title: Complete primary structure, chromosomal localisation, and definition of polymorphisms of the gene encoding the human interleukin-12 p40 subunit.
abstract: Owing to the importance of interleukin (IL)-12 in regulating immune responses, we have determined the complete genomic sequence and organization of the gene encoding its p40 subunit. The genomic sequence was determined and was compared to cDNA sequences to derive exon/intron boundaries. Unusually, both the first and last of the eight exons of this gene are not translated. An extensive search identified several polymorphisms in IL-12p40, including repeat elements in introns 2 and 4 and a polymorphic Taql site in the 3'UTR. However, no polymorphisms were found which could result in amino acid substitutions. This finding places constraints on any preferential involvement of alleles of IL-12p40 in contributing to autoimmune, inflammatory or infectious diseases.
authors.affiliation: Complex Genetic Diseases Laboratory, and Cooperative Research Centre for Discovery of Genes for Common Human Diseases, Walter and Eliza Hall Institute of Medical Research, PO Royal Melbourne Hospital, Victoria 3050, Australia.
authors.forename: D
authors.initials: D
authors.lastname: Huang
authors.forename: M R
authors.initials: MR
authors.lastname: Cancilla
authors.forename: G
authors.initials: G
authors.lastname: Morahan
mesh_terms: D002874:Chromosome Mapping / Q000379:methods; D002895:Chromosomes, Human, Pair 5; D006801:Humans; D018664:Interleukin-12 / Q000235:genetics*; D011110:Polymorphism, Genetic
chemical_list: D018664:Interleukin-12