Analysis of somatic hypermutations in the IgM switch region in human B cells

Journal of Allergy and Clinical Immunology

Volumn 134, Issue 2, 2014, Pages

  Horiuchi, Katsuyuki ^a   Imai, Kohsuke ^a,b   Mitsui Sekinaka, Kanako ^a   Yeh, Tzu Wen ^b   Ochs, Hans D ^c   Durandy, Anne ^d,e,f   Nonoyama, Shigeaki ^a  

^a NATIONAL DEFENSE MEDICAL COLLEGE   (Japan)

^b TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^c UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^d INSERM   (France)

^e HÔPITAL NECKER ENFANTS MALADES   (France)

^f UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

Activation induced cytidine deaminase; antibody maturation; class switch recombination; immunoglobulin switch region; somatic hypermutation; uracil DNA glycosylase

Indexed keywords

ACTIVATION INDUCED CYTIDINE DEAMINASE; CD19 ANTIGEN; CD27 ANTIGEN; CD40 LIGAND; IMMUNOGLOBULIN D; IMMUNOGLOBULIN M; INTERLEUKIN 4; URACIL DNA GLYCOSIDASE; AICDA (ACTIVATION-INDUCED CYTIDINE DEAMINASE); CYTIDINE DEAMINASE;

ADULT; ARTICLE; B LYMPHOCYTE; CHILD; CLASS SWITCH RECOMBINATION; CONTROLLED STUDY; GENETIC RECOMBINATION; HUMAN; HUMAN TISSUE; IN VITRO STUDY; IN VIVO STUDY; MEMORY CELL; MISMATCH REPAIR; MISSENSE MUTATION; NORMAL HUMAN; NUCLEOTIDE SEQUENCE; PERIPHERAL BLOOD MONONUCLEAR CELL; POINT MUTATION; PRIORITY JOURNAL; PROTEIN MOTIF; SOMATIC HYPERMUTATION; DEFICIENCY; DNA FLANKING REGION; GENE EXPRESSION REGULATION; GENE REARRANGEMENT; GENETICS; IMMUNOLOGICAL MEMORY; IMMUNOLOGY; INFANT; MALE; MOLECULAR GENETICS;

5' FLANKING REGION; ADULT; AMINO ACID MOTIFS; B-LYMPHOCYTES; CD40 LIGAND; CHILD; CYTIDINE DEAMINASE; GENE EXPRESSION REGULATION; HUMANS; IMMUNOGLOBULIN CLASS SWITCHING; IMMUNOGLOBULIN M; IMMUNOLOGIC MEMORY; INFANT; MALE; MOLECULAR SEQUENCE DATA; SOMATIC HYPERMUTATION, IMMUNOGLOBULIN; URACIL-DNA GLYCOSIDASE;

EID: 84905584621     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2014.02.043     Document Type: Article

References (29)

1. P. Revy, T. Muto, Y. Levy, F. Geissmann, A. Plebani, and O. Sanal et al. Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the hyper-IgM syndrome (HIGM2) Cell 102 2000 565 575
2. K. Imai, G. Slupphaug, W.-I. Lee, P. Revy, S. Nonoyama, and N. Catalan et al. Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination Nat Immunol 4 2003 1023 1028
3. A. Durandy, P. Revy, K. Imai, and A. Fischer Hyper-immunoglobulin M syndromes caused by intrinsic B-lymphocyte defects Immunol Rev 203 2005 67 79
4. C.T. Yan, C. Boboila, E.K. Souza, S. Franco, T.R. Hickernell, and M. Murphy et al. IgH class switching and translocations use a robust non-classical end-joining pathway Nature 449 2007 478 482
5. J. Chaudhuri, and F.W. Alt Class-switch recombination: interplay of transcription, DNA deamination and DNA repair Nat Rev Immunol 4 2004 541 552
6. H. Nagaoka, M. Muramatsu, N. Yamamura, K. Kinoshita, and T. Honjo Activation-induced deaminase (AID)-directed hypermutation in the immunoglobulin Smu region: implication of AID involvement in a common step of class switch recombination and somatic hypermutation J Exp Med 195 2002 529 534
7. C.E. Schrader, J. Vardo, and J. Stavnezer Mlh1 can function in antibody class switch recombination independently of Msh2 J Exp Med 197 2003 1377 1383
8. J.U. Peled, F.L. Kuang, M.D. Iglesias-Ussel, S. Roa, S.L. Kalis, and M.F. Goodman et al. The biochemistry of somatic hypermutation Annu Rev Immunol 26 2008 481 511
9. M. Muramatsu, K. Kinoshita, S. Fagarasan, S. Yamada, Y. Shinkai, and T. Honjo Class switch recombination and hypermutation require activation-induced cytidine deaminase (AID), a potential RNA editing enzyme Cell 102 2000 553 563
10. S. Kracker, K. Imai, P. Gardës, H.D. Ochs, A. Fischer, and A.H. Durandy Impaired induction of DNA lesions during immunoglobulin class-switch recombination in humans influences end-joining repair Proc Natl Acad Sci U S A 107 2010 22225 22230
11. K. Xue, C. Rada, and M.S. Neuberger The in vivo pattern of AID targeting to immunoglobulin switch regions deduced from mutation spectra in msh2-/- ung-/- mice J Exp Med 203 2006 2085 2094
12. Y. Zhu, S. Nonoyama, T. Morio, M. Muramatsu, T. Honjo, and S. Mizutani Type two hyper-IgM syndrome caused by mutation in activation-induced cytidine deaminase J Med Dent Sci 50 2003 41 46
13. J.F. Fecteau, and S. Néron CD40 stimulation of human peripheral B lymphocytes: distinct response from naive and memory cells J Immunol 171 2003 4621 4629
14. S. Nonoyama, D. Hollenbaugh, A. Aruffo, J.A. Ledbetter, and H.D. Ochs B cell activation via CD40 is required for specific antibody production by antigen-stimulated human B cells J Exp Med 178 1993 1097 1102
15. K. Warnatz, A. Denz, R. Dräger, M. Braun, C. Groth, and G. Wolff-Vorbeck et al. Severe deficiency of switched memory B cells (CD27(+)IgM(-)IgD(-)) in subgroups of patients with common variable immunodeficiency: a new approach to classify a heterogeneous disease Blood 99 2002 1544 1551
16. F.-T. Huang, K. Yu, B.B. Balter, E. Selsing, Z. Oruc, and A.A. Khamlichi et al. Sequence dependence of chromosomal R-loops at the immunoglobulin heavy-chain Smu class switch region Mol Cell Biol 27 2007 5921 5932
17. M.S. Neuberger, J.M.D. Noia, R.C.L. Beale, G.T. Williams, Z. Yang, and C. Rada Somatic hypermutation at A·T pairs: polymerase error versus dUTP incorporation Nat Rev Immunol 5 2005 171 178
18. A. Faili DNA polymerase is involved in hypermutation occurring during immunoglobulin class switch recombination J Exp Med 199 2004 265 270
19. C. Rada, J.M. Di Noia, and M.S. Neuberger Mismatch recognition and uracil excision provide complementary paths to both Ig switching and the A/T-focused phase of somatic mutation Mol Cell 16 2004 163 171
20. S. Unniraman, and D.G. Schatz Strand-biased spreading of mutations during somatic hypermutation Science 317 2007 1227 1230
21. P. Perez-Duran, L. Belver, V.G. de Yebenes, P. Delgado, D.G. Pisano, and A.R. Ramiro UNG shapes the specificity of AID-induced somatic hypermutation J Exp Med 209 2012 1379 1389
22. J. Chaudhuri, C. Khuong, and F.W. Alt Replication protein A interacts with AID to promote deamination of somatic hypermutation targets Nature 430 2004 992 998
23. B. Kavli, S. Andersen, M. Otterlei, N.B. Liabakk, K. Imai, and A. Fischer et al. B cells from hyper-IgM patients carrying UNG mutations lack ability to remove uracil from ssDNA and have elevated genomic uracil J Exp Med 201 2005 2011 2021
24. R. Chahwan, J.M.M. van Oers, E. Avdievich, C. Zhao, W. Edelmann, and M.D. Scharff et al. The ATPase activity of MLH1 is required to orchestrate DNA double-strand breaks and end processing during class switch recombination J Exp Med 209 2012 671 678
25. S. Péron, A. Metin, P. Gardës, M.-A. Alyanakian, E. Sheridan, and C.P. Kratz et al. Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination J Exp Med 205 2008 2465 2472
26. P. Gardës, M. Forveille, M.-A. Alyanakian, P. Aucouturier, D. Ilencikova, and D. Leroux et al. Human MSH6 deficiency is associated with impaired antibody maturation J Immunol 188 2012 2023 2029
27. F. Delbos, S. Aoufouchi, A. Faili, J.-C. Weill, and C.-A. Reynaud DNA polymerase eta is the sole contributor of A/T modifications during immunoglobulin gene hypermutation in the mouse J Exp Med 204 2007 17 23
28. K. Imai, N. Catalan, A. Plebani, L. Maródi, O. Sanal, and S. Kumaki et al. Hyper-IgM syndrome type 4 with a B lymphocyte-intrinsic selective deficiency in Ig class-switch recombination J Clin Invest 112 2003 136 142
29. S. Péron, Q. Pan-Hammarström, K. Imai, L. Du, N. Taubenheim, and O. Sanal et al. A primary immunodeficiency characterized by defective immunoglobulin class switch recombination and impaired DNA repair J Exp Med 204 2007 1207 1216