ArticleHuman genetics1994
Molecular analysis of the T17 immunoglobulin CH multigene deletion (del A1-GP-G2-G4-E).
Article in Human genetics, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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14 citing papers in PubMed, 34 citations in OpenAlex.
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- The human IG heavy chain constant gene locus is enriched for large structural variants and coding polymorphisms that vary among human populations.Cell genomics · 2026Article
- IMGT Nomenclature and IMGT Unique Numbering: The Two Pillars of 35 Years of Immunoinformatics for Immunoglobulins (IG) or Antibodies and T Cell Receptors (TR).Methods in molecular biology (Clifton, N.J.) · 2026Article
- The human IG heavy chain constant gene locus is enriched for large structural variants and coding polymorphisms that vary among human populations.bioRxiv : the preprint server for biology · 2025Article
- IMGTNAR genomics and bioinformatics · 2025Article
- Antibody Sequence and Structure Analyses Using IMGTMethods in molecular biology (Clifton, N.J.) · 2023Article
- IMGTBiomolecules · 2022Article
- Immunoglobulins or Antibodies: IMGTBiomedicines · 2020Review
- Complete haplotype sequence of the human immunoglobulin heavy-chain variable, diversity, and joining genes and characterization of allelic and copy-number variation.American journal of human genetics · 2013Article
- The immunoglobulin heavy chain locus: genetic variation, missing data, and implications for human disease.Genes and immunity · 2012Review
- Selective IgA deficiency.Journal of clinical immunology · 2010Review
- Human dendritic cells skew isotype switching of CD40-activated naive B cells towards IgA1 and IgA2.The Journal of experimental medicine · 1997Article
- Membrane isoforms of human immunoglobulins of the A1 and A2 isotypes: structural and functional study.Immunology · 1997Article
- Salivary IgG subclasses in individuals with and without homozygous IGHG gene deletions.Immunology · 1996Article
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In the human, the order of the immunoglobulin heavy chain constant region (Ig CH) genes is the following: 5'-M-D-G3-G1-EP1-A1-GP-G2-G4-E-A2-3'. Extensive multigene deletions have been described in the Ig CH locus, some of these encompassing up to 160 kb. To date six different multigene deletion haplotypes have been identified, designated I to VI according to the chronological order of their being found: deletion I (del G1-EP1-A1-GP-G2-G4), II (del EP1-A1-GP), III (del A1-GP-G2-G4-E), IV (del EP1-A1-GP-G2-G4), V (del GP-G2-G4-E-A2), VI (del G1-EP1-A1-GP-G2). Individuals were found either homozygous for one type of deletion or heterozygous for two different deletions, mainly (17 cases out of 18) in the Mediterranean area. So far, deletions I and II have been found in Tunisia, deletions III, IV and V in Italy, and deletion VI in Sweden. In this paper, we show that a Tunisian, T17, previously reported as being homozygous for a deletion of type IV, is, in fact, homozygous for a deletion that encompasses A1-GP-G2-G4-E. Therefore T17 is the first case of a deletion of type III reported in the Tunisian population. Molecular analysis demonstrates that the T17 deletion occurred between highly homologous regions located downstream of IGHEP1 and IGHE, respectively. In contrast to the EZZ deletion, the recombination occurred near or in the switch regions, since the homologous regions involved in the deletion extend over 4.5 kb of DNA and encompass the I alpha 1-S alpha 1 and I alpha 2-S alpha 2 regions, respectively.
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