Imprint of somatic hypermutation differs in human immunoglobulin heavy and lambda chain variable gene segments

Molecular Immunology

Volumn 39, Issue 16, 2003, Pages 1025-1034

  Boursier, Laurent ^a   Su, Wen ^a   Spencer, Jo ^a  

^a KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

B lymphocyte; Human; Immunoglobulin gene; Repertoire development; Somatic hypermutation

Indexed keywords

IMMUNOGLOBULIN HEAVY CHAIN; IMMUNOGLOBULIN LAMBDA CHAIN;

ARTICLE; B LYMPHOCYTE; CASE REPORT; CELL MATURATION; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; GERM LINE; HUMAN; HUMAN TISSUE; HUMORAL IMMUNITY; MALE; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PLASMA CELL; PRIORITY JOURNAL; SOMATIC HYPERMUTATION; T LYMPHOCYTE;

EID: 0037718449     PISSN: 01615890     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0161-5890(03)00033-6     Document Type: Article

References (34)

1. Bebenek K., Tissier A., Frank E.G., McDonald J.P., Prasad R., Wilson S.H., Woodgate R., Kunkel T.A. 5′-Deoxyribose phosphate lyase activity of human DNA polymerase ι in vitro. Science. 291:2001;2156-2159.
2. Berek C., Berger A., Apel M. Maturation of the immune response in germinal centers. Cell. 67:1991;1121-1129.
3. Boursier L., Dunn-Walters D.K., Spencer J. Sequence analysis of light chain genes from human plasma cells demonstrates that lambda genes are almost all in-frame and highly mutated and most kappa genes are highly mutated when in-frame and minimally mutated when out-of-frame. Eur. J. Immunol. 30:2000;2908-2917.
4. Bräuninger A., Küppers R., Spieker T., Siebert R., Strickler J.G., Schlegelberger B., Rajewsky K., Hansmann M.L. Molecular analysis of single B cells from T-cell-rich B-cell lymphoma shows the derivation of the tumor cells from mutating germinal center B cells and exemplifies means by which immunoglobulin genes are modified in germinal center B cells. Blood. 93:1999;2679-2687.
5. Cowell L.G., Kim H.-J., Humaljoki T., Berek C., Kepler T.B. Enhanced evolvability in immunoglobulin V genes under somatic hypermuation. J. Mol. Evol. 49:1999;23-26.
6. Di Noia J., Neuberger M.S. Altering the pathway of immunoglobulin hypermutation by inhibiting uracil-DNA glycosylase. Nature. 419:2002;43-48.
7. Dunn-Walters D.K., Boursier L., Spencer J. Hypermutation, diversity and dissemination of human intestinal lamina propria plasma cells. Eur. J. Immunol. 27:1997;2959-2964.
8. H genes. J. Immunol. 160:1998;2360-2364.
9. Faili A., Aoufouchi S., Flatter E., Guéranger Q., Reynaud C.-A., Weill J.-C. Induction of somatic hypermutation in immunoglobulin genes is dependent on DNA polymerease iota. Nature. 419:2002;944-947.
10. λ repertoire. J. Immunol. 162:1999;2137-2145.
11. Gearhart P.J. The roots of antibody diversity. Nature. 419:2002;29-31.
12. Kepler T.B. Codon bias and plasticity in immunoglobulins. Mol. Biol. Evol. 14:1997;637-643.
13. Lee S.S., Tranchina D., Ohta Y., Flajnik M.J., Hsu E. Hypermutation in shark immunoglobulin light chain genes results in contiguous substitutions. Immunity. 16:2002;571-582.
14. Milstein C., Neuberger M.S., Staden R. Both DNA strands of antibody genes are hypermutation targets. Proc. Natl. Acad. Sci. U.S.A. 95:1998;8791-8794.
15. Monson N.L., Dörner T., Lipsky P.E. Targeting and selection of mutations in human Vλ rearrangements. Eur. J. Immunol. 30:2000;1597-1605.
16. Muramatsu M., Kinoshita K., Fagarasan S., Yamada S., Shinkai Y., Honjo T. Class switch recombination and hypermutation require activation-induced cytidine deaminase (AID), a potential RNA editing enzyme. Cell. 102:2000;553-563.
17. Oprea M., Kepler T.B. Genetic plasticity of V genes under somatic hypermutation: statistical analyses using a new resampling-based methodology. Genome Res. 9:1999;1294-1304.
18. Pavlov Y.I., Rogozin I.B., Galkin A.P., Aksenova A.Y., Hanaoka F., Rada C., Kunkel T.A. Correlation of somatic hypermutation specificity and A-T base pair substitution errors by DNA polymerase η during copying of a mouse immunoglobulin κ light chain transgene. Proc. Natl. Acad. Sci. U.S.A. 99:2002;9954-9959.
19. Petersen-Mahrt S.K., Harris R.S., Neuberger M.S. AID mutates E. coli suggesting a DNA deamination mechanism for antibody diversification. Nature. 418:2002;99-103.
20. Phung Q.H., Winter D.B., Cranston A., Tarone R.E., Bohr V.A., Fishel R., Gearhart P.J. Increased hypermutation at G and C nucleotides in immunoglobulin variable genes from mice deficient in the MSH2 mismatch repair protein. J. Exp. Med. 187:1998;1745-1751.
21. Rada C., Williams G.T., Nilsen H., Barnes D.E., Lindahl T., Neuberger M.S. Immunoglobulin isotype switching is inhibited and somatic hypermutation perturbed in UNG-deficient mice. Curr. Biol. 12:2002;1748-1755.
22. Revy P., Muto T., Levy Y., Geissmann F., Plebani A., Sanal O., Catalan N., Forveille M., Dufourcq-Labelouse R., Gennery A., Tezcan I., Ersoy F., Kayserili H., Ugasio A.G., Brousse N., Muramatsu M., Notarangelo L.D., Kinoshita K., Honjo T., Fischer A., Durandy A. Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the hyper-IgM syndrome (HIGM2). Cell. 102:2000;565-575.
23. Rogozin I.B., Kolchanov N.A. Somatic hypermutagenesis in immunoglobulin genes. Part II. Influence of neighbouring base sequences on mutagenesis. Biochim. Biophys. Acta. 1171:1992;11-18.
24. Rogozin I.B., Pavlov Y.I., Bebenek K., Matsuda T., Kunkel T.A. Somatic mutation hotspots correlate with DNA polymerase η error spectrum. Nat. Immunol. 2:2001;530-536.
25. Shapiro G.S., Aviszus K., Ikle D., Wysocki L.J. Predicting regional mutability in antibody V genes based solely on di- and trinucleotide sequence composition. J. Immunol. 163:1999;259-268.
26. Shapiro G.S., Aviszus K., Murphy J., Wysocki L.J. Evolution of Ig DNA sequence to target specific base positions within codons for somatic hypermutation. J. Immunol. 168:2002;2302-2306.
27. Smith D.S., Creadon G., Jena P.K., Portanova J.P., Kotzin B.L., Wysocki L.J. Di- and trinucleotide target preferences of somatic mutagenesis in normal and autoreactive B cells. J. Immunol. 156:1996;2642-2652.
28. H genes suggest different GC and AT mutators. J. Immunol. 162:1999;6596-6601.
29. Tomlinson, I.M., Williams, S.C., Ignatovich, O., Corbett, S.J., Winter, G., 1998. V BASE sequence directory. Medical Research Council Centre for Protein Engineering, Cambridge, UK.
30. Wagner S.D., Milstein C., Neuberger M.S. Codon bias targets mutation. Nature. 376:1995;732.
31. Wiesendanger M., Kneitz B., Edelmann W., Scharff M.D. 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. 191:2000;579-584.
32. Winter D.B., Phung Q.H., Umar A., Baker S.M., Tarone R.E., Tanaka K., Liskay R.M., Kunkel T.A., Bohr V.A., Gearhart P.J. Altered spectra of hypermutation in antibodies from mice deficient for the DNA mismatch repair protein PMS2. Proc. Natl. Acad. Sci. U.S.A. 95:1998;6953-6958.
33. Yélamos J., Klix N., Goyenechea B., Lozano F., Chui Y.L., González Fernández A., Pannell R., Neuberger M.S., Milstein C. Targeting of non-Ig sequences in place of the V segment by somatic hypermutation. Nature. 376:1995;225-229.
34. Zeng X., Winter D.B., Kasmer C., Kraemer K.H., Lehmann A.R., Gearhart P.J. DNA polymerase η is an A-T mutator in somatic hypermutation of immunoglobulins variable genes. Nat. Immunol. 2:2001;537-541.