Evolution of somatic hypermutation and gene conversion in adaptive immunity

Immunological Reviews

Volumn 162, Issue , 1998, Pages 13-24

  Diaz, Marilyn ^a,b   Flajnik, Martin F ^a  

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

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

Author keywords

[No Author keywords available]

Indexed keywords

DNA POLYMERASE; LYMPHOCYTE ANTIGEN RECEPTOR; TRANSCRIPTION FACTOR;

ANIMAL CELL; BIODIVERSITY; DNA REPAIR; GENE CONVERSION; GENE REPLICATION; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; IMMUNITY; MOLECULAR EVOLUTION; NONHUMAN; PHYLOGENY; POINT MUTATION; PRIORITY JOURNAL; RECEPTOR GENE; REVERSE TRANSCRIPTION; REVIEW; SEQUENCE HOMOLOGY; SOMATIC MUTATION;

ANIMALS; EVOLUTION, MOLECULAR; GENE CONVERSION; GENES, IMMUNOGLOBULIN; HUMANS; IMMUNITY, ACTIVE; MUTATION; PHYLOGENY;

EID: 0031894290     PISSN: 01052896     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1600-065X.1998.tb01425.x     Document Type: Review

References (89)

1. Marchalonis JJ, Schluter SF. On the relevance of invertebrate recognition and defense mechanisms to the emergence of the immune response of vertebrates. Scand J Immunol 1990;32:13-20.
2. Hansen JD, Kaattari SL. The recombination activation gene 1 (RAG1) of rainbow trout (Oncorhynchus mykiss): cloning, expression, and phylogenetic analysis. Immunogenetics 1995;42:188-195.
3. Hansen JD, Kaattari SL. The recombination activating gene 2 (RAG2) of the rainbow trout Oncorhynchus mykiss. Immunogenetics 1996;44:203-211.
4. Greenhalgh P, Olesen CE, Steiner LA. Characterization and expression of recombination activation genes (RAG1 and RAG2) in Xenopus laevis. J Immunol 1993;151:3100-3110.
5. Greenhalgh P, Steiner LA. Recombination activating gene 1 (RAG1) in zebrafish and shark. Immunogenetics 1995;41:54-55.
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. Borst J, Jacobs H, Brouns G. Composition and function of T-cell receptor and B-cell receptor complexes on precursor lymphocytes. Curr Opin Immunol 1996;8:181-190.
8. Reynaud C-A, Dahan A, Anquez V, Weill J-C. Somatic hyperconversion diversifies the single VH gene of the chicken with a high incidence in the D region. Cell 1989;59:171-183.
9. Reynaud C-A, Anquez V, Grimal H, Weill J-C. A hyperconversion mechanism generates the chicken light chain pre-immune repertoire. Cell 1987;48:379-388.
10. Reynaud C-A, Garcia C, Hein WR, Weill J-C. Hypermutation generating the sheep immunoglobulin repertoire is an antigen-independent process. Cell 1995;80:115-125.
11. Butler JE, Sun J-S, Navarro P. The swine Ig heavy chain locus has a single JH and no identifiable IgD. Int Immunol 1996;8:1897-1904.
12. Parng C-L, Hansal S, Goldsby RA, Osborne BA. Gene conversion generates immunoglobulin gene diversity in cattle. Ann N Y Acad Sci 1995;764:155-161.
13. Knight K, Crane MA. Generating the antibody repertoire in rabbit. Adv Immunol 1994;56:179-218.
14. Weigert MG, Cesari IM, Yonkovich SJ, Cohn M. Variability in the λ light chain sequences of mouse antibody. Nature 1970;228:1045-1047.
15. Meyer J, Jack H-M, Ellis N, Wabl M. High rate of somatic point mutation in vitro in and near the variable-region segment of an immunoglobulin heavy chain gene. Proc Natl Acad Sci USA 1986;83:6950-6953.
16. Parvari R, Ziv E, Lantner F, Heller D, Schechter I. Somatic diversification of chicken immunoglobulin light chains by point mutations. Proc Natl Acad Sci USA 1990;87:3072-3076.
17. Tsiagbe VK, Inghirami G, Thorbecke GJ. The physiology of germinal centers. Crit Rev Immunol 1996;16:381-421.
18. Hinds-Frey KR, Nishikata H, Litman RT, Litman GW. Somatic variation precedes extensive diversification of germline sequences and combinatorial joining in the evolution of immunoglobulin heavy chain diversity. J Exp Med 1993;178:815-824.
19. Wilson M, Hsu E, Marcuz A, Courtet M, Du Pasquier L, Steinberg C. What limits affinity maturation of antibodies in Xenopus - the rate of somatic mutation or the ability to select mutants? EMBO J 1992;11:4337-4347.
20. Greenberg AS, Avila D, Hughes M, Hughes A, McKinney EC, Flajnik MF. A new antigen receptor gene family that undergoes rearrangement and extensive somatic diversification in sharks. Nature 1995;374:168-173.
21. Liu YJ, Arpin C. Germinal center development. Immunol Rev 1997;156:111-126.
22. Betz A, Milstein C, Gonzalez-Fernandez R, Pannell R, Larson T, Neuberger M. Elements regulating somatic hypermutation of an immunoglobulin κ gene: critical role for the intron enhancer/matrix attachment region. Cell 1994;77:239-248.
23. Azuma T, Motoyama N, Fields LE, Loh DY. Mutations of the chloramphenicol acetyl transferase transgene driven by the immunoglobulin promoter and intron enhancer. Int Immunol 1993;5:121-130.
24. Bachl J, Wabl M. Enhancers of hypermutation. Immunogenetics 1996;45:59-64.
25. Giusti AM, Manser T. Hypermutation is observed only in antibody H chain V region transgenes that have recombined with endogenous immunoglobulin H DNA: implications for the location of cis-acting elements required for somatic mutation. J Exp Med 1994;179:235-248.
26. Sharpe M, Milstein C, Jarvis JM, Neuberger MS. Somatic hypermutation of immunoglobulin κ may depend on sequences 3′ of Cκ and occurs on passenger transgenes. EMBO J 1991;10:2139-2145.
27. Lebecque SG, Gearhart PJ. Boundaries of somatic mutation in rearranged immunoglobulin genes: 5′ boundary is near the promoter and 3′ boundary is ∼ 1 Kb from V(D)J gene. J Exp Med 1990;172:1717-1727.
28. Rogerson BJ. Mapping the upstream boundary of somatic mutations in rearranged immunoglobulin transgenes and endogenous genes. Mol Immunol 1994;31:83-98.
29. Yelamos J, et al. Targeting of non-Ig sequences in place of the V segment by somatic hypermutation. Nature 1995;376:22S-229.
30. Winter DB, Sattar N, Gearhart PJ. The role of promoter-intron interactions in directing hypermutation. In: Kelsoe G, Flajnik MF, eds. Current topics in microbiology and immunology. Berlin, Heidelberg: Springer; 1998. p. 1-10.
31. Peters A, Storb U. Somatic hypermutation of immunoglobulin genes is linked to transcription initiation. Immunity 1996;4:57-65.
32. Betz AG, Neuberger MS, Milstein C. Discriminating intrinsic and antigen-selected mutational hotspots in immunoglobulin V genes. Immunol Today 1993;14:405-411.
33. Betz AG, Rada C, Pannell R, Milstein C, Neuberger MS. Passenger transgenes reveal intrinsic specificity of the antibody hypermutation mechanism: clustering, polarity, and specific hot spots. Proc Natl Acad Sci USA 1993;90:2385-2388.
34. Golding GB, Gearhart PJ, Glickman BW. Patterns of somatic mutations in immunoglobulin variable genes. Genetics 1987;115:169-176.
35. Dorner T, Brezinschek H-P, Brezinschek RI, Foster SJ, Domiati-Saad R, Lipsky PE. Analysis of the frequency and pattern of somatic mutations within nonproductively rearranged human variable heavy chain genes. J Immunol 1997;158:2779-2789.
36. Lin MM-Q, Zhu M, Scharff MD. Sequence dependent hypermutation of the immunoglobulin heavy chain in cultured B cells. Proc Natl Acad Sci USA 1997;94:5284-5289.
37. Insel RA, Varade WS. Bias in somatic hypermutation of human VH genes. Int Immunol 1994;6:1437-1443.
38. Jacob J, Kelsoe G, Rajewsky K, Weiss U. Intraclonal generation of antibody mutants in germinal centers. Nature 1991;354:389-392.
39. Sablitzky F, Wildner G, Rajewsky K. Somatic mutation and clonal expansion of B cells in an antigen-driven immune response. EMBO J 1985;4:345-350.
40. Du Pasquier L, Wilson M, Greenberg AS, Flajnik MF. Somatic mutation in ectothermic vertebrates: musings on selection and origins. In: Kelsoe G, Flajnik MF, eds. Current topics in microbiology and immunology. Berlin, Heidelberg: Springer; 1998. p. 199-216.
41. Du Pasquier L. Antibody diversity in lower vertebrates. Why is it so restricted? Nature 1982;296:311-313.
42. Torroba M, et al. Macrophage-lymphocyte cell clusters in the hypothalamic ventricle of some elasmobranch fish: ultrastructure analysis and possible functional significance. Anat Rec 1995;242:400-410.
43. Hsu E. Canonical VH CDR1 nucleotide sequences are conserved in all jawed vertebrates. Int Immunol 1996;8:847-854.
44. Reynaud C-A, Anquez V, Dahan A, Weill J-C. A single rearrangement event generates most of the chicken immunoglobulin light chain diversity. Cell. 1985;40:283-291.
45. Carlson LC, McCormack WT, Postema CE, Barth CF, Humphries EH, Thompson CB. Templated insertions in the rearranged chicken Ig L V gene segment arise by intrachromosomal gene conversion. Genes Dev 1990;4:536-547.
46. Arakawa H, Furusawa SE, Yamagishi H. Immunoglobulin gene hyperconversion ongoing in chicken splenic germinal centers. EMBO J 1996;15:2540-2546.
47. Rogozin IB, Sredneva NE, Kolchanov NA. Somatic hypermutagenesis in immunoglobulin genes. III. Somatic mutation in the chicken light chain locus. Biochim Biophys Acta 1996;1306:171-178.
48. Thompson CB. Creation of immunoglobulin diversity by intrachromosomal gene conversion. Trends Genet 1992;8:416-422.
49. Thompson CB, Neiman P. Somatic diversification of the chicken immunoglobulin gene is limited to the rearranged variable gene segment. Cell 1987;48:369-378.
50. Raman C, Spieker-Polet H, Yam P-C, Knight K. Preferential VH gene usage in rabbit Ig-secreting heterohybridomas. J Immunol 1994;152:3935-3945.
51. Weinstein PD, Anderson AO, Mage RG. Rabbit IgH sequences in appendix germinal centers: VH diversification by gene conversion-like and hypermutation mechanisms. Immunity 1994;1:647-659.
52. Jackson SM, Osborne BA, Goldsby RA. Diversification of immunoglobulin VH genes in individual follicles of bovine IPP. FASEB J 1996;10: A1031.
53. Matsumoto M, et al. Affinity maturation without germinal centres in lymphotoxin-α-deficient mice. Nature 1996;382:462-466.
54. Wysocki LJ, Liu AH, Jena PK. Somatic mutagenesis and evolution of memory B cells. In: Kelsoe G, Flajnik MF, eds. Current topics in microbiology and immunology. Berlin, Heidelberg: Springer; 1998. p. 105-131.
55. Pierre DM, Goldman D, Bar-Yam Y, Perelson AS. Somatic evolution in the immune system: the need for germinal centers for efficient affinity maturation. J Theor Biol 1997;186:159-171.
56. Kepler TB, Perelson AS. Cyclic re-entry of germinal center B cells and the efficiency of affinity maturation. Immunol Today 1993;14:412-415.
57. Pulendran B, van Driel R, Nossal GJV. Immunological tolerance in germinal centres. Immunol Today 1997;18:27-32.
58. Jerne NK. The somatic generation of immune recognition. Eur J Immunol 1971;1:1-9.
59. Han S, Zheng B, Takahashi Y, Kelsoe G. Distinctive characteristics of germinal center B cells. Semin Immunol 1997;9:255-260.
60. Hikida M, Mori M, Takai T, Tomochika K-I, Hamatani K, Ohmori H. Reexpression of Rag-1 and Rag-2 genes in activated mature mouse B-cells. Science 1996;274:2092-2094.
61. Han S, Zheng B, Schatz DG, Spanopoulou E, Kelsoe G. Neoteny in lymphocytes: Rag 1 and Rag 2 expressign in germinal center B cells. Science 1996;274:2094-2097.
62. Wedemaya GJ, Patten PA, Wang LH, Schultz PG, Stevens RC. Structural insights into the evolution of an antibody combining site. Science 1997;276:1665-1669.
63. Memisoglu A, Samson L. DNA repair functions in heterologous cells. Crit Rev Biochem Mol Biol 1996;31:405-447.
64. Wright S. Evolution and genetics of populations. 3rd vol. Chicago: University of Chicago Press; 1977.
65. Storb U. The molecular basis of somatic hypermutation of immunoglobulin genes. Curr Opin Immunol 1996;8:206-214.
66. Strubin M, Newell JW, Mathias P. OBF-1, a novel B-cell-specific coactivator that stimulates immunoglobulin promoter activity through association with octamer-binding proteins. Cell 1995;80:497-506.
67. Gstaiger M, Georgier O, Leeuwen HV, Vliet PVD, Schaffner W. The B cell coactivator Bob 1 shows DNA sequence-dependent complex formation with Oct-1/Oct-2 factors, leading to differential promoter activation. EMBO J 1996;15:2781-2790.
68. Nielsen PJ, Georgier O, Lorenz B, Shaffner W. B lymphocytes are impaired in mice lacking the transcriptional co-activator Bob1/OCA-B/OBF-1. Eur J Immunol 1996;26:3214-3218.
69. Steele EJ, Rothenfluh HS, Blanden RV. Mechanism of antigen-driven somatic hypermutation of rearranged immunoglobulin V(D)J genes in the mouse. Immunol Cell Biol 1997;75:82-95.
70. Levin H. An unusual mechanism of self-primed reverse transcription requires the RNAse H domain of reverse transcriptase to cleave an RNA duplex. Mol Cell Biol 1996;16:5645-5654.
71. Davie JR. Nuclear matrix, dynamic histone acetylation and transcriptionally active chromatin. Mol Biol Rep 1997;24:197-207.
72. Brun C, Dang Q, Miassod R. Studies of an 800-kilobase DNA stretch of the Drosophila X chromosome-comapping of a subclass of scaffold attached regions with sequences able to replicate autonomously in Saccharomyces cerevisiae. Mol Cell Biol 1990;10:5455-5463.
73. Ford JE, McHeyzer-Williams MG, Lieber MR. Analysis of individual immunoglobulin λ light chain genes amplified from single cells is inconsistent with variable region gene conversion in germinal center B cell somatic mutation. Eur J Immunol 1994;24:1816-1822.
74. Boulikas T. Common structural features of replication origins in all life forms. J Cell Biochem 1996;60:297-316.
75. Yoo HY, Jung SY, Kim YH, Kim J, Jung G, Rho HM. Transcriptional control of the Saccharomyce cermsiae ADH1 gene by autonomously replicating sequence binding factor 1. Curr Microbiol 1995;31:163-168.
76. Ghivizzani SC, Madsen CS, Nelen MR, Ammini CV, Hauswirth WW. In organello footprint analysis of human mitochondrial DNA: human mitochondrial transcription factor A interactions at the origin of replication. Mol Cell Biol 1994;14:7717-7730.
77. Tasheva ES, Roufa DJ. A mammalian origin of bidirectional DNA replication within the Chinese hamster RPS14 locus. Mol Cell Biol 1994;14:5628-5635.
78. Elias-Arnanz M, Salas M. Bacteriophage φ 29 DNA replication arrest caused by codirectional collisions with the transcription machinery. EMBO J 1997;16:5775-5783.
79. Liu B, Alberts BM. Head on collision between a DNA replication apparatus and RNA polymerase transcription complex. Science 1995;267:1131-1137.
80. French S. Consequences of replication fork movement through transcription units in vivo. Science 1992;258:1362-1365.
81. Pato ML. Alteration of the rate of movement of deoxyribonucleic acid replication forks. J Bacteriol 1975;123:272-277.
82. Nelson JR, Lawrence CW, Hinckle DC. Thymine-thymine dimer bypass by yeast DNA polymerase ζ. Science 1996;272:1646-1649.
83. Napolitano RL, Lambert IB, Fuchs RPP. SOS factors involved in translesion synthesis. Proc Natl Acad Sci USA 1997;94:5733-5738.
84. Vyas RR, Basu AK. DNA polymerase action on an oligonucleotide containing a site-specifically located N-(deoxyguanosin-8-yl)-1-aminopyrene. Carcinogenesis 1995;16:811-816.
85. Chary P, Lloyd RS. In vitro replication by prokaryotic and eukaryotic polymerases on DNA templates containing site-specific and stereospecific benzo[a]pyrene-7,8-dihydrodiol-9,10-epoxide adducts. Nucleic Acids Res 1995;23:1398-1405.
86. Holbeck SL, Strathern JN. A role for REV3 in mutagenesis during double-strand break repair in Saccharomyces cerevisiae. Genetics 1997;147:1017-1024.
87. Fukuda K, Morioka H, Imajou S, Ikeda S, Ohtsuka E, Tsurimoto T. Structure-function relationship of the eukaryotic DNA replication factor, Proliferating Cell Nuclear Antigen. J Biol Chem 1995;270:22527-22534.
88. -/- mutant of the chicken DT40 cell line. Cell 1997;89:185-193.
89. Roche H, Gietz RD, Kunz BA. Specificities of the Saccharomycescerevisiae rad6, rad18, and rad52 mutators exhibit different degrees of dependence on the REV3 gene product, a putative nonessential DNA polymerase. Genetics 1995;140:443-456.