diana ^b   Li Kuang, Fei ^a   Peled, Jonathan U ^a   Iglesias Ussel, Maria D ^a   Scharff, Matthew D ^a  

^a ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF COLORADO SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIVATION INDUCED CYTIDINE DEAMINASE; HISTONE H3; TRICHOSTATIN A;

B LYMPHOCYTE; CHROMATIN STRUCTURE; CONFERENCE PAPER; GENE MUTATION; HUMAN; IMMUNOGLOBULIN GENE; NONHUMAN; PRIORITY JOURNAL; SOMATIC HYPERMUTATION;

EID: 84934436158     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: 10.1007/0-387-46530-8_9     Document Type: Conference Paper

References (71)

1. M. Muramatsu, K. Kinoshita, S. Fagarasan, S. Yamada, Y. Shinkai and T. Honjo, Class switch recombination and hypermutation require activation-induced cytidine deaminase (AID), a potential RNA editing enzyme, Cell, 102, 553-563 (2000).
2. K. Rajewsky, I. Forster and A. Cumano, Evolutionary and somatic selection of the antibody repertoire in the mouse. [Review], Science, 238, 1088-94 (1987).
3. D. McKean, K. Huppi, M. Bell, L. Staudt, W. Gerhard and M. Weigert, Generation of antibody diversity in the immune response of BALB/c mice to influenza virus hemagglutinin, Proc Natl Acad Sci U S A, 81, 3180-4 (1984).
4. I. B. Rogozin and M. Diaz, Cutting edge: DGYW/WRCH is a better predictor of mutability at G:C bases in Ig hypermutation than the widely accepted RGYW/WRCY motif and probably reflects a two-step activation-induced cytidine deaminase-triggered process, J Immunol, 172, 3382-4 (2004).
5. C. Rada and C. Milstein, The intrinsic hypermutability of antibody heavy and light chain genes decays exponentially, Embo J, 20, 4570-6 (2001).
6. V. Poltoratsky, M. F. Goodman and M. D. Scharff, Error Prone Candidates Vie for Somatic Mutation, J. Exp. Med., 192, F27-F30 (2000).
7. J. Di Noia and M. S. Neuberger, Altering the pathway of immunoglobulin hypermutation by inhibiting uracil-DNA glycosylase, Nature, 419, 43-8 (2002).
8. E. D. Larson, W. J. Cummings, D. W. Bednarski and N. Maizels, MRE11/RAD50 cleaves DNA in the AID/UNG-dependent pathway of immunoglobulin gene diversification, Mol Cell, 20, 367-75 (2005).
9. Z. Li, C. J. Woo, M. D. Iglesias-Ussel, D. Ronai and M. D. Scharff, The generation of antibody diversity through somatic hypermutation and class switch recombination, Genes Dev, 18, 1-11 (2004).
10. J. Chaudhuri and F. W. Alt, Class-switch recombination: interplay of transcription, DNA deamination and DNA repair, Nat Rev Immunol, 4, 541-52 (2004).
11. U. Storb, Progress in understanding the mechanism and consequences of somatic hypermutation, Immunol Rev, 162, 5-11 (1998).
12. J. Stavnezer, Molecular processes that regulate class switching, Curr Top Microbiol Immunol, 245, 127-68 (2000).
13. R. Bransteitter, P. Pham, M. D. Scharff and M. F. Goodman, Activation-induced cytidine deaminase deaminates deoxycytidine on single-stranded DNA but requires the action of RNase, Proc Natl Acad Sci U S A, 100, 4102-7 (2003).
14. P. Pham, R. Bransteitter, J. Petruska and M. F. Goodman, Processive AID-catalysed cytosine deamination on single-stranded DNA simulates somatic hypermutation, Nature, 424, 103-107 (2003).
15. J. Chaudhuri, M. Tian, C. Khuong, K. Chua, E. Pinaud and F. W. Alt, Transcription-targeted DNA deamination by the AID antibody diversification enzyme, Nature, 422, 726-30 (2003).
16. K. Yu and M. R. Lieber, Nucleic acid structures and enzymes in the immunoglobulin class switch recombination mechanism, DNA Repair (Amst), 2, 1163-74 (2003).
17. C. Milstein, M. S. Neuberger and R. Staden, Both DNA strands of antibody genes are hypermutation targets, Proc Natl Acad Sci U S A, 95, 8791-4 (1998).
18. H. M. Shen and U. Storb, Activation-induced cytidine deaminase (AID) can target both DNA strands when the DNA is supercoiled, Proc Natl Acad Sci U S A, 101, 12997-3002 (2004).
19. H. M. Shen, N. Michael, N. Kim and U. Storb, 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, 1085-93 (2000).
20. I. M. Okazaki, H. Hiai, N. Kakazu, S. Yamada, M. Muramatsu, K. Kinoshita and T. Honjo, Constitutive expression of AID leads to tumorigenesis, J Exp Med, 197, 1173-81 (2003).
21. M. Muramatsu, V. S. Sankaranand, S. Anant, M. Sugai, K. Kinoshita, N. O. Davidson and T. Honjo, 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, 18470-18476 (1999).
22. S. Ito, H. Nagaoka, R. Shinkura, N. Begum, M. Muramatsu, M. Nakata and T. Honjo, 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, 1975-80 (2004).
23. K. M. McBride, V. Barreto, A. R. Ramiro, P. Stavropoulos and M. C. Nussenzweig, Somatic hypermutation is limited by CRM1-dependent nuclear export of activation-induced deaminase, J Exp Med, 199, 1235-44 (2004).
24. U. Basu, J. Chaudhuri, C. Alpert, S. Dutt, S. Ranganath, G. Li, J. P. Schrum, J. P. Manis and F. W. Alt, The AID antibody diversification enzyme is regulated by protein kinase A phosphorylation, Nature, 438, 508-11 (2005).
25. V. T. Ta, H. Nagaoka, N. Catalan, A. Durandy, A. Fischer, K. Imai, S. Nonoyama, J. Tashiro, M. Ikegawa, S. Ito, K. Kinoshita, M. Muramatsu and T. Honjo, AID mutant analyses indicate requirement for class-switch-specific cofactors, Nat Immunol, 4, 843-848 (2003).
26. V. Barreto, B. Reina-San-Martin, A. R. Ramiro, K. M. McBride and M. C. Nussenzweig, C-Terminal Deletion of AID Uncouples Class Switch Recombination from Somatic Hypermutation and Gene Conversion, Mol Cell, 12, 501-8 (2003).
27. R. Shinkura, S. Ito, N. A. Begum, H. Nagaoka, M. Muramatsu, K. Kinoshita, Y. Sakakibara, H. Hijikata and T. Honjo, Separate domains of AID are required for somatic hypermutation and class-switch recombination, Nat Immunol, 5, 707-12 (2004).
28. J. Chaudhuri, C. Khuong and F. W. Alt, Replication protein A interacts with AID to promote deamination of somatic hypermutation targets, Nature, 430, 992-8 (2004).
29. L. Pasqualucci, P. Neumeister, T. Goossens, G. Nanjangud, R. S. Chaganti, R. Kuppers and R. Dalla-Favera, Hypermutation of multiple proto-oncogenes in B-cell diffuse large-cell lymphomas, Nature, 412, 341-6 (2001).
30. Z. Luo, D. Ronai and M. D. Scharff, The role of activation-induced cytidine deaminase in antibody diversification, immunodeficiency, and B-cell malignancies, J Allergy Clin Immunol, 114, 726-35 (2004).
31. R. Mostoslavsky, F. W. Alt and C. H. Bassing, Chromatin dynamics and locus accessibility in the immune system, Nat Immunol, 4, 603-6 (2003).
32. S. Denépoux, D. Razanajaona, D. Blanchard, G. Meffre, J. D. Capra, J. Banchereau and S. Lebecque, Induction of somatic mutation in a human B cell line in vitro, Immunity, 6, 35-46 (1997).
33. C. J. Woo, A. Martin and M. D. Scharff, Induction of hypermutation is associated with modifications of variable region chromatin in BL2 cells, Immunity, 19, 479-89 (2003).
34. V. H. Odegard, S. T. Kim, S. M. Anderson, M. J. Shlomchik and D. G. Schatz, Histone modifications associated with somatic hypermutation, Immunity, 23, 101-10 (2005).
35. Z. Li, Z. Luo and M. D. Scharff, 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, 15428-33 (2004).
36. Y. Nambu, M. Sugai, H. Gonda, C. G. Lee, T. Katakai, Y. Agata, Y. Yokota and A. Shimizu, Transcription-coupled events associating with immunoglobulin switch region chromatin, Science, 302, 2137-40 (2003).
37. L. Wang, N. Whang, R. Wuerffel and A. L. Kenter, AID-dependent histone acetylation is detected in immunoglobulin S regions, J Exp Med, 203, 215-26 (2006).
38. C. J. Jolly, S. D. Wagner, C. Rada, N. Klix, C. Milstein and M. S. Neuberger, The targeting of somatic hypermutation, Semin Immunol, 8, 159-68 (1996).
39. K. Tumas-Brundage, K. A. Vora, A. M. Giusti and T. Manser, Characterization of the cis-acting elements required for somatic hypermutation of murine antibody V genes using conventional transgenic and transgene homologous recombination approaches., Semin. Immunol., 8, 141-50 (1996).
40. Y. Fukita, H. Jacobs and K. Rajewsky, Somatic hypermutation in the heavy chain locus correlates with transcription, Immunity, 9, 105-114 (1998).
41. A. G. Betz, C. Milstein, A. Gonzalez-Fernandez, R. Pannell, T. Larson and M. S. Neuberger, Elements regulating somatic hypermutation of an immunoglobulin kappa gene: critical role for the intron enhancer/matrix attachment region, Cell, 77, 239-48 (1994).
42. N. van der Stoep, J. R. Gorman and F. W. Alt, Reevaluation of 3′Ekappa function in stage- and lineage-specific rearrangement and somatic hypermutation, Immunity, 8, 743-50 (1998).
43. C. L. Morvan, E. Pinaud, C. Decourt, A. Cuvillier and M. Cogne, The immunoglobulin heavy-chain locus hs3b and hs4 3′ enhancers are dispensable for VDJ assembly and somatic hypermutation, Blood, 102, 1421-7 (2003).
44. J. Yelamos, N. Klix, B. Goyenechea, F. Lozano, Y. L. Chui, A. Gonzalez Fernandez, R. Pannell, M. S. Neuberger and C. Milstein, Targeting of non-Ig sequences in place of the V segment by somatic hypermutation, Nature, 376, 225-9 (1995).
45. M. S. Gordon, C. M. Kanegai, J. R. Doerr and R. Wall, Somatic hypermutation of the B cell receptor genes B29 (Igbeta, CD79b) and mb1 (Igalpha, CD79a), Proc Natl Acad Sci U S A, 100, 4126-31 (2003).
46. A. Martin and M. D. Scharff, Somatic hypermutation of the AID transgene in B and non-B cells, Proc Natl Acad Sci U S A, 99, 12304-12308 (2002).
47. K. Yoshikawa, I. M. Okazaki, T. Eto, K. Kinoshita, M. Muramatsu, H. Nagaoka and T. Honjo, AID enzyme-induced hypermutation in an actively transcribed gene in fibroblasts, Science, 296, 2033-2036 (2002).
48. C. L. Wang, R. A. Harper and M. Wabl, Genome-wide somatic hypermutation, Proc Natl Acad Sci U S A, 101, 7352-6 (2004).
49. J. Y. Parsa, W. Basit, C. L. Wang, J. L. Gommerman, J. R. Carlyle and A. Martin, AID mutates a non-immunoglobulin transgene independent of chromosomal position, Mol Immunol, 44, 567-75 (2006).
50. M. M. Lin, N. S. Green, W. Zhang and M. D. Scharff, The effects of Eμ, 3′ (hs 1,2) and 3′k enhancers on mutation of an Ig-VDJ-Cγ2a immunoglobulin heavy gene in cultured B cells, Int Immunol., 10, 1121-1129 (1998).
51. C. L. Wang, D. C. Yang and M. Wabl, Directed molecular evolution by somatic hypermutation, Protein Eng Des Sel, 17, 659-64 (2004).
52. A. Martin and M. D. Scharff, AID and mismatch repair in antibody diversification., Nat Rev Immunol, 2, 605-614 (2002).
53. D. Ronai, M. Berru and M. J. Shulman, Variegated expression of the endogenous immunoglobulin heavy-chain gene in the absence of the intronic locus control region, Mol Cell Biol, 19, 7031-40 (1999).
54. D. Ronai, M. Berru and M. J. Shulman, Positive and negative transcriptional states of a variegating immunoglobulin heavy chain (IgH) locus are maintained by a cis-acting epigenetic mechanism, J Immunol, 169, 6919-27 (2002).
55. A. E. Oancea, M. Berru and M. J. Shulman, Expression of the (recombinant) endogenous immunoglobulin heavy-chain locus requires the intronic matrix attachment regions, Mol Cell Biol, 17, 2658-68 (1997).
56. D. Ronai, M. D. Iglesias-Ussel, M. Fan, M. J. Shulman and M. D. Scharff, Complex regulation of somatic hypermutation by cis-acting sequences in the endogenous IgH gene in hybridoma cells, Proc Natl Acad Sci U S A, 102, 11829-34 (2005).
57. D. Ronai, M. Berru and M. J. Shulman, The epigenetic stability of the locus control region-deficient IgH locus in mouse hybridoma cells is a clonally varying, heritable feature, Genetics, 167, 411-21 (2004).
58. P. Ernst and S. T. Smale, Combinatorial regulation of transcription. I: General aspects of transcriptional control. [Review], Immunity, 2, 311-9 (1995).
59. A. Komori, Z. Xu, X. Wu, H. Zan and P. Casali, Biased dA/dT somatic hypermutation as regulated by the heavy chain intronic iEmu enhancer and 3′Ealpha enhancers in human lymphoblastoid B cells, Mol Immunol, 43, 1817-26 (2006).
60. T. Perlot, F. W. Alt, C. H. Bassing, H. Suh and E. Pinaud, Elucidation of IgH intronic enhancer functions via germ-line deletion, Proc Natl Acad Sci U S A, 102, 14362-7 (2005).
61. T. A. Kunkel and D. A. Erie, DNA mismatch repair, Annu Rev Biochem, 74, 681-710 (2005).
62. R. R. Iyer, A. Pluciennik, V. Burdett and P. L. Modrich, DNA mismatch repair: functions and mechanisms, Chem Rev, 106, 302-23 (2006).
63. L. Edelmann and W. Edelmann, Loss of DNA mismatch repair function and cancer predisposition in the mouse: animal models for human hereditary nonpolyposis colorectal cancer, Am J Med Genet C Semin Med Genet, 129, 91-9 (2004).
64. K. Wei, R. Kucherlapati and W. Edelmann, Mouse models for human DNA mismatch-repair gene defects, Trends Mol Med, 8, 346-53 (2002).
65. S. Frey, B. Bertocci, F. Delbos, L. Quint, J. C. Weill and C. A. Reynaud, Mismatch repair deficiency interferes with the accumulation of mutations in chronically stimulated B cells and not with the hypermutation process, Immunity, 9, 127-34 (1998).
66. P. D. Bardwell, C. J. Woo, K. Wei, Z. Li, A. Martin, S. Z. Sack, T. Parris, W. Edelmann and M. D. Scharff, Altered somatic hypermutation and reduced class-switch recombination in exonuclease 1-mutant mice, Nat Immunol, 5, 224-9 (2004).
67. Z. Li, C. Zhao, M. D. Iglesias-Ussel, Z. Polonskaya, M. Zhuang, G. Guozhe Yang, Z. Luo, W. Edelmann and M. D. Scharff, The Mismatch Repair Protein Msh6 Influences the in vivo AID Targeting to the Ig Locus, Immunity, 24, 393-403 (2006).
68. C. E. Schrader, E. K. Linehan, S. N. Mochegova, R. T. Woodland and J. Stavnezer, Inducible DNA breaks in Ig S regions are dependent on AID and UNG, J Exp Med, 202, 561-8 (2005).
69. Z. Li, S. J. Scherer, D. Ronai, M. D. Iglesias-Ussel, J. U. Peled, P. D. Bardwell, M. Zhuang, K. Lee, A. Martin, W. Edelmann and M. D. Scharff, 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, 47-59 (2004).
70. S. A. Martomo, W. W. Yang and P. J. Gearhart, A role for Msh6 but not Msh3 in somatic hypermutation and class switch recombination, J Exp Med, 200, 61-8 (2004).
71. G. Yang, S. J. Scherer, S. S. Shell, K. Yang, M. Kim, M. Lipkin, R. Kucherlapati, R. D. Kolodner and W. Edelmann, Dominant effects of an Msh6 missense mutation on DNA repair and cancer susceptibility, Cancer Cell, 6, 139-50 (2004).