Familial clustering of IGHC deletions and duplications: functional and molecular analysis

Andrea Bottaro, Roberto Gallina, Alfredo Brusco, Umberto Cariota, Cleide Boccazzi, Maria Rosa Barilaro, Alessandro Plebani, Alberto G. Ugazio, Alfred M. van Leeuwen, Gerda G. DeLange, Jean Pierre Vaerman, Angelo O. Carbonara

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Abstract

The human immunoglobulin heavy chain constant region locus (IGHC) comprises nine genes and two pseudogenes clustered in a 350 kilobase (kb) region on chromosome 14q32. Several IGHC haplotypes with single or multiple gene deletions and duplications have been characterized. The most likely mechanism accounting for these unusual haplotypes is the unequal crossing-over between homologous regions within the locus. Here we report the analysis of an unusual case of familial clustering of deletions/duplications. In the two branches of the BON family, three duplicated and two deleted haplotypes, all probably independent in origin, have been characterized. The structure of the haplotypes, one of which is described here for the first time, supports the hypothesis of homologous unequal crossing-over as the origin of recombinant haplotypes. The analysis of serological markers in a subject carrying one deleted and one duplicated haplotype allowed us the first direct inferences concerning the functions of the duplicated IGHC haplotypes.

Original languageEnglish
Pages (from-to)356-363
Number of pages8
JournalImmunogenetics
Volume37
Issue number5
DOIs
Publication statusPublished - Jan 1993

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Haplotypes
Cluster Analysis
Immunoglobulin Heavy Chains
Pseudogenes
Gene Duplication
Gene Deletion
Chromosomes
Genes

ASJC Scopus subject areas

  • Immunology
  • Genetics

Cite this

Bottaro, A., Gallina, R., Brusco, A., Cariota, U., Boccazzi, C., Barilaro, M. R., ... Carbonara, A. O. (1993). Familial clustering of IGHC deletions and duplications: functional and molecular analysis. Immunogenetics, 37(5), 356-363. https://doi.org/10.1007/BF00216800

Familial clustering of IGHC deletions and duplications : functional and molecular analysis. / Bottaro, Andrea; Gallina, Roberto; Brusco, Alfredo; Cariota, Umberto; Boccazzi, Cleide; Barilaro, Maria Rosa; Plebani, Alessandro; Ugazio, Alberto G.; van Leeuwen, Alfred M.; DeLange, Gerda G.; Vaerman, Jean Pierre; Carbonara, Angelo O.

In: Immunogenetics, Vol. 37, No. 5, 01.1993, p. 356-363.

Research output: Contribution to journalArticle

Bottaro, A, Gallina, R, Brusco, A, Cariota, U, Boccazzi, C, Barilaro, MR, Plebani, A, Ugazio, AG, van Leeuwen, AM, DeLange, GG, Vaerman, JP & Carbonara, AO 1993, 'Familial clustering of IGHC deletions and duplications: functional and molecular analysis', Immunogenetics, vol. 37, no. 5, pp. 356-363. https://doi.org/10.1007/BF00216800
Bottaro A, Gallina R, Brusco A, Cariota U, Boccazzi C, Barilaro MR et al. Familial clustering of IGHC deletions and duplications: functional and molecular analysis. Immunogenetics. 1993 Jan;37(5):356-363. https://doi.org/10.1007/BF00216800
Bottaro, Andrea ; Gallina, Roberto ; Brusco, Alfredo ; Cariota, Umberto ; Boccazzi, Cleide ; Barilaro, Maria Rosa ; Plebani, Alessandro ; Ugazio, Alberto G. ; van Leeuwen, Alfred M. ; DeLange, Gerda G. ; Vaerman, Jean Pierre ; Carbonara, Angelo O. / Familial clustering of IGHC deletions and duplications : functional and molecular analysis. In: Immunogenetics. 1993 ; Vol. 37, No. 5. pp. 356-363.
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