Immunoglobulin class switch recombination: Study through human natural mutants

Philosophical Transactions of the Royal Society B: Biological Sciences

Volumn 364, Issue 1517, 2009, Pages 577-582

  Durandy, Anne ^a,b,c,d  

^a INSERM   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c Centre D'Étude des Déficits Immunitaires   (France)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

Activation induced (cytidine) deaminase; Class switch recombination; Double strand DNA breaks; Mismatch repair; Non homologous end joining repair

Indexed keywords

ENZYME ACTIVITY; MODELING; MUTATION; PROTEIN; RECOMBINATION;

EID: 60049097624     PISSN: 09628436     EISSN: 14712970     Source Type: Journal    
DOI: 10.1098/rstb.2008.0210     Document Type: Conference Paper

References (54)

1. Alt, J. R., Bouska, A., Fernandez, M. R., Cerny, R. L., Xiao, H. & Eischen, C. M. 2005 Mdm2 binds to Nbs1 at sites of DNA damage and regulates double strand break repair. J. Biol. Chem. 280, 18 771-18 781. (doi:10.1074/jbc.M413387200)
2. Barreto, V., Reina-San-Martin, B., Ramiro, A. R., McBride, K. M. & Nussenzweig, M. C. 2003 C-terminal deletion of AID uncouples class switch recombination from somatic hypermutation and gene conversion. Mol. Cell 12, 501-508. (doi:10.1016/S1097-2765(03)00309-5)
3. Basu, U., Chaudhuri, J., Alpert, C., Dutt, S., Ranganath, S., Li, G., Schrum, J. P., Manis, J. P. & Alt, F. W. 2005 The AID antibody diversification enzyme is regulated by protein kinase A phosphorylation. Nature 438, 508-511. (doi:10.1038/nature04255)
4. Bransteitter, R., Pham, P., Scharff, M. D. & Goodman, M. F. 2003 Activation-induced cytidine deaminase deaminates deoxycytidine on single-stranded DNA but requires the action of RNase. Proc. Natl Acad. Sci. USA 100, 4102-4107. (doi:10.1073/pnas.0730835100)
5. Breitfeld, D., Ohl, L., Kremmer, E., Ellwart, J., Sallusto, F., Lipp, M. & Forster, R. 2000 Follicular B helper T cells express CXC chemokine receptor 5, localize to B cell follicles, and support immunoglobulin production. J. Exp. Med. 192, 1545-1552. (doi:10.1084/jem.192.11.1545)
6. Buck, D. et al. 2006 Cernunnos, a novel nonhomologous endjoining factor, is mutated in human immunodeficiency with microcephaly. Cell 124, 287-299. (doi:10.1016/j.cell.2005.12.030)
7. Casellas, R. et al. 1998 Ku80 is required for immunoglobulin isotype switching. EMBO J. 17, 2404-2411. (doi:10.1093/emboj/17.8. 2404)
8. Celeste, A. et al. 2002 Genomic instability in mice lacking histone H2AX. Science 296, 922-927. (doi:10.1126/science.1069398)
9. Chaudhuri, J., Khuong, C. & Alt, F. W. 2004 Replication protein A interacts with AID to promote deamination of somatic hypermutation targets. Nature 430, 992-998. (doi:10.1038/nature02821)
10. Durandy, A. et al. 1997 Abnormal CD40-mediated activation pathway in B lymphocytes from patients with hyper-IgM syndrome and normal CD40 ligand expression. J. Immunol. 158, 2576-2584.
11. Durandy, A., Taubenheim, N., Peron, S. & Fischer, A. 2007 Pathophysiology of B-cell intrinsic immunoglobulin class switch recombination deficiencies. Adv. Immunol. 94, 275-306. (doi:10.1016/S0065- 2776(06)94009-7)
12. Ehrenstein, M. R. & Neuberger, M. S. 1999 Deficiency in Msh2 affects the efficiency and local sequence specificity of immunoglobulin class-switch recombination: parallels with somatic hypermutation. EMBO J. 18, 3484-3490. (doi:10.1093/emboj/18.12.3484)
13. Ferrari, S. et al. 2001 Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM. Proc. Natl Acad. Sci USA 98, 12 614-12 619. (doi:10.1073/pnas.221456898)
14. Guikema, J. E., Linehan, E. K., Tsuchimoto, D., Nakabeppu, Y., Strauss, P. R., Stavnezer, J. & Schrader, C. E. 2007 APE1- and APE2-dependent DNA breaks in immunoglobulin class switch recombination. J. Exp. Med. 204, 3017-3026. (doi:10.1084/jem.20071289)
15. Honjo, T. 2002 Does AID need another aid? Nat. Immunol. 3, 800-801. (doi:10.1038/ni0902-800)
16. Imai, K. et al. 2003a Hyper-IgM syndrome type 4 with a B lymphocyte-intrinsic selective deficiency in Ig class-switch recombination. J. Clin. Invest. 112, 136-142.
17. Imai, K. et al. 2003b Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination. Nat. Immunol. 4, 1023-1028. (doi:10.1038/ni974)
18. Iwasato, T., Shimizu, A., Honjo, T. & Yamagishi, H. 1990 Circular DNA is excised by immunoglobulin class switch recombination. Cell 62, 143-149. (doi:10.1016/0092-8674(90)90248-D)
19. Kaartinen, M., Griffiths, G. M., Markham, A. F. & Milstein, C. 1983 mRNA sequences define an unusually restricted IgG response to 2-phenyloxazolone and its early diversification. Nature 304, 320-324. (doi:10.1038/304320a0)
20. Korthauer, U. et al. 1993 Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM. Nature 361, 539-541. (doi:10.1038/361539a0)
21. Lahdesmaki, A., Taylor, A. M., Chrzanowska, K. H. & Pan-Hammarstrom, Q. 2004 Delineation of the role of the Mre11 complex in class switch recombination. J. Biol. Chem. 279, 16 479-16 487. (doi:10.1074/jbc.M312796200)
22. Lou, Z. et al. 2006 MDC1 maintains genomic stability by participating in the amplification of ATM-dependent DNA damage signals. Mol. Cell 21, 187-200. (doi:10.1016/j.molcel.2005.11.025)
23. Macduff, D. A., Neuberger, M. S. & Harris, R. S. 2005 MDM2 can interact with the C-terminus of AID but it is inessential for antibody diversification in DT40 B cells. Mol. Immunol. 43, 1099-1108. (doi:10.1016/j.molimm.2005.07.024)
24. Manis, J. P., van der Stoep, N., Tian, M., Ferrini, R., Davidson, L., Bottaro, A. & Alt, F. W. 1998 Class switching in B cells lacking 30 immunoglobulin heavy chain enhancers. J. Exp. Med. 188, 1421-1431. (doi:10.1084/jem.188.8.1421)
25. Manis, J. P., Morales, J. C., Xia, Z., Kutok, J. L., Alt, F.W. & Carpenter, P. B. 2004 53BP1 links DNA damage-response pathways to immunoglobulin heavy chain class-switch recombination. Nat. Immunol. 5, 481-487. (doi:10.1038/ni1067)
26. McBride, K. M., Gazumyan, A., Woo, E. M., Barreto, V. M., Robbiani, D. F., Chait, B. T. & Nussenzweig, M. C. 2006 Regulation of hypermutation by activation-induced cytidine deaminase phosphorylation. Proc. Natl Acad. Sci. USA 103, 8798-8803. (doi:10.1073/pnas.0603272103)
27. Muramatsu, M., Kinoshita, K., Fagarasan, S., Yamada, S., Shinkai, Y. & Honjo, T. 2000 Class switch recombination and hypermutation require activation-induced cytidine deaminase (AID), a potential RNA editing enzyme. Cell 102, 553-563. (doi:10.1016/S0092-8674(00)00078-7)
28. Notarangelo, L. D., Duse, M. & Ugazio, A. G. 1992 Immunodeficiency with hyper-IgM (HIM). Immunodefic. Rev. 3, 101-121.
29. Okazaki, I. M., Kinoshita, K., Muramatsu, M., Yoshikawa, K. & Honjo, T. 2002 The AID enzyme induces class switch recombination in fibroblasts. Nature 416, 340-345. (doi:10.1038/nature727)
30. Pan-Hammarstrom, Q., Dai, S., Zhao, Y., van Dijk-Hard, I. F., Gatti, R. A., Borresen-Dale, A. L. & Hammarstrom, L. 2003 ATMis not required in somatic hypermutation of VH, but is involved in the introduction of mutations in the switch mu region. J. Immunol. 170, 3707-3716.
31. Pan, Q., Petit-Frere, C., Lahdesmaki, A., Gregorek, H., Chrzanowska, K. H. & Hammarstrom, L. 2002 Alternative end joining during switch recombination in patients with ataxia-telangiectasia. Eur. J. Immunol. 32, 1300-1308. (doi:10.1002/1521-4141(200205)32:5〈1300::AID- IMMU1300〉3.0.CO;2-L)
32. Paull, T. T., Rogakou, E. P., Yamazaki, V., Kirchgessner, C.U., Gellert, M. & Bonner, W. M. 2000 A critical role for histone H2AX in recruitment of repair factors to nuclear foci after DNA damage. Curr. Biol. 10, 886-895. (doi:10.1016/S0960-9822(00)00610-2)
33. Peron, S. et al. 2007 A primary immunodeficiency characterized by defective immunoglobulin class switch recombination and impaired DNA repair. J. Exp. Med. 204, 1207-1216. (doi:10.1084/jem.20070087)
34. Phung, Q. H., Winter, D. B., Alrefai, R. & Gearhart, P. J. 1999 Hypermutation in Ig V genes from mice deficient in the MLH1 mismatch repair protein. J. Immunol. 162, 3121-3124.
35. Rada, C., Williams, G. T., Nilsen, H., Barnes, D. E., Lindahl, T. & Neuberger, M. S. 2002 Immunoglobulin isotype switching is inhibited and somatic hypermutation perturbed in UNG-deficient mice. Curr. Biol. 12, 1748-1755. (doi:10.1016/S0960-9822(02)01215-0)
36. Rada, C., Di Noia, J. M. & Neuberger, M. S. 2004 Mismatch recognition and uracil excision provide complementary paths to both Ig switching and the A/T-focused phase of somatic mutation. Mol. Cell 16, 163-171. (doi:10.1016/j.molcel.2004.10.011)
37. Ramiro, A. R. et al. 2006 Role of genomic instability and p53 in AID-induced c-myc-Igh translocations. Nature 440, 105-109. (doi:10.1038/nature04495)
38. Reina-San-Martin, B., Difilippantonio, S., Hanitsch, L., Masilamani, R. F., Nussenzweig, A. & Nussenzweig, M. C. 2003 H2AX is required for recombination between immunoglobulin switch regions but not for intra-switch region recombination or somatic hypermutation. J. Exp. Med. 197, 1767-1778. (doi:10.1084/jem.20030569)
39. Reina-San-Martin, B., Nussenzweig, M. C., Nussenzweig, A. & Difilippantonio, S. 2005 Genomic instability, endore-duplication, and diminished Ig class-switch recombination in B cells lacking Nbs1. Proc. Natl Acad. Sci USA 102, 1590-1595. (doi:10.1073/pnas.0406289102)
40. Revy, P. et al. 2000 Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the hyper-IgM syndrome (HIGM2). Cell 102, 565-575. (doi:10.1016/S0092-8674(00)00079-9)
41. Rogakou, E. P., Pilch, D. R., Orr, A. H., Ivanova, V. S. & Bonner, W. M. 1998 DNA double-stranded breaks induce histone H2AX phosphorylation on serine 139. J Biol. Chem. 273, 5858-5868. (doi:10.1074/jbc.273.10. 5858)
42. Rolink, A., Melchers, F. & Andersson, J. 1996 The SCID but not the RAG-2 gene product is required for S mu-S epsilon heavy chain class switching. Immunity 5, 319-330. (doi:10.1016/S1074-7613(00)80258-7)
43. Schrader, C. E., Edelmann, W., Kucherlapati, R. & Stavnezer, J. 1999 Reduced isotype switching in splenic B cells from mice deficient in mismatch repair enzymes. J. Exp. Med. 190, 323-330. (doi:10.1084/jem.190.3. 323)
44. Schrader, C. E., Guikema, J. E., Linehan, E. K., Selsing, E. & Stavnezer, J. 2007 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, 6064-6071.
45. Sekine, H. et al. 2007 Role for Msh5 in the regulation of Ig class switch recombination. Proc. Natl Acad. Sci. USA 104, 7193-7198. (doi:10.1073/pnas.0700815104)
46. Shen, H. M., Ratnam, S. & Storb, U. 2005 Targeting of the activation-induced cytosine deaminase is strongly influenced by the sequence and structure of the targeted DNA. Mol. Cell Biol. 25, 10 815-10 821. (doi:10.1128/MCB.25.24.10815-10821.2005)
47. Storb, U., Peters, A., Klotz, E., Kim, N., Shen, H. M., Hackett, J., Rogerson, B. & Martin, T. E. 1998 Cis-acting sequences that affect somatic hypermutation of Ig genes. Immunol. Rev. 162, 153-160. (doi:10.1111/j.1600-065X.1998.tb01424.x)
48. Ta, V. T. et al. 2003 AID mutant analyses indicate requirement for class-switch-specific cofactors. Nat. Immunol. 4, 843-848. (doi:10.1038/ni964)
49. Theunissen, J. W., Kaplan, M. I., Hunt, P. A., Williams, B. R., Ferguson, D. O., Alt, F. W. & Petrini, J. H. 2003 Checkpoint failure and chromosomal instability without lymphomagenesis in Mre11(ATLD1/ATLD1) mice. Mol. Cell 12, 1511-1523. (doi:10.1016/S1097-2765(03)00455-6)
50. Ward, I. M., Minn, K., van Deursen, J. & Chen, J. 2003 p53 Binding protein 53BP1 is required for DNA damage responses and tumor suppression in mice. Mol. Cell Biol. 23, 2556-2563. (doi:10.1128/MCB.23.7.2556- 2563.2003)
51. Winter, D. B. et al. 1998 Altered spectra of hypermutation in antibodies from mice deficient for the DNA mismatch repair protein PMS2. Proc. Natl Acad. Sci USA 95, 6953-6958. (doi:10.1073/pnas.95.12. 6953)
52. Wu, X., Geraldes, P., Platt, J. L. & Cascalho, M. 2005 The double-edged sword of activation-induced cytidine deaminase. J. Immunol. 174, 934-941.
53. Xue, K., Rada, C. & Neuberger, M. S. 2006 The in vivo pattern of AID targeting to immunoglobulin switch regions deduced from mutation spectra in msh2K/K ungK/K mice. J. Exp. Med. 203, 2085-2094. (doi:10.1084/jem.20061067)
54. Yu, K., Chedin, F., Hsieh, C. L., Wilson, T. E. & Lieber, M. R. 2003 R-loops at immunoglobulin class switch regions in the chromosomes of stimulated B cells. Nat. Immunol. 4, 442-451. (doi:10.1038/ni919)