title: Identification of two new alleles, IGHV3-23*04 and IGHJ6*04, and the complete sequence of the IGHV3-h pseudogene in the human immunoglobulin locus and their prevalences in Danish Caucasians.
abstract: More than 100 variable (V), 27 diversity (D), and six joining (J) genes are encoded in the human heavy chain locus, and many of these genes exists in different allelic forms. The number of genes and the allelic differences help to create diversity in the immunoglobulin receptors, a key feature of the adaptive immune system. We here report the identification of two novel and seemingly functional alleles of human heavy chain genes. The variable IGHV3-23*04 allele is found with an allele frequency of 0.21 amongst Danish Caucasians, whereas the novel joining IGHJ6*04 allele is rare (allele frequency 0.02). We also report the full sequence of IGHV3-h. The gene exists in two allelic forms but is only found in 58% of the Danish Caucasians studied. The methionine translation initiation codon is mutated, ATG-->AAG, and we therefore propose that the gene is a pseudogene incapable of being translated.
authors.affiliation: Department of Clinical Immunology, Odense University Hospital, 5000, Odense C, Denmark.
authors.forename: Line
authors.initials: L
authors.lastname: Ohm-Laursen
authors.forename: Stine Rosenkilde
authors.initials: SR
authors.lastname: Larsen
authors.forename: Torben
authors.initials: T
authors.lastname: Barington
mesh_terms: D000328:Adult; D000483:Alleles; D000595:Amino Acid Sequence; D001483:Base Sequence; D003718:Denmark; D005828:Genetics, Population; D005838:Genotype; D006801:Humans; D007143:Immunoglobulin Heavy Chains / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D011544:Pseudogenes; D044465:White People
chemical_list: D007143:Immunoglobulin Heavy Chains