Somatic Hypermutation of Immunoglobulin Genes

Arakawa, 2002, Immunoglobulin gene conversion requires the activation induced deaminase (AID) gene, Science, 295, 1301, 10.1126/science.1067308 Bachl, 1998, The Ig mutator is dependent on the presence, position, and orientation of the large intron enhancer, Proc. Natl. Acad. Sci. USA, 95, 2396, 10.1073/pnas.95.5.2396 Bachl, 2001, Increased transcription levels induce higher mutation rates in a hypermutating cell line, J. Immunol., 166, 5051, 10.4049/jimmunol.166.8.5051 Bemark, 2000, The c-MYC allele that is translocated into the IgH locus undergoes constitutive hypermutation in a Burkitt's lymphoma line, Oncogene, 19, 3404, 10.1038/sj.onc.1203686 Bemark, 2000, Somatic hypermutation in the absence of DNA-dependent protein kinase catalytic subunit (DNA-PK(cs)) or recombination-activating gene (RAG)1 activity, J. Exp. Med., 192, 1509, 10.1084/jem.192.10.1509 Bernard, 1978, Sequences of mouse immunoglobulin light chain genes before and after somatic changes, Cell, 15, 1133, 10.1016/0092-8674(78)90041-7 Betz, 1994, Elements regulating somatic hypermutation of an immunoglobulin kappa gene, Cell, 77, 239, 10.1016/0092-8674(94)90316-6 Brenner, 1966, Origin of antibody variation, Nature, 211, 242, 10.1038/211242a0 Bross, 2000, DNA double-strand breaks in immunoglobulin genes undergoing somatic hypermutation, Immunity, 13, 589, 10.1016/S1074-7613(00)00059-5 Burnet, 1957, A modification of Jerne's theory of antibody production using the concept of clonal selection, Australian J. Sci., 20, 67 Casellas, 1998, Ku80 is required for immunoglobulin isotype switching, EMBO J., 17, 2404, 10.1093/emboj/17.8.2404 Diaz, 1998, Evolution of somatic hypermutation and gene conversion in adaptive immunity, Immunol. Rev., 162, 13, 10.1111/j.1600-065X.1998.tb01425.x Dunnick, 1989, Mutations, duplication, and deletion of recombined switch regions suggest a role for DNA replication in the immunoglobulin heavy-chain switch, Mol. Cell. Biol., 9, 1850, 10.1128/MCB.9.5.1850 Dunnick, 1993, DNA sequences at immunoglobulin switch region recombination sites, Nucleic Acids Res., 21, 365, 10.1093/nar/21.3.365 Ehrenstein, 1999, Deficiency in Msh2 affects the efficiency and local sequence specificity of immunoglobulin class-switch recombination, EMBO J., 18, 3484, 10.1093/emboj/18.12.3484 Ehrenstein, 2001, Switch junction sequences in PMS2-deficient mice reveal a microhomology-mediated mechanism of Ig class switch recombination, Proc. Natl. Acad. Sci. USA, 98, 14553, 10.1073/pnas.241525998 Frey, 1998, Mismatch repair deficiency interferes with the accumulation of mutations in chronically stimulated B cells and not with the hypermutation process, Immunity, 9, 127, 10.1016/S1074-7613(00)80594-4 Fukita, 1998, Somatic hypermutation in the heavy chain locus correlates with transcription, Immunity, 9, 105, 10.1016/S1074-7613(00)80592-0 Gearhart, 2001, Emerging links between hypermutation of antibody genes and DNA polymerases, Nat. Rev. Immunol., 1, 187, 10.1038/35105009 Golding, 1987, Patterns of somatic mutations in immunoglobulin variable genes, Genetics, 115, 169, 10.1093/genetics/115.1.169 Goossens, 1998, Frequent occurrence of deletions and duplications during somatic hypermutation, Proc. Natl. Acad. Sci. USA, 95, 2463, 10.1073/pnas.95.5.2463 Goyenechea, 1997, Cells strongly expressing Igκ transgenes show clonal recruitment of hypermutation, EMBO J., 16, 3987, 10.1093/emboj/16.13.3987 Griffiths, 1984, Somatic mutation and the maturation of immune response to 2-phenyl oxazolone, Nature, 312, 271, 10.1038/312271a0 Haber, 2001, Hypermutation, Nat. Immunol., 2, 902, 10.1038/ni1001-902 Harris, 2002, Immunoglobulin V gene conversion in a cultured B cell line is dependent upon AID, Curr. Biol., 12, 435, 10.1016/S0960-9822(02)00717-0 Hendrickson, 1997, Insights from model systems, Am. J. Hum. Genet., 61, 795, 10.1086/514895 Honjo, 2002, Molecular mechanism of class switch recombination, Annu. Rev. Immunol., 20, 165, 10.1146/annurev.immunol.20.090501.112049 Huang, 2002, Reconstitution of the mammalian DNA double-strand break end-joining reaction reveals a requirement for an Mre11/Rad50/NBS1-containing fraction, Nucleic Acids Res., 30, 667, 10.1093/nar/30.3.667 Jacobs, 2001, Towards an understanding of somatic hypermutation, Curr. Opin. Immunol., 13, 208, 10.1016/S0952-7915(00)00206-5 Karran, 2000, DNA double strand break repair in mammalian cells, Curr. Opin. Genet. Dev., 10, 144, 10.1016/S0959-437X(00)00069-1 Klix, 1998, Multiple sequences from downstream of the J kappa cluster can combine to recruit somatic hypermutation to a heterologous, upstream mutation domain, Eur. J. Immunol., 28, 317, 10.1002/(SICI)1521-4141(199801)28:01<317::AID-IMMU317>3.0.CO;2-S Klotz, 1998, Somatic hypermutation of an artificial test substrate within an Ig-kappa transgene, J. Immunol., 161, 782, 10.4049/jimmunol.161.2.782 Kolodner, 1996, Biochemistry and genetics of eukaryotic mismatch repair, Genes Dev., 10, 1433, 10.1101/gad.10.12.1433 Kong, 2001, DNA breaks in hypermutating immunoglobulin genes, Genetics, 158, 369, 10.1093/genetics/158.1.369 Kong, 1998, A lambda 3′ enhancer drives active and untemplated somatic hypermutation of a lambda 1 transgene, J. Immunol., 161, 294, 10.4049/jimmunol.161.1.294 Kuppers, 1999, Cellular origin of human B-cell lymphomas, N. Engl. J. Med., 341, 1520, 10.1056/NEJM199911113412007 Landsteiner, 1936 Lebecque, 1990, Boundaries of somatic mutation in rearranged immunoglobulin genes, J. Exp. Med., 172, 1717, 10.1084/jem.172.6.1717 Lederberg, 1959, Genes and antibodies, Science, 129, 1649, 10.1126/science.129.3364.1649 Lin, 1995, V(D)J recombination and the cell cycle, Immunol. Today, 16, 279, 10.1016/0167-5699(95)80182-0 Maizels, 1995, Somatic hypermutation—how many mechanisms diversify V region sequences, Cell, 83, 9, 10.1016/0092-8674(95)90227-9 Manis, 1998, Ku70 is required for late B cell development and immunoglobulin heavy chain class switching, J. Exp. Med., 187, 2081, 10.1084/jem.187.12.2081 Manis, 2002, IgH class switch recombination to IgG1 in DNA-PKcs-deficient B cells, Immunity, 16, 10.1016/S1074-7613(02)00306-0 Manis, 2002, Mechanism and control of class-switch recombination, Trends Immunol., 23, 31, 10.1016/S1471-4906(01)02111-1 Martin, 2002, Activation-induced cytidine deaminase turns on somatic hypermutation in hybridomas, Nature, 415, 802, 10.1038/nature714 Michael, 2002, Effects of sequence and structure on the hypermutability of immunoglobulin genes, Immunity, 16, 123, 10.1016/S1074-7613(02)00261-3 Muramatsu, 1999, 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, 10.1074/jbc.274.26.18470 Muramatsu, 2000, Class switch recombination and hypermutation require activation-induced cytidine deaminase (AID), a potential RNA editing enzyme, Cell, 102, 553, 10.1016/S0092-8674(00)00078-7 O'Brien, 1987, Somatic hypermutation of an immunoglobulin transgene in kappa transgenic mice, Nature, 326, 405, 10.1038/326405a0 Okazaki, 2002, The AID enzyme induces class switch recombination in fibroblasts, Nature, 416, 340, 10.1038/nature727 Oprea, 2001, The targeting of somatic hypermutation closely resembles that of meiotic mutation, J. Immunol., 166, 892, 10.4049/jimmunol.166.2.892 Papavasiliou, 2000, Cell-cycle-regulated DNA double-stranded breaks in somatic hypermutation of immunoglobulin genes, Nature, 408, 216, 10.1038/35041599 Papavasiliou, 2002, The activation induced deaminase (AID) functions in a post-cleavage step of the somatic hypermutation process, J. Exp. Med., in press Paques, 1997, Two pathways for removal of nonhomologous DNA ends during double-strand break repair in Saccharomyces cerevisiae, Mol. Cell. Biol., 17, 6765, 10.1128/MCB.17.11.6765 Pasqualucci, 2001, Hypermutation of multiple proto-oncogenes in B-cell diffuse large-cell lymphomas, Nature, 412, 341, 10.1038/35085588 Peters, 1996, Somatic hypermutation of immunoglobulin genes is linked to transcription initiation, Immunity, 4, 57, 10.1016/S1074-7613(00)80298-8 Petersen, 2001, AID is required to initiate Nbs1/gamma-H2AX focus formation and mutations at sites of class switching, Nature, 414, 660, 10.1038/414660a Pinaud, 2001, Localization of the 3′ IgH locus elements that effect long-distance regulation of class switch recombination, Immunity, 15, 187, 10.1016/S1074-7613(01)00181-9 Rada, 2001, The intrinsic hypermutability of antibody heavy and light chain genes decays exponentially, EMBO J., 20, 4570, 10.1093/emboj/20.16.4570 Rada, 1998, Hot spot focusing of somatic hypermutation in MSH2-deficient mice suggests two stages of mutational targeting, Immunity, 9, 135, 10.1016/S1074-7613(00)80595-6 Revy, 2000, Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2), Cell, 102, 565, 10.1016/S0092-8674(00)00079-9 Reynaud, 1999, Mismatch repair and immunoglobulin gene hypermutation, Immunol. Today, 20, 522, 10.1016/S0167-5699(99)01540-6 Rogozin, 1992, Somatic hypermutagenesis in immunoglobulin genes. II. Influence of neighbouring base sequences on mutagenesis, Biochim. Biophys. Acta, 1171, 11, 10.1016/0167-4781(92)90134-L Rolink, 1996, The scid but not the RAG-2 gene product is required for S-mu-S-epsilon heavy chain class switching, Immunity, 5, 319, 10.1016/S1074-7613(00)80258-7 Sale, 1998, TdT-accessible breaks are scattered over the immunoglobulin V domain in a constitutively hypermutating B cell line, Immunity, 9, 859, 10.1016/S1074-7613(00)80651-2 Sale, 2001, Ablation of XRCC2/3 transforms immunoglobulin V gene conversion into somatic hypermutation, Nature, 412, 921, 10.1038/35091100 Schrader, 2002, Role for mismatch repair proteins Msh2, Mlh1 and Pms2 in immunoglobulin class switching shown by sequence analysis of recombination junctions, J. Exp. Med., 195, 367, 10.1084/jem.20011877 Selsing, 1996, Gene conversion and homologous recombination in murine B cells, Semin. Immunol., 8, 151, 10.1006/smim.1996.0019 Shapiro, 1999, Predicting regional mutability in antibody V genes based solely on di- and trinucleotide sequence composition, J. Immunol., 163, 259, 10.4049/jimmunol.163.1.259 Shen, 1998, Mutation of BCL-6 gene in normal B cells by the process of somatic hypermutation of Ig genes, Science, 280, 1750, 10.1126/science.280.5370.1750 Shen, 2001, The 3′ Igkappa enhancer contains RNA polymerase II promoters, Int. Immunol., 13, 665, 10.1093/intimm/13.5.665 Siskind, 1965, Effect of variation in antibody-hapten association constant upon the biologic activity of the antibody, J. Immunol., 95, 436, 10.4049/jimmunol.95.3.436 Siskind, 1969, Cell selection by antigen in the immune response, Adv. Immunol., 10, 1, 10.1016/S0065-2776(08)60414-9 Stavnezer, 1996, Antibody class switching, Adv. Immunol., 61, 79, 10.1016/S0065-2776(08)60866-4 Storb, 1998, A hypermutable insert in an immunoglobulin transgene contains hotspots of somatic mutation and sequences predicting highly stable structures in the RNA transcript, J. Exp. Med., 188, 689, 10.1084/jem.188.4.689 Storb, 1998, Cis-acting sequences that affect somatic hypermutation of Ig genes, Immunol. Rev., 162, 153, 10.1111/j.1600-065X.1998.tb01438.x Sugawara, 1997, Role of Saccharomyces cerevisiae Msh2 and Msh3 repair proteins in double-strand break-induced recombination, Proc. Natl. Acad. Sci. USA, 94, 9214, 10.1073/pnas.94.17.9214 Talmage, 1957, Allergy and immunology, Annu. Rev. Med., 8, 239, 10.1146/annurev.me.08.020157.001323 Tian, 2000, Transcription-induced cleavage of immunoglobulin switch regions by nucleotide excision repair nucleases in vitro, J. Biol. Chem., 275, 24163, 10.1074/jbc.M003343200 Tonegawa, 1983, Somatic generation of antibody diversity, Nature, 302, 575, 10.1038/302575a0 Tumas-Brundage, 1997, The transcriptional promoter regulates hypermutation of the antibody heavy chain locus, J. Exp. Med., 185, 239, 10.1084/jem.185.2.239 Weigert, 1970, Variability in the lambda light chain sequences of mouse antibody, Nature, 228, 1045, 10.1038/2281045a0 Wiesendanger, 2000, Somatic hypermutation in MutS homologue (MSH)3-, MSH6-, and MSH3/MSH6-deficient mice reveals a role for the MSH2-MSH6 heterodimer in modulating the base substitution pattern, J. Exp. Med., 191, 579, 10.1084/jem.191.3.579 Wilson, 1998, Somatic hypermutation introduces insertions and deletions into immunoglobulin V genes, J. Exp. Med., 187, 59, 10.1084/jem.187.1.59 Winter, 1998, Dual enigma of somatic hypermutation of immunoglobulin variable genes, Immunol. Rev., 162, 89, 10.1111/j.1600-065X.1998.tb01432.x Winter, 1998, The role of promoter-intron interactions in directing hypermutation, Curr. Top. Microbiol. Immunol., 229, 1 Wood, 1998, DNA repair, Curr. Biol., 8, R757, 10.1016/S0960-9822(07)00479-4 Wu, 1995, The somatic hypermutation activity of a follicular lymphoma links to large insertions and deletions of immunoglobulin genes, Scand. J. Immunol., 42, 52, 10.1111/j.1365-3083.1995.tb03625.x Yelamos, 1995, Targeting of non-Ig sequences in place of the V segment by somatic hypermutation, Nature, 376, 225, 10.1038/376225a0