Duplications and deletions of the human IGHC locus: Evolutionary implications

Immunogenetics

Volumn 45, Issue 2, 1996, Pages 136-141

  Rabbani, Hodjattallah ^a   Pan, Qiang ^a   Kondo, Naomi ^b   Smith, C I Edvard ^a   Hammarström, Lennart ^a  

^a KAROLINSKA INSTITUTE   (Sweden)

^b GIFU UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

IMMUNOGLOBULIN HEAVY CHAIN;

ARTICLE; CAUCASIAN; EVOLUTION; GENE DELETION; GENE DUPLICATION; GENE FREQUENCY; HAPLOTYPE; HUMAN; HUMAN CELL; IMMUNOGLOBULIN GENE; MONGOLOID RACE; NEGRO; NORMAL HUMAN; POPULATION GENETICS; PRIORITY JOURNAL; RACE DIFFERENCE;

CONTINENTAL POPULATION GROUPS; ELECTROPHORESIS, GEL, PULSED-FIELD; ETHNIC GROUPS; EVOLUTION, MOLECULAR; GENE DELETION; GENES, IMMUNOGLOBULIN; HAPLOTYPES; HUMANS; IMMUNOGLOBULIN HEAVY CHAINS; MULTIGENE FAMILY; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH;

HOMINOIDEA; IRANIA;

EID: 0029833330     PISSN: 00937711     EISSN: None     Source Type: Journal    
DOI: 10.1007/s002510050181     Document Type: Article

References (32)

1. Bech-Hansen, N. T. and Cox, D. W. Duplication of the human immunoglobulin heavy chain γ2 gene. Am J Hum Genet 38: 67-74, 1986
2. Bech-Hansen, N. T., Linsley, P. S., and Cox, D. W. Restriction fragment length polymorphisms associated with immunoglobulin Cγ genes reveal linkage disequilibrium and genomic organization. Proc Natl Acad Sci USA 80: 6952-6956, 1983
3. Bottaro, A., De Marchi, M., De Lange, G. G., and Carbonara, A. O. Gene deletions within the human immunoglobulin heavy chain constant region gene cluster. Exp Clin Immunogenet 6: 55-59, 1989a
4. Bottaro, A., De Marchi, M., De Lange, G., Boccazzi, C., Caldesi, F., Gallina, R., and Carbonara, A. O. New types of multiple and single gene deletions in the human IgCH locus. Immunogenetics 29: 44-48, 1989b
5. Bottaro, A., De Marchi, M., Migone, N., and Carbonara, A. O. Pulsed-field gel analysis of human immunoglobulin heavy-chain constant region gene deletions reveals the extent of unmapped regions within the locus. Genomics 4: 505-508, 1989c
6. Bottaro, A., Cariota, U., G. D. L. G., De Marchi, M., Gallina, R., Oliviero, S., Vlug, A., and Carbonara, A. O. Multiple levels of analysis of an IGHG4 gene deletion. Hum Genet 86: 191-197, 1990
7. Bottaro, A., Cariota, U., De Marchi, M., and Carbonara, A. O. Pulsed-field electrophoresis screening for immunoglobulin heavy-chain constant-region (IGHC) multigene deletions and duplications. Am J Hum Genet 48: 745-756, 1991
8. Brusco, A., Cariota, U., Bottaro, A., Boccazzi, C., Plebani, A., Ugazio, A. G., Galanello, R., van Leeuwen, A. M., De Lange, G. G., and Depelchin, S. Structural and immunologic analysis of gene triplicatons in the Ig heavy chain constant region locus. J Immunol 152: 129-135, 1994
9. Brusco, A., Cariota, U., Bottaro, A., Boccazzi, C., Plebani, A., Ugazio, A. G., Galanello, R., Guerra, M. G., and Carbonara, A. O. Variability of the immunoglobulin heavy chain constant region locus: a population study. Hum Genet 95: 319-326, 1995
10. Chaabani, H., Bech-Hansen, N. T., and Cox, D. W. A multigene deletion within the immunoglobulin heavy-chain region. Am J Hum Genet 37: 1164-1171, 1985
11. Ellison, J., Buxbaum, J., and Hood, L. Nucleotide sequence of a human immunoglobulin Cγ4 gene. DNA 1: 11-18, 1981
12. Flanagan, J. G. and Rabbitts, T. H. Arrangement of human immunoglobulin heavy chain constant region genes implies evolutionary duplication of a segment containing γ, ε, and α genes. Nature 300: 709-713, 1982
13. Ghanem, N., Bensmana, M., Dugoujon, J. M., Constans, J., Lefranc, M. P., and Lefranc, G. Bam HI and Sal I RFLPs of the human immunoglobulin IGHG genes with reference to the Gm polymorphism in African people. Evidence for a major polymorphism. Hum Genet 83: 37-44, 1989
14. Ghanem, N., Lefranc, M. P., and Lefranc, G. Definition of the RFLP alleles in the human immunoglobulin IGHG gene locus. Eur J Immunol 18: 1059-1065, 1988
15. Hendriks, R. W., van Tol, M. J., De Lange, G. G., and Schuurman, R. K. Inheritance of a large deletion within the human immunoglobulin heavy chain constant region gene complex and immunological implications. Scand J Immunol 29: 535-541, 1989
16. Hofker, M. H., Walter, M. A., and Cox, D. W. Complete physical map of the human immunoglobulin heavy chain constant region gene complex. Proc Natl Acad Sci USA 86: 5567-5571, 1989
17. Jurka, J. Novel families of interspersed repetitive elements from the human genome. Nucleic Acids Res 18: 137-141, 1990
18. Keyeux, G., Lefranc, G., and Lefranc, M. P. A multigene deletion in the human IGH constant region locus involves highly homologous hot spots of recombination. Genomics 5: 431-441, 1989
19. Lefranc, M. P., Lefranc, G., and Rabbitts, T. H. Inherited deletion of immunoglobulin heavy chain constant region genes in normal human individuals. Nature 300: 760-762, 1982
20. Lefranc, M. P., Lefranc, G., De Lange, G. G., Out, T. A., van den Broek, P. J., van Nieuwkoop, J., Radl, J., Helal, A. N., Chaabani, H., van Loghem, E., and Rabbitts, T. H. Instability of the human immunoglobulin heavy chain constant region locus indicated by different inherited chromosomal deletions. Mol Biol Med 1: 207-217, 1983
21. Lefranc, M. P., Hammarstrom, L., Smith, C. I., and Lefranc, G. Gene deletions in the human immunoglobulin heavy chain constant region locus: molecular and immunological analysis. Immunodeficiency: 265-281, 1991
22. Max, E. E., Battey, J., Ney, R., Kirsch, I. R., and Leder, P. Duplication and deletion in the human immunoglobulin ε genes. Cell 29: 691-699, 1982
23. Migone, N., Oliviero, S., De Lange, G., De Lacroix, D. L., Boschis, D., Altruda, F., Silengo, L., De Marchi, M., and Carbonara, A. O. Multiple gene deletions within the human immunoglobulin heavy-chain cluster. Proc Natl Acad Sci USA 81: 5811-5815, 1984
24. Olerup, O., Troye, B. M., Schreuder, G. M., and Riley, E. M.: HLA-DR and -DQ gene polymorphism in West Africans is twice as extensive as in north European Caucasians: evolutionary implications. Proc Natl Acad Sci USA 88: 8480-8484, 1991
25. Olsson, P. G., Hofker, M. H., Walter, M. A., Smith, S., Hammarstrom, L., Smith, C. I. E., and Cox, D. W. Ig H chain variable and C region genes in common variable immunodeficiency. Characterization of two new deletion haplotypes. J Immunol 147: 2540-2546, 1991
26. Olsson, P. G., Rabbani, H., Hammarström, L., and Smith, C. I. E. Novel human Ig H chain constant region gene deletion haplotypes characterized by pulsed-field electrophoresis. Clin Exp Immunol 94: 84-90, 1993
27. Rabbani, H., Kondo, N., Smith, C. I. E., and Hammarström, L. The influence of gene deletions and duplications within the IGHC locus on serum immunoglobulin subclass levels. Clin Immunol Immunopathol 76: 214-218, 1995
28. Smith, C. I. E. and Hammarström, L.: Detection of immunoglobulin genes in individuals with immunoglobulin class or subclass deficiency.. Evidence for a pretranslational defect. Monogr Allergy 20: 18-25, 1986
29. Smith, C. I. E., Hammarström, L., Henter, J.-I., and De Lange, G. G. Molecular and serologic analysis of IgG1 deficiency caused by new forms of the constant region of the Ig H chain gene deletions. J Immunol 142: 4514-4519, 1989
30. Walter, M. A. and Cox, D. W. A method for two-dimensional DNA electrophoresis (2D-DE): application to the immunoglobulin heavy chain variable region. Genomics 5: 157-159, 1989
31. Walter, M. A., Chambers, C. A., Zimmerman, B., and Cox, D. W. A multigene deletion in the immunoglobulin heavy chain region in a highly atopic individual. Hum Genet 85: 643-647, 1990
32. Wiebe, V., Helal, A., Lefranc, M. P., and Lefranc, G. Molecular analysis of the T17 immunoglobulin CH multigene deletion (del A1-GP-G2-G4-E). Hum Genet 93: 520-528, 1994