title: A novel insertion variant of the human IL-23 receptor-alpha chain transcript.
abstract: Alternative splicing of mRNA is an important mechanism for organisms to enhance protein diversity from a limited number of genes. In this report, we described a novel exon insertion in the interleukin 23 (IL-23) receptor between exons 9 and 10, denoted as exon 9a. This 162 base-pair insertion was the only insertion variant discovered in more than 20 IL23R deletion variants found in the mRNA of mitogen-stimulated peripheral blood mononuclear cells (PBMC). Sequence analysis revealed that a pair of GT/AG splice donor-acceptor site and several putative cis-acting sequences were present; the insertion was identified throughout the genome and found to contain homology to the L1 retrotransposon protein. This report describes an insertion in the IL-23 receptor and due to consequent early termination within the intracellular region, causing a possible non-responsive receptor isoform.
authors.affiliation: Genetic Immunology Laboratory, HUMIGEN LLC, The Institute for Genetic Immunology, Hamilton, NJ, USA.
authors.forename: G
authors.initials: G
authors.lastname: Mancini
authors.forename: S-h
authors.initials: SH
authors.lastname: Kan
authors.forename: G
authors.initials: G
authors.lastname: Gallagher
mesh_terms: D001483:Base Sequence; D005091:Exons; D006801:Humans; D007963:Leukocytes, Mononuclear / Q000378:metabolism; D008969:Molecular Sequence Data; D016254:Mutagenesis, Insertional; D022821:RNA Splice Sites; D018123:Receptors, Interleukin / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism
chemical_list: C515500:IL23R protein, human; D022821:RNA Splice Sites; D018123:Receptors, Interleukin