Somatic hypermutation of Ig genes in patients with xeroderma pigmentosum (XP-D)

International Immunology

Volumn 8, Issue 5, 1996, Pages 701-705

  Wagner, Simon D ^a,d   Elvin, John G ^a   Norris, Paul ^b   McGregor, Jane M ^c   Neuberger, Michael S ^a  

^a MRC LABORATORY OF MOLECULAR BIOLOGY   (United Kingdom)

^b ADDENBROOKE S HOSPITAL   (United Kingdom)

^c ST THOMAS HOSPITAL   (United Kingdom)

^d NORTH MIDDLESEX UNIVERSITY HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR;

ARTICLE; EXCISION REPAIR; GENE MUTATION; GENE REARRANGEMENT; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; IMMUNOGLOBULIN GENE; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL; SOMATIC MUTATION; XERODERMA PIGMENTOSUM;

EID: 0029871507     PISSN: 09538178     EISSN: None     Source Type: Journal    
DOI: 10.1093/intimm/8.5.701     Document Type: Article

References (31)

1. Maizels, N 1995 Somatic hypermutation, how many mechanisms diversify V region sequences? Cell 83 9
2. Neuberger, M S. and Milstein, C 1995 Somatic hypermutation Curr Opin Immunol 7:248
3. Gearhart, P. J Somatic mutation and affinity maturation. In Paul, W E , ed., Fundamental Immunology, 3rd edn, p 865. Raven Press, New York
4. Berek, C and Ziegner, M 1993. The maturation of the immune response Immunol Today 14 400.
5. Friedberg, E C 1992 Xeroderma pigmentosum, Cockayne's syndrome, helicases and DNA repair what's the relationship? Cell 71 887.
6. Cleaver, J E 1994 It was a very good year for DNA repair Cell 76:1.
7. Venema, J , Mullenders, L H. F , Natarajan, A T Van Zealand A A and Mayne, L V 1990 The genetic defect in Cockayne's syndrome is associated with a defect in repair of uv induced damage in transcriptionally active DNA Proc Natl Acad Sci. USA 87:4707
8. Schaeffer, L., Moncollin, V. Roy, R. et al 1994 The ERCC2/ DNA repair protein is associated with the class II BTF2/TFIIH transcription factor EMBO J 13 2388.
9. Schaeffer, L , Roy, R., Humbert, S., et al. 1993 DNA repair helicase: a component of BTF2 (TFIIH) basic transcription factor. Science 260 58.
10. Betz, A., Milstein, C., Gonzalez-Fernandez, A., Pannell, R., Larson, T. and Neuberger, M. S. 1994 Elements regulating somatic hypermutation of an immunoglobulin κ gene critical role for the intron enhancer/matrix attachment region Cell 77:239.
11. Sharpe, M J , Milstein, C., Jarvis, J M and Neuberger, M. S 1991. Somatic hypermutation of immunoglobulin κ may depend on sequences 3′ of Cκ and occurs on passenger transgenes EMBO J 10 2139.
12. Lebécque, S G and Gearhart, P J 1990. 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. 172:1717
13. Both, G. W , Taylor, L , Pollard, J W and Steele, E. J 1990 Distribution of mutations around rearranged heavy chain antibody variable-region genes. Mol Cell Biol. 10:5187
14. Rogerson, B. J 1994 Mapping the upstream boundary of somatic mutations in rearranged immunoglobulin transgenes and endogenous genes Mol. Immunol. 31 83.
15. Rada, C., González-Fernández, A , Jarvis, J. M and Milstein, C 1994 The 5′ boundary of somatic hypermutation in a Vκ gene is in the leader intron. Eur. J. Immunol. 24:1453.
16. González-Fernández, A., Gupta, S. K., Pannell, R , Neuberger, M. S. and Milstein, C 1994 Somatic mutation of immunoglobulin I chain: a segment of the major intron hypermutates as much as the complementarity-determining regions Proc Natl Acad. Sci USA 91:12614.
17. Golding, G. B., Gearhart, P J. and Glickman, B. W. 1987. Patterns of somatic mutations in immunoglobulin variable genes. Genetics 115:169
18. Betz, A G., Rada, C., Panneli, R., Milstein, C and Neuberger, M S 1993. Passenger transgenes reveal intrinsic specificity of the antibody hypermutation mechanism clustering polarity and specific hotspots. Proc Natl Acad. Sci. USA 90 2385.
19. Betz, A G , Neuberger, M S. and Milstein, C M 1993 Discriminating intrinsic and antigen selected mutational hotspots m immunoglobulin V genes. Immunol Today 14 405
20. Feaver, W J , Svejstrup, J Q , Bardwell, L , et al 1993 Dual roles of a multiprotein complex from S cerevesiae in transcription and DNA repair. Cell 75:1379.
21. Broughton, B C , Steingrimsdottir, H., Weber, C A and Lehmann, A R. 1994. Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy Nature Genet. 7:189.
22. Cook, G P. and Tomlinson, I M. 1995. Human immunoglobulin variable region genes Immunol Today 16:237.
23. Stewart, A. K , Huang, C , Stollar, B. D and Schwartz, R. S 1993 High-frequency representation of a single VH gene in the expressed human B cell repertoire. J Exp Med 177 409.
24. + B cells, the major B cell subset in the peripheral blood, express Vκ genes with no or little somatic mutation throughout life. Eur. J. Immunol 23 3272
25. Rogozin, I. B. and Kolchanov, N A 1992. Somatic hypermutagenesis in immunoglobulin genes. II. Influence of neighbouring base sequences on mutagenesis Biochim Biophys Acta 1171:11
26. Brüggemann, M , Spicer, C., Buluwela, L., et al 1991 Human antibody production in transgenic mice, expression from 100 kb of the human IgH locus. Eur J. Immunol 21 1323.
27. Marks, J D., Hoogenboom, H. R., Bonnert, T P , McCafferty, J., Griffiths, A. D and Winter, G. 1991. By-passing immunization: human antibodies from V-gene libraries displayed on phage. J Mol Biol. 222:581.
28. Kraemer, K H., Coon, H. G., Pettinga, R A , Barrett, S. F., Rahe, A. E. and Robbins, J. H. 1975 Genetic heterogeneity in xeroderma pigmentosum: complementation groups and their relationship to DNA repair rates. Proc. Natl Acad. Sci. USA 72:59
29. Matthyssens, G. and Rabbitts, T. H. 1980. Structure and multiplicity of genes for the human immunoglobulin heavy chain variable region. Proc. Natl Acad. Sci. USA 77:6561.
30. Tomlinson, I. M., Walter, G., Marks, J. D , Llewelyn, M B and Winter, G 1992. The repertoire of human germline VH sequences reveals about fifty groups of VH segments with different hypervariable loops J Mol Biol 227 776
31. Matsuda, F., Shin, E. K , Nagaoka, H., et al. 1993. Structure and physical map of 64 variable segments in the 3′ 0.8-megabase region of the human immunoglobulin heavy chain locus. Nature Genet 3 88