The strand bias paradox of somatic hypermutation at immunoglobulin loci

Trends in Immunology

Volumn 29, Issue 4, 2008, Pages 167-172

  Franklin, Andrew ^a   Blanden, Robert V ^b  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b Biology and Environment   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE NUCLEOTIDE; DNA; GUANINE NUCLEOTIDE; IMMUNOGLOBULIN; PYRIMIDINE NUCLEOTIDE; URACIL;

ARTICLE; CELL CYCLE; DEAMINATION; DNA REPAIR; GENE LOCUS; GENETIC ANALYSIS; GENETIC MODEL; GENETIC TRANSCRIPTION; INTRON; MOLECULAR MECHANICS; MUTAGENESIS; NONHUMAN; SOMATIC HYPERMUTATION;

ANIMALS; ANTIBODY DIVERSITY; BASE PAIRING; CELL CYCLE; GENE REARRANGEMENT, B-LYMPHOCYTE; GENES, IMMUNOGLOBULIN; HUMANS; IMMUNOGLOBULINS; MUTAGENESIS; SOMATIC HYPERMUTATION, IMMUNOGLOBULIN;

EID: 41149152150     PISSN: 14714906     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.it.2008.01.008     Document Type: Article

References (47)

1. Faili A., et al. DNA Polymerase {eta} is involved in hypermutation occurring during immunoglobulin class switch recombination. J. Exp. Med. 199 (2004) 265-270
2. Nagaoka H., et al. 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
3. Petersen S., et al. AID is required to initiate Nbs1/gamma-H2AX focus formation and mutations at sites of class switching. Nature 414 (2001) 660-665
4. Rada C., et al. 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
5. Xue K., et al. 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
6. Zeng X., et al. Absence of DNA polymerase {eta} reveals targeting of C mutations on the montranscribed strand in immunoglobulin switch regions. J. Exp. Med. 199 (2004) 917-924
7. Rada C., et al. Hot spot focusing of somatic hypermutation in MSH2-deficient mice suggests two stages of mutational targeting. Immunity 9 (1998) 135-141
8. Franklin A., and Blanden R.V. A/T-targeted somatic hypermutation: critique of the mainstream model. Trends Biochem. Sci. 31 (2006) 252-258
9. Muramatsu M., et al. Class switch recombination and hypermutation require activation-induced cytidine deaminase (AID), a potential RNA editing enzyme. Cell 102 (2000) 553-563
10. Revy P., et al. Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2). Cell 102 (2000) 565-575
11. Petersen-Mahrt S.K., et al. AID mutates E. coli suggesting a DNA deamination mechanism for antibody diversification. Nature 418 (2002) 99-103
12. Bransteitter R., et al. Activation-induced cytidine deaminase deaminates deoxycytidine on single-stranded DNA but requires the action of RNase. Proc. Natl. Acad. Sci. U. S. A. 100 (2003) 4102-4107
13. Chaudhuri J., et al. Transcription-targeted DNA deamination by the AID antibody diversification enzyme. Nature 422 (2003) 726-730
14. Dickerson S.K., et al. AID mediates hypermutation by deaminating single stranded DNA. J. Exp. Med. 197 (2003) 1291-1296
15. Fukita Y., et al. Somatic hypermutation in the heavy chain locus correlates with transcription. Immunity 9 (1998) 105-114
16. Barnes D.E., and Lindahl T. Repair and genetic consequences of endogenous DNA base damage in mammalian cells. Annu. Rev. Genet. 38 (2004) 445-476
17. Imai K., et al. Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination. Nat. Immunol. 4 (2003) 1023-1028
18. Rada C., et al. Immunoglobulin isotype switching is inhibited and somatic hypermutation perturbed in UNG-deficient mice. Curr. Biol. 12 (2002) 1748-1755
19. Nilsen H., et al. Nuclear and mitochondrial uracil-DNA glycosylases are generated by alternative splicing and transcription from different positions in the UNG gene. Nucleic Acids Res. 25 (1997) 750-755
20. Kavli B., 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
21. Shen H.M., et al. Somatic hypermutation and class switch recombination in Msh6(-/-)Ung(-/-) double-knockout mice. J. Immunol. 177 (2006) 5386-5392
22. Genschel J., et al. Human exonuclease I is required for 5′ and 3′ mismatch repair. J. Biol. Chem. 277 (2002) 13302-13311
23. Bardwell P.D., et al. Altered somatic hypermutation and reduced class-switch recombination in exonuclease 1-mutant mice. Nat. Immunol. 5 (2004) 224-229
24. Zeng X., et al. DNA polymerase eta is an A-T mutator in somatic hypermutation of immunoglobulin variable genes. Nat. Immunol. 2 (2001) 537-541
25. Delbos F., et al. Contribution of DNA polymerase eta to immunoglobulin gene hypermutation in the mouse. J. Exp. Med. 201 (2005) 1191-1196
26. Martomo S.A., et al. Different mutation signatures in DNA polymerase {eta}- and MSH6-deficient mice suggest separate roles in antibody diversification. Proc. Natl. Acad. Sci. U. S. A. 102 (2005) 8656-8661
27. Delbos F., et al. 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. Pavlov Y.I., et al. Correlation of somatic hypermutation specificity and A-T base pair substitution errors by DNA polymerase eta during copying of a mouse immunoglobulin kappa light chain transgene. Proc. Natl. Acad. Sci. U. S. A. 99 (2002) 9954-9959
29. Rogozin I.B., et al. Somatic mutation hotspots correlate with DNA polymerase eta error spectrum. Nat. Immunol. 2 (2001) 530-536
30. Hanna Jr. M.G. An autoradiographic study of the germinal center in spleen white pulp during early intervals of the immune response. Lab. Invest. 13 (1964) 95-104
31. Liu Y.J., et al. Sites of specific B cell activation in primary and secondary responses to T cell-dependent and T cell-independent antigens. Eur. J. Immunol. 21 (1991) 2951-2962
32. Zhang J., et al. Is rapid proliferation in B centroblasts linked to somatic mutation in memory B cell clones?. Immunol. Lett. 18 (1988) 297-299
33. de Vinuesa C.G., et al. Germinal centers without T cells. J. Exp. Med. 191 (2000) 485-494
34. Liu Y.J., et al. Mechanism of antigen-driven selection in germinal centres. Nature 342 (1989) 929-931
35. Fliedner T., et al. Cell proliferation in germinal centers of the rat spleen. Ann. N. Y. Acad. Sci. 113 (1964) 578-594
36. Hardie D.L., et al. Quantitative analysis of molecules which distinguish functional compartments within germinal centers. Eur. J. Immunol. 23 (1993) 997-1004
37. Martinez-Valdez H., et al. Human germinal center B cells express the apoptosis-inducing genes Fas, c-myc, P53, and Bax but not the survival gene bcl-2. J. Exp. Med. 183 (1996) 971-977
38. Faili A., et al. AID-dependent somatic hypermutation occurs as a DNA single-strand event in the BL2 cell line. Nat. Immunol. 3 (2002) 815-821
39. Milstein C., et al. Both DNA strands of antibody genes are hypermutation targets. Proc. Natl. Acad. Sci. U. S. A. 95 (1998) 8791-8794
40. Meyers M., et al. Cell cycle regulation of the human DNA mismatch repair genes hMSH2, hMLH1, and hPMS2. Cancer Res. 57 (1997) 206-208
41. Szadkowski M., and Jiricny J. Identification and functional characterization of the promoter region of the human MSH6 gene. Genes Chromosomes Cancer 33 (2002) 36-46
42. Hardeland U., et al. Cell cycle regulation as a mechanism for functional separation of the apparently redundant uracil DNA glycosylases TDG and UNG2. Nucleic Acids Res. 35 (2007) 3859-3867
43. Fischer J.A., et al. Proteolytic degradation of the nuclear isoform of uracil-DNA glycosylase occurs during the S phase of the cell cycle. DNA Repair (Amst.) 3 (2004) 505-513
44. Mayorov V.I., et al. Expression of human AID in yeast induces mutations in context similar to the context of somatic hypermutation at G-C pairs in immunoglobulin genes. BMC Immunol. 6 (2005) 10
45. Unniraman S., and Schatz D.G. Strand-biased spreading of mutations during somatic hypermutation. Science 317 (2007) 1227-1230
46. Nambu Y., et al. Transcription-coupled events associating with immunoglobulin switch region chromatin. Science 302 (2003) 2137-2140
47. Liu Y.J., et al. Within germinal centers, isotype switching of immunoglobulin genes occurs after the onset of somatic mutation. Immunity 4 (1996) 241-250