The molecular basis and biological significance of VH replacement

Immunological Reviews

Volumn 197, Issue , 2004, Pages 231-242

  Zhang, Zhixin ^a,b,c,d   Burrows, Peter D ^a,d,f   Cooper, Max D ^{a,b,d,e,g,h,i}  

^a The University of Alabama at Birmingham   (United States)

^b University of Alabama at Birmingham   (United States)

^c UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^d University of Alabama at Birmingham   (United States)

^e University of Alabama at Birmingham   (United States)

^f UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^g University of Alabama at Birmingham   (United States)

^h HOWARD HUGHES MEDICAL INSTITUTE   (United States)

ⁱ UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CELL RECEPTOR; IMMUNOGLOBULIN HEAVY CHAIN;

B LYMPHOCYTE; CELL DIFFERENTIATION; GENE ACTIVATION; HUMAN; KNOCKOUT MOUSE; LEUKEMIA CELL LINE; MOLECULAR DYNAMICS; NONHUMAN; PRIORITY JOURNAL; REVIEW; SIGNAL TRANSDUCTION;

ANIMALS; B-LYMPHOCYTES; CELL DIFFERENTIATION; CELL LINE; GENE EXPRESSION REGULATION; GENE REARRANGEMENT, B-LYMPHOCYTE, HEAVY CHAIN; HUMANS; IMMUNOGLOBULIN HEAVY CHAINS; IMMUNOGLOBULIN LIGHT CHAINS; IMMUNOGLOBULIN VARIABLE REGION; LEUKEMIA; MICE; MODELS, IMMUNOLOGICAL; SIGNAL TRANSDUCTION;

EID: 0942290431     PISSN: 01052896     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.0105-2896.2004.0107.x     Document Type: Review

References (90)

1. Tonegawa S. Somatic generation of antibody diversity. Nature 1983;302:575-581.
2. Rajewsky K. Clonal selection and learning in the antibody system. Nature 1996;381:751-758.
3. Bassing CH, Swat W, Alt FW. The mechanism and regulation of chromosomal v(d)j recombination. Cell 2002;109:S45-S55.
4. Schatz DG, Baltimore D. Stable expression of immunoglobulin gene V(D)J recombinase activity by gene transfer into 3T3 fibroblasts. Cell 1988;53:107-115.
5. Schatz DG, Oettinger MA, Baltimore D. The V(D)J recombination activating gene, RAG-1. Cell 1989;59:1035-1048.
6. Oettinger MA, Schatz DG, Gorka C, Baltimore D. RAG-1 and RAG-2, adjacent genes that synergistically activate V(D)J recombination. Science 1990;248:1517-1523.
7. Lewis SM. The mechanism of V(D)J joining: lessons from molecular, immunological, and comparative analyses. Adv Immunol 1994;56:27-150.
8. Difilippantonio MJ, McMahan CJ, Eastman QM, Spanopoulou E, Schatz DG. RAG1 mediates signal sequence recognition and recruitment of RAG2 in V(D)J recombination. Cell 1996;87:253-262.
9. Ramsden DA, McBlane JF, van Gent D, Gellert M. Distinct DNA sequence and structure requirements for the two steps of V(D)J recombination signal cleavage. EMBO J 1996;15:3197-3206.
10. Mombaerts P, Iacomini J, Johnson RS, Herrup K, Tonegawa S, Papaioannou VE. RAG-1-deficient mice have no mature B and T lymphocytes. Cell 1992;68:869-877.
11. Shinkai Y, et al. RAG-2-deficient mice lack mature lymphocytes owing to inability to initiate V(D)J rearrangement. Cell 1992;68:855-867.
12. Shinkai Y, et al. Restoration of T cell development in RAG-2-deficient mice by functional TCR transgenes. Science 1993;259:822-825.
13. Ramsden DA, Paull TT, Gellert M. Cell-free V(D)J recombination. Nature 1997;388:488-491.
14. Roth DB, Nakajima PB, Menetski JP, Bosma MJ, Gellert M. V(D)J recombination in mouse thymocytes: double-strand breaks near T cell receptor delta rearrangement signals. Cell 1992;69:41-53.
15. Roth DB, Zhu C, Gellert M. Characterization of broken DNA molecules associated with V(D)J recombination. Proc Natl Acad Sci USA 1993;90:10788-10792.
16. Schlissel M, Constantinescu A, Morrow T, Baxter M, Peng A. Double-strand signal sequence breaks in V(D)J recombination are blunt, 5′- phosphorylated, RAG-dependent, and cell cycle regulated. Genes Dev 1993;7:2520-2532.
17. Swanson PC, Desiderio S. V(D)J recombination signal recognition: distinct, overlapping DNA-protein contacts in complexes containing RAG1 with and without RAG2. Immunity 1998;9:115-125.
18. Swanson PC, Desiderio S. RAG-2 promotes heptamer occupancy by RAG-1 in the assembly of a V(D)J initiation complex. Mol Cell Biol 1999;19:3674-3683.
19. Agrawal A, Schatz DG. RAG1 and RAG2 form a stable postcleavage synaptic complex with DNA containing signal ends in V(D)J recombination. Cell 1997;89:43-53.
20. Hiom K, Gellert M. A stable RAG1-RAG2-DNA complex that is active in V(D) J cleavage. Cell 1997;88:65-72.
21. Hiom K, Gellert M. Assembly of a 12/23 paired signal complex: a critical control point in V(D)J recombination. Mol Cell 1998;1:1011-1019.
22. van Gent D, Ramsden DA, Gellert M. The RAG1 and RAG2 proteins establish the 12/23 rule in V(D)J recombination. Cell 1996;85:107-113.
23. Eastman QM, Leu TM, Schatz DG. Initiation of V(D)J recombination in vitro obeying the 12/23 rule. Nature 1996;380:85-88.
24. Steen SB, Gomelsky L, Roth DB. The 12/23 rule is enforced at the cleavage step of V(D)J recombination in vivo. Genes Cells 1996;1:543-553.
25. Hendrickson EA, Schatz DG, Weaver DT. The scid gene encodes a trans-acting factor that mediates the rejoining event of Ig gene rearrangement. Genes Dev 1988;2:817-829.
26. Hendrickson EA, Qin XQ, Bump EA, Schatz DG, Oettinger M, Weaver DT. A link between double-strand break-related repair and V(D)J recombination: the scid mutation. Proc Natl Acad Sci USA 1991;88:4061-4065.
27. Roth DB, Menetski JP, Nakajima PB, Bosma MJ, Gellert M. V(D)J recombination: broken DNA molecules with covalently sealed (hairpin) coding ends in scid mouse thymocytes. Cell 1992;70:983-991.
28. Kirchgessner CU, et al. DNA-dependent kinase (p350) as a candidate gene for the murine SCID defect. Science 1995;267:1178-1183.
29. Ma Y, Pannicke U, Schwarz K, Lieber MR. Hairpin opening and overhang processing by an Artemis/DNA-dependent protein kinase complex in nonhomologous end joining and V(D)J recombination. Cell 2002;108:781-794.
30. Burrows PD, Cooper MD. B cell development and differentiation. Curr Opin Immunol 1997;9:239-244.
31. Alt FW, et al. Ordered rearrangement of immunoglobulin heavy chain variable region segments. EMBO J 1984;3:1209-1219.
32. Kurosawa Y, von Boehmer H, Haas W, Sakano H, Trauneker A, Tonegawa S. Identification of D segments of immunoglobulin heavy-chain genes and their rearrangement in T lymphocytes. Nature 1981;290:565-570.
33. Conley ME, Cooper MD. Genetic basis of abnormal B cell development. Curr Opin Immunol 1998;10:399-406.
34. Karasuyama H, Rolink A, Melchers F. Surrogate light chain in B cell development. Adv Immunol 1996;63:1-41.
35. Burrows PD, Stephan RP, Wang YH, Lassoued K, Zhang Z, Cooper MD. The transient expression of pre-B cell receptors governs B cell development. Semin Immunol 2002;14:343-349.
36. Wang YH, et al. Differential surrogate light chain expression governs B-cell differentiation. Blood 2002;99:2459-2467.
37. Reya T, et al. Wnt signaling regulates B lymphocyte proliferation through a LEF-1 dependent mechanism. Immunity 2000;13:15-24.
38. Wardemann H, Yurasov S, Schaefer A, Young JW, Meffre E, Nussenzweig MC. Predominant autoantibody production by early human B cell precursors. Science 2003;301: 1374-1377.
39. Nemazee D, Hogquist KA. Antigen receptor selection by editing or downregulation of V(D)J recombination. Curr Opin Immunol 2003;15:182-189.
40. Nussenzweig MC. Immune receptor editing: revise and select. Cell 1998;95:875-878.
41. Radic M, Zouali M. Receptor editing, immune diversifiation and self-tolerance. Immunity 1996;5:505-511.
42. King LB, Monroe JG, Immunology. B cell receptor rehabilitation - pausing to reflect. Science 2001;291:1503-1505.
43. Casellas R, et al. Contribution of receptor editing to the antibody repertoire. Science 2001;291:1541-1544.
44. Tiegs SL, Russell DM, Nemazee D. Receptor editing in self-reactive bone marrow B cells. J Exp Med 1993;177:1009-1020.
45. Gay D, Saunders T, Camper S, Weigert M. Receptor editing: an approach by autoreactive B cells to escape tolerance. J Exp Med 1993;177:999-1008.
46. Radic MZ, Mackle J, Erikson J, Mol C, Anderson WF, Weigert M. Residues that mediate DNA binding of autoimmune antibodies. J Immunol 1993;150:4966-4977.
47. Chen C, Prak EL, Weigert M. Editing disease-associated autoantibodies. Immunity 1997;6:97-105.
48. Pelanda R, Schwers S, Sonoda E, Torres RM, Nemazee D, Rajewsky K. Receptor editing in a transgenic mouse model: site, efficiency, and role in B cell tolerance and antibody diversification. Immunity 1997;7:765-775.
49. Melamed D, Nemazee D. Self-antigen does not accelerate immature B cell apoptosis, but stimulates receptor editing as a consequence of developmental arrest. Proc Natl Acad Sci USA 1997;94:9267-9272.
50. Melamed D, Benschop RJ, Cambier JC, Nemazee D. Developmental regulation of B lymphocyte immune tolerance compartmentalizes clonal selection from receptor selection. Cell 1998;92:173-182.
51. - bone marrow B cells in vitro. Immunity 1997;6:429-436.
52. Sandel PC, Monroe JG. Negative selection of immature B cells by receptor editing or deletion is determined by site of antigen encounter. Immunity 1999;10:289-299.
53. Sandel PC, Gendelman M, Kelsoe G, Monroe JG. Definition of a novel cellular constituent of the bone marrow that regulates the response of immature B cells to B cell antigen receptor engagement. J Immunol 2001;166:5935-5944.
54. Seagal J, Melamed D. Role of receptor revision in forming a B cell repertoire. Clin Immunol 2002;105:1-8.
55. Kleinfield R, Hardy RR, Tarlinton D, Dangl J, Herzenberg LA, Weigert M. Recombination between an expressed immunoglobulin heavy-chain gene and a germline variable gene segment in a Ly 1+ B-cell lymphoma. Nature 1986;322:843-846.
56. Reth M, Gehrmann P, Petrac E, Wiese P. A novel VH to VHDJH joining mechanism in heavy-chain-negative (null) pre-B cells results in heavy-chain production. Nature 1986;322:840-842.
57. Covey LR, Ferrier P, Alt FW. VH to VHDJH rearrangement is mediated by the internal VH heptamer. Int Immunol 1990;2:579-583.
58. Usuda S, et al. Immunoglobulin V gene replacement is caused by the intramolecular DNA deletion mechanism. EMBO J 1992;11:611-618.
59. Chen C, Nagy Z, Prak EL, Weigert M. Immunoglobulin heavy chain gene replacement: a mechanism of receptor editing. Immunity 1995;3:747-755.
60. Cascalho M, Wong J, Wabl M. VH gene replacement in hyperselected B cells of the quasimonoclonal mouse. J Immunol 1997;159:5795-5801.
61. Lopez-Macias C, et al. Secondary rearrangements and hypermutation generate sufficient B cell diversity to mount protective antiviral immunoglobulin responses. J Exp Med 1999;189:1791-1798.
62. Madan MK, Golub R, Wabl M, Wu GE. Specific antibody production by V(H)-gene replacement. Eur J Immunol 2000;30:2404-2411.
63. Golub R, Martin D, Bertrand FE, Cascalho M, Wabl M, Wu GE. VH gene replacement in thymocytes. J Immunol 2001;166:855-860.
64. Wasserman R, et al. VH gene rearrangement events can modify the immunoglobulin heavy chain during progression of B-lineage acute lymphoblastic leukemia. Blood 1992;79:223-228.
65. Kitchingman GR. Immunoglobulin heavy chain gene VH-D junctional diversity at diagnosis in patients with acute lymphoblastic leukemia. Blood 1993;81:775-782.
66. Korganow AS, et al. Molecular analysis of rearranged VH genes during B cell chronic lymphocytic leukemia: intraclonal stability is frequent but not constant. Leuk Lymphoma 1994;14:55-69.
67. Zhou M, Yeager AM, Smith SD, Findley HW. Overexpression of the MDM2 gene by childhood acute lymphoblastic leukemia cells expressing the wild-type p53 gene. Blood 1995;85:1608-1614.
68. Wang YH, et al. V(D)J recombinatorial repertoire diversification during intraclonal pro-B to B-cell differentiation. Blood 2003;101:1030-1037.
69. Zhang Z, et al. Molecular mechanism of serial VH gene replacement. Ann NY Acad Sci 2003;987:270-273.
70. Zhang Z, et al. Contribution of VH gene replacement to the primary B cell repertoire. Immunity 2003;19:21-31.
71. Kim DR, Oettinger MA. Functional analysis of coordinated cleavage in V(D)J recombination. Mol Cell Biol 1998;18:4679-4688.
72. Raghavan SC, Kirsch IR, Lieber MR. Analysis of the V(D)J recombination efficiency at lymphoid chromosomal translocation breakpoints. J Biol Chem 2001;276:29126-29133.
73. Wilson PC, Wilson K, Liu YJ, Banchereau J, Pascual V, Capra JD. Receptor revision of immunoglobulin heavy chain variable region genes in normal human B lymphocytes. J Exp Med 2000;191:1881-1894.
74. Itoh K, et al. Immunoglobulin heavy chain variable region gene replacement as a mechanism for receptor revision in rheumatoid arthritis synovial tissue B lymphocytes. J Exp Med 2000;192:1151-1164.
75. Nemazee D, Weigert M. Revising B cell receptors. J Exp Med 2000;191:1813-1817.
76. Goossens T, Brauninger A, Klein U, Kuppers R, Rajewsky K. Receptor revision plays no major role in shaping the receptor repertoire of human memory B cells after the onset of somatic hypermutation. Eur J Immunol 2001;31:3638-3648.
77. Nunez C, et al. B cells are generated throughout life in humans. J Immunol 1996;156:866-872.
78. Desiderio SV, et al. Insertion of N regions into heavy-chain genes is correlated with expression of terminal deoxytransferase in B cells. Nature 1984;311:752-755.
79. Thai TH, Purugganan MM, Roth DB, Kearney JF. Distinct and opposite diversifying activities of terminal transferase splice variants. Nat Immunol 2002;3:457-462.
80. Sekiguchi DR, et al. Chronic graft-versus-host in Ig knockin transgenic mice abrogates B cell tolerance in anti-double-stranded DNA B cells. J Immunol 2002;168:4142-4153.
81. Sekiguchi DR, Eisenberg RA, Weigert M. Secondary heavy chain rearrangement: a mechanism for generating anti-double-stranded DNA B cells. J Exp Med 2003;197:27-39.
82. Meffre E, et al. Circulating human B cells that express surrogate light chains and edited receptors. Nat Immunol 2000;1:207-213.
83. Zhang Z, Wu X, Limbaugh BH, Bridges SL Jr. Expression of recombination-activating genes and terminal deoxynucleotidyl transferase and secondary rearrangement of immunoglobulin κ light chains in rheumatoid arthritis synovial tissue. Arthritis Rheum 2001;44:2275-2284.
84. Armengol MP, et al. Thyroid autoimmune disease: demonstration of thyroid antigen-specific B cells and recombination-activating gene expression in chemokine-containing active intrathyroidal germinal centers. Am J Pathol 2001;159:861-873.
85. Girschick HJ, Grammer AC, Nanki T, Vazquez E, Lipsky PE. Expression of recombination activating genes 1 and 2 in peripheral B cells of patients with systemic lupus erythematosus. Arthritis Rheum 2002;46:1255-1263.
86. Yachimovich-Cohen N, Fischel R, Bachar N, Yarkoni Y, Eilat D. Autoimmune NZB/NZW F1 mice utilize B cell receptor editing for generating high-affinity anti-dsDNA autoantibodies from low-affinity precursors. Eur J Immunol 2003;33:2469-2478.
87. Mehr R, Shahaf G, Sah A, Cancro M. Asynchronous differentiation models explain bone marrow labeling kinetics and predict reflux between the pre- and immature B cell pools. Int Immunol 2003;15:301-312.
88. Schlissel M. Allelic exclusion of immunoglobulin gene rearrangement and expression: why and how? Semin Immunol 2002;14:1-6.
89. Nussenzweig MC, Shaw AC, Sinn E, Campos-Torres J, Leder P. Allelic exclusion in transgenic mice carrying mutant human IgM genes. J Exp Med 1988;167:1969-1974.
90. Nussenzweig MC, et al. Allelic exclusion in transgenic mice that express the membrane form of immunoglobulin mu. Science 1987;236:816-819.