Ongoing in vivo immunoglobulin class switch DNA recombination in chronic lymphocytic leukemia B cells

Journal of Immunology

Volumn 169, Issue 11, 2002, Pages 6594-6603

  Cerutti, Andrea ^a,c   Zan, Hong ^a   Kim, Edmund C ^a,b   Shah, Shefali ^a   Schattner, Elaine J ^b,c   Schaffer, András ^a,b   Casali, Paolo ^a,b  

^a Division of Allergy and Immunology   (United States)

^b Immunol Prog Grad Sch Med Sci   (United States)

^c WEILL CORNELL MEDICAL COLLEGE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CD19 ANTIGEN; CD40 LIGAND; CD5 ANTIGEN; CYTIDINE DEAMINASE; IMMUNOGLOBULIN A; IMMUNOGLOBULIN CLASS; IMMUNOGLOBULIN D; IMMUNOGLOBULIN E; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M; INTERLEUKIN 4; AICDA (ACTIVATION INDUCED CYTIDINE DEAMINASE); AICDA (ACTIVATION-INDUCED CYTIDINE DEAMINASE); CIRCULAR DNA; DNA; RECOMBINANT PROTEIN;

ARTICLE; B LYMPHOCYTE; CELL HETEROGENEITY; CHRONIC LYMPHATIC LEUKEMIA; CONTROLLED STUDY; DNA RECOMBINATION; GENE REARRANGEMENT; HUMAN; HUMAN CELL; IMMUNOCOMPETENT CELL; IN VIVO STUDY; PRIORITY JOURNAL; B CELL LEUKEMIA; BIOSYNTHESIS; DOWN REGULATION; DRUG EFFECT; ENZYMOLOGY; GENETIC RECOMBINATION; GENETICS; IMMUNOGLOBULIN GENE; IMMUNOLOGY; IN VITRO STUDY; METABOLISM; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PHENOTYPE;

B-LYMPHOCYTES; BASE SEQUENCE; CD40 LIGAND; CYTIDINE DEAMINASE; DNA, CIRCULAR; DNA, NEOPLASM; DOWN-REGULATION; HUMANS; IMMUNOGLOBULIN A; IMMUNOGLOBULIN G; IMMUNOGLOBULIN SWITCH REGION; INTERLEUKIN-4; LEUKEMIA, B-CELL, CHRONIC; MOLECULAR SEQUENCE DATA; PHENOTYPE; RECOMBINANT PROTEINS; RECOMBINATION, GENETIC;

EID: 0036884414     PISSN: 00221767     EISSN: None     Source Type: Journal    
DOI: 10.4049/jimmunol.169.11.6594     Document Type: Article

References (78)

1. Kipps, T. 1995. Chronic lymphocytic leukemia and related disorders. In William's Hematology. E. Beutler, M. A. Lichtman, B. S. Coller, and T. J. Kipps, eds. McGraw-Hill, New York, p. 1017.
2. Kipps, T. J., E. Tomhave, P. P. Chen, and D. A. Carson. 1988. Autoantibody-associated κ light chain variable region gene expressed in chronic lymphocytic leukemia with little or no somatic mutation: implications for etiology and immunotherapy. J. Exp. Med. 167:840.
3. Pratt, L. F., L. Rassenti, J. Larrick, B. Robbins, P. M. Banks, and T. J. Kipps. 1989. Ig V region gene expression in small lymphocytic lymphoma with little or no somatic hypermutation. J. Immunol. 143:699.
4. H5 genes used in common B cell chronic lymphocytic leukemia. J. Exp. Med. 177:1039.
5. + chronic lymphocytic leukemia B cells: a multiple time point analysis. J. Immunol. 160:820.
6. Kipps, T. J. 1989. The CD5 B cell. Adv. Immunol. 47:117.
7. Pascual, V., Y. J. Liu, A. Magalski, O. de Bouteiller, J. Banchereau, and J. D. Capra. 1994. Analysis of somatic mutation in five B cell subsets of human tonsil. J. Exp. Med. 180:329.
8. MacLennan, I. C. 1994. Germinal centers. Annu. Rev. Immunol. 12:117.
9. Liu, Y. J., F. Malisan, O. de Bouteiller, C. Guret, S. Lebecque, J. Banchereau, F. C. Mills, E. E. Max, and H. Martinez-Valdez. 1996. Within germinal centers, isotype switching of immanoglobulin genes occurs after the onset of somatic mutation. Immunity 4:241.
10. Schroeder, H. W., Jr., and G. Dighiero. 1994. The pathogenesis of chronic lymphocytic leukemia: analysis of the antibody repertoire. Immunol. Today 15:288.
11. + chronic lymphocytic leukemia B cells. J. Exp. Med. 181:1507.
12. Dono, M., S. Hashimoto, F. Fais, V. Trejo, S. L. Allen, S. M. Lichtman, P. Schulman, V. P. Vinciguerra, B. Sellars, P. K. Gregersen, et al. 1996. Evidence for progenitors of chronic lymphocytic leukemia B cells that undergo intraclonal differentiation and diversification. Blood 87:1586
13. H genes among subsets of chronic lymphocytic leukemia defined by chromosomal abnormalities. Blood 89:4153.
14. Fais, F., F. Ghiotto, S. Hashimoto, B. Sellars, A. Valetto, S. L. Allen, P. Schulman, V. P. Vinciguerra, K. Rai, L. Z. Rassenti, et al. 1998. Chronic lymphocytic leukemia B cells express restricted sets of mutated and unmutated antigen receptors. J. Clin. Invest. 102:1515.
15. Damle, R. N., T. Wasil, F. Fais, F. Ghiotto, A. Valetto, S. L. Allen, A. Buchbinder, D. Budman, K. Dittmar, J. Kolitz, et al. 1999. Ig V gene mutation status and CD38 expression as novel prognostic indicators in chronic lymphocytic leukemia. Blood 94:1840.
16. Hamblin, T. J., J. A. Orchard, R. E. Ibbotson, Z. Davis, P. W. Thomas, F. K. Stevenson, and D. G. Oscier. 2002. CD38 expression and immunoglobulin variable region mutations are independent prognostic variables in chronic lymphocytic leukemia, but CD38 expression may vary during the course of the disease. Blood 99:1023.
17. Klein, U., Y. Tu, G. A. Stolovitzky, M. Mattioli, G. Cattoretti, H. Husson, A. Freedman, G. Inghirami, L. Cro, L. Baldini, et al. 2001. Gene expression profiling of B cell chronic lymphocytic leukemia reveals a homogeneous phenotype related to memory B cells. J. Exp. Med. 194:1625.
18. Rosenwald, A., A. A. Alizadeh, G. Widhopf, R. Simon, R. E. Davis, X. Yu, L. Yang, O. K. Pickeral, L. Z. Rassenti, J. Powell, et al. 2001. Relation of gene expression phenotype to immunoglobulin mutation genotype in B cell chronic lymphocytic leukemia. J. Exp. Med. 194:1639.
19. H mutations in chronic lymphocytic leukemia. Blood 95:3534.
20. H gene diversification. J. Exp. Med. 196:629.
21. Bertoli, L. F., H. Kubagawa, G. V. Borzillo, M. Mayumi, J. T. Prchal, J. F. Kearney, J. R. Durant, and M. D. Cooper. 1987. Analysis with antiidiotype antibody of a patient with chronic lymphocytic leukemia and a large cell lymphoma (Richter's syndrome). Blood 70:45.
22. Borzillo, G. V., M. D. Cooper, H. Kubagawa, A. Landay, and P. D. Burrows. 1987. Isotype switching in human B lymphocyte malignancies occurs by DNA deletion: evidence for nonspecific switch recombination. J. Immunol. 139:1326.
23. Borzillo, G. V., M. D. Cooper, L. F. Bertoli, A. Landay, R. Castleberry, and P. D. Burrows. 1988. Lineage and stage specificity of isotype switching in humans. J. Immunol. 141:3625.
24. Efremov, D. G., M. Ivanovski, F. D. Batista, G. Pozzato, and O. R. Burrone. 1996. IgM-producing chronic lymphocytic leukemia cells undergo immunoglobulin isotype-switching without acquiring somatic mutations. J. Clin. Invest. 98:290.
25. Malisan, F., A. C. Fluckiger, S. Ho, C. Guret, J. Banchereau, and H. Martinez-Valdez. 1996. B-chronic lymphocytic leukemias can undergo isotype switching in vivo and can be induced to differentiate and switch in vitro. Blood 87:717.
26. + chronic lymphocytic leukemia B cells. J. Clin. Invest. 98:1659.
27. + B cell line. J. Immunol. 160:2145.
28. Cerutti, A., A. Schaffer, H. Zan, H.-C. Liou, R. G. Goodwin, and P. Casali. 1998. CD30 is a CD40-inducible molecule that negatively regulates CD40-mediated immunoglobulin class switching in non-antigen-selected human B cells. Immunity 9:247.
29. Zan, H., A. Cerutti, A. Schaffer, P. Dramitinos, and P. Casali. 1998. CD40 engagement triggers switching to IgA1 and IgA2 in human B cells through induction of endogenous TGF-β: evidence for TGF-β-dependent but not IL-10-dependent direct Sμ→α and sequential Sμ→γ, Sγ→Sα DNA recombination. J. Immunol. 162:5217.
30. Schaffer, A., A. Cerutti, H. Zan, and P. Casali. 1999. The evolutionary conserved sequence upstream of the human Sγ3 region is a functional promoter: synergistic activation by CD40 ligand and IL-4 via distinct cis regulatory elements. J. Immunol. 162:5327.
31. Muramatsu, M., K. Kinoshita, S. Fagarasan, S. Yamada, Y. Shinkai, and T. Honjo. 2000. Class switch recombination and hypermutation require activation-induced cytidine deaminase (AID), a potential RNA edifing enzyme. Cell 102:553.
32. Okazaki, I., K. Kinoshita, M. Muramatsu, K. Yoshikawa, and T. Honjo. 2002. The AID enzyme induces class switch recombination in fibroblasts. Nature 416:340.
33. Manis, J. P., M. Tian, and F. W. Alt. 2002. Mechanism and control of class-switch recombination. Trends Immunol. 23:31.
34. Snapper, C. M., K. B. Marcu, and P. Zelazowski. 1997. The immunoglobulin class switch: beyond "accessibility." Immunity 6:217.
35. Iwasato, T., A. Shimizu, T. Honjo, and H. Yamagishi. 1990. Circular DNA is excised by immunoglobulin class switch recombination. Cell 62:143.
36. Kinoshita, K., M. Harigai, S. Fagarasan, M. Muramatsu, and T. Honjo. 2001. A hallmark of active class switch recombination: transcripts directed by I promoters on looped-out circular DNAs. Proc. Natl. Acad. Sci. USA 98:12620.
37. Fagarasan, S., K. Kinoshita, M. Muramatsu, K. Ikuta, and T. Honjo. 2001. In situ class switching and differentiation to IgA-producing cells in the gut lamina propria. Nature 413:639.
38. Harris, N. L., E. S. Jaffe, H. Stein, P. M. Banks, J. K. Chan, M. L. Cleary, G. Delsol, C. De Wolf-Peeters, B. Falini, and K. C. Gatter. 1994. A revised European-American classification of lymphoid neoplasms: a proposal from the International Lymphoma Study Group. Blood 84:1361.
39. + T cells by leukemia impairs isotype switching in normal B cells. Nat. Immunol. 2:150.
40. + B cells. J. Immunol. 165:786.
41. Zan, H., A. Komori, Z. Li, A. Cerutti, A. Schaffer, M. Flajinik, M. Diaz, and P. Casali. 2001. The translesion DNA polymerase ζ plays a major role in Ig and bcl-6 somatic hypermutation. Immunity 14:1.
42. + peripheral blood B cells expressing the CD27 cell surface antigen carry somatically mutated variable region genes: CD27 as a general marker for somatically mutated (memory) B cells. J. Exp. Med. 188:1679.
43. Liu, Y. J., C. Barthelemy, O. de Bouteiller, C. Arpin, I. Durand, and J. Banchereau. 1995. Memory B cells from human tonsils colonize mucosal epithelium and directly present antigen to T cells by rapid up-regulation of B7-1 and B7-2. Immunity 2:239.
44. + B cell subset with phenotypical and functional characteristics of germinal center B cells. Eur. J. Immunol. 26:1712.
45. + tonsillar plasma cells are rescued from apoptosis by bone marrow fibroblasts. J. Exp. Med. 183:227.
46. Jego, G., N. Robillard, D. Puthier, M. Amiot, F. Accard, D. Pineau, J. L. Harousseau, R. Bataille, and C. Pellat-Deceunynck. 1999. Reactive plasmacytoses are expansions of plasmablasts retaining the capacity to differentiate into plasma cells. Blood 94:701.
47. + B) cells make somatically hypermutated high affinity IgM rheumatoid factors. J. Immunol. 151:473.
48. Rothe, M., V. Sarma, V. M. Dixit, and D. V. Geoddel. 1995. TRAF2-mediated activation of NF-κB by TNF receptor 2 and CD40. Science 269:1424.
49. Réigner, C. H., H. Y. Song, X. Gao, D. V. Goeddel, Z. Cao, and M. Rothe. 1997. Identification and characterization of an IκB kinase. Cell 90:373.
50. Shen, H. M., A. Peters, B. Baron, X. Zhu, and U. Storb. 1998. Mutation of BCL-6 gene in normal B cells by the process of somatic hypermutation of Ig genes. Science 280:1750.
51. Pasqualucci, L., A. Neri, L. Baldini, R. Dalla-Favera, and A. Migliazza. 2000. BCL-6 mutations are associated with immunoglobulin variable heavy chain mutations in B-cell chronic lymphocytic leukemia. Cancer Res. 60:5644.
52. Furman, R. R., Z. Asgary, J. O. Mascarenhas, H. C. Liou, and E. J. Schattner. 2000. Modulation of NF-κB activity and apoptosis in chronic lymphocytic leukemia B cells. J. Immunol. 164:2200.
53. Damle, R. N., F. Ghiotto, A. Valetto, E. Albesiano, F. Fais, X. J. Yan, C. P. Sison, S. L. Allen, J. Kolitz, P. Schulman, V. P. Vinciguerra, P. Budde, J. Frey, K. R. Rai, M. Ferrarini, and N. Chiorazzi. 2002. B-cell chronic lymphocytic leukemia cells express a surface membrane phenotype of activated, antigen-experienced B lymphocytes. Blood 99:4087.
54. Fluckiger, A. C., P. Garrone, I. Durand, J. P. Galizzi, and J. Banchereau. 1993. Interleukin 10 (IL-10) upregulates functional high affinity IL-2 receptors on normal and leukemic B lymphocytes. J. Exp. Med. 178:1473.
55. Cerutti, A., L. Trentin, R. Zambello, R. Sancetta, A. Milani, C. Tassinari, F. Adami, C. Agostini, and G. Semenzato. 1996. The CD5/CD72 receptor system is coexpressed with several functionally relevant counterstructures on human B cells and delivers a critical signaling activity. J. Immunol. 157:1854.
56. Granziero, L., P. Ghia, P. Circosta, D. Gottardi, G. Strola, M. Geuna, L. Montagna, P. Piccoli, M. Chilosi, and F. Caligaris-Cappio. 2001. Survivin is expressed on CD40 stimulation and interfaces proliferation and apoptosis in B-cell chronic lymphocytic leukemia. Blood 97:2777.
57. + T cells by producing CCL22. Eur. J. Immunol. 32:1403.
58. H gene analysis of interfollicular small lymphocytic lymphoma provides evidence for two types. Am. J. Pathol. 157:1063.
59. Bernal. A., R. D. Pastore, Z. Asgary, S. A. Keller. E. Cesarman, H. C. Liou, and E. J. Schattner. 2001. Survival of leukemic B cells promoted by engagement of the antigen receptor. Blood 98:3050.
60. Ohno, T., B. N. Smir, D. D. Weisenburger, R. D. Gascoyne, S. D. Hinrichs, and W. C. Chan. 1998. Origin of the Hodgkin/Reed-Stemberg cells in chronic lymphocytic leukemia with "Hodgkin's transformation." Blood 91:1757.
61. Kanzler, H., R. Kuppers, S. Helmes, H. H. Wacker, A. Chott, M. L. Hansmann, and K. Rajewsky. 2000. Hodgkin and Reed-Sternberg-like cells in B-cell chronic lymphocytic leukemia represent the outgrowth of single germinal-center B-cell-derived clones: potential precursors of Hodgkin and Reed-Sternberg cells in Hodgkin's disease. Blood 95:1023.
62. Fagarasan, S., and T. Honjo. 2000. T-independent immune response: new aspects of B cell biology. Science 290:89.
63. Toellner, K. M., W. E. Jenkinson, D. R. Taylor, M. Khan, D. M. Sze, D. M. Sansom, C. G. Vinuesa, and I. C. MacLennan. 2002. Low-level hypermutation in T cell-independent germinal centers compared with high mutation rates associated with T cell-dependent germinal centers. J. Exp. Med. 195:383.
64. Lifinskiy, M. B., B. Nardelli, D. M. Hilbert, B. He, A. Schaffer, P. Casali, and A. Cerutti. 2002. DCs induce CD40-independent immunoglobulin class switching through BLyS and APRIL. Nat. Immunol. 3:822.
65. Faili, A., S. Aoufouchi, Q. Gueranger, C. Zober, A. Leon, B. Bertocci, J. C. Weill, and C. A. Reynaud. 2002. AID-dependent somatic hypermutation occurs as a DNA single-strand event in the BL2 cell line. Nat. Immunol. 3:815.
66. Beaume, A., A. Brizard, B. Dreyfus, and J. L. Preud'homme. 1994. High incidence of serum monoclonal Igs detected by a sensitive immunoblotting technique in B-cell chronic lymphocytic leukemia. Blood 84:1216.
67. Turner, C. A. J., D. H. Mark, and M. M. Davis. 1994. Blimp-1, a novel zinc finger-containing protein that can drive the maturation of B lymphocytes onto immunoglobulin-secreting cells. Cell 77:297.
68. Messika, E. J., P. S. Lu, Y.-J. Sung, T. Yao, J.-T. Chi, Y.-H. Chien, and M. M. Davis. 1988. Differential effect of B lymphocyte-induced maturation protein (Blimp-1) expression on cell fate during B cell development. J. Exp. Med. 188:515.
69. Zupo, S., G. Cutrona, M. Mangiola, and M. Ferrarini. 2002. Role of surface IgM and IgD on survival of the cells from B-cell chronic lymphocytic leukemia. Blood 99:2277.
70. Fermand, J. P., J. M. James, P. Herait, and J. C. Brouet. 1985. Associated chronic lymphocytic leukemia and multiple myeloma: origin from a single clone. Blood 66:291.
71. Cantwell, M., T. Hua, J. Pappas, and T. J. Kipps. 1997. Acquired CD40-ligand deficiency in chronic lymphocytic leukemia. Nat. Med. 3:984.
72. + B-cell subset. Science 236:77.
73. Lotz, M., E. Ranheim, and T. J. Kipps. 1994. Transforming growth factor beta as endogenous growth inhibitor of chronic lymphocytic leukemia B cells. J. Exp. Med. 179:999.
74. Caligaris-Cappio, F., and T. J. Hamblin. 1999. B-cell chronic lymphocytic leukemia: a bird of a different feather. J. Clin. Oncol. 17:399.
75. Shevach, E. M. 2000. Suppressor T cells: rebirth, function and homeostasis. Curr. Biol. 10: R572.
76. Cuneo, A., C. de Angeli, M. G. Roberti, N. Piva, R. Bigoni, D. Gandini, G. M. Rigolin, S. Moretti, P. Cavazzini, L. del Senno, et al. 1996. Richter's syndrome in a case of atypical chronic lymphocytic leukaemia with the t(11; 14)(q13;q32): role for a p53 exon 7 gene mutation. Br. J. Haematol. 92:375.
77. H genes in lymphoid malignancies with t(2;14)(p13;q32) translocation involving the BCL11A gene. Leukemia 16:937.
78. Satterwhite, E., T. Sonoki, T. G. Willis, L. Harder, R. Nowak, E. L. Arriola, H. Liu, H. P. Price, S. Gesk, D. Steinemann, et al. 2001. The BCL11 gene family: involvement of BCL11A in lymphoid malignancies. Blood 98:3413.