A multigene deletion in the human IGH constant region locus involves highly homologous hot spots of recombination.
A simultaneous absence of the IgG1, IgG2, IgG4, and IgA1 immunoglobulins (Ig) was unambiguously demonstrated in six healthy individuals of two different families (family HASS and family TOU). These individuals were shown to be homozygous for a large deletion in the immunoglobulin heavy chain constant region locus. This deletion, which encompasses the G1-EP1-A1-GP-G2-G4 genes, allowed us to predict an order for the IgCH genes and to localize GP between A1 and G2. In this paper, we study the deletion-recombination point in the IGH locus of individual EZZ from the TOU family. We show that the distance between the G3 and the E genes on the EZZ recombinant chromosome is 24.7 kb and that the multigene deletion in the IgCH locus involves two highly homologous regions (hsg3 and hsg4) which are hot spots of recombination, outside of the switch sequences.
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Laboratoire d'Immunogénétique Moléculaire, URA CNRS 199, Université des Sciences et Techniques du Languedoc, Montpellier, France.
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D001483:Base Sequence; D015139:Blotting, Southern; D002872:Chromosome Deletion; D015342:DNA Probes; D005803:Genes, Immunoglobulin; D006801:Humans; D007127:Immunoglobulin Constant Regions / Q000235:genetics*; D007129:Immunoglobulin Gm Allotypes; D007134:Immunoglobulin Switch Region / Q000235:genetics; D008969:Molecular Sequence Data; D011995:Recombination, Genetic; D015183:Restriction Mapping; D012689:Sequence Homology, Nucleic Acid
D015342:DNA Probes; D007127:Immunoglobulin Constant Regions; D007129:Immunoglobulin Gm Allotypes