title: A nine-nucleotide deletion and splice variation in the coding region of the interferon induced ISG12 gene.
abstract: Interferons (IFNs) are a family of cytokines with growth inhibitory, and antiviral functions. IFNs exert their biological actions through the expression of more than 1000 IFN stimulated genes, ISGs. ISG12 is an IFN type I induced gene encoding a protein of M(r) 12,000. We have identified a novel, IFN inducible splice variant of ISG12 lacking exon 2 leading to a putative truncated protein isoform of M(r) 7400, ISG12-S. In cells from blood and cervical cytobrush material from healthy women, the level of ISG12-S expression was higher than ISG12 expression, whereas the expression pattern was more evenly distributed between ISG12 and ISG12-S in breast carcinoma cells, in cancer cell lines and in cervical cytobrush material with neoplastic lesions. In addition, we have found a nine-nucleotide deletion situated in exon 4 of the ISG12 gene. This deletion leads to a three-amino-acid deletion (AMA) in the putative ISG12 gene products, ISG12Delta and ISG12-SDelta. We have determined the prevalence of the deletion ISG12Delta in normal and neoplastic cells. Homozygosity ISG12(0/0) and ISG12(Delta/Delta), and heterozygosity ISG12(0/Delta) were found, although the ISG12(Delta/Delta) genotype was rare. In heterozygous cells from cytobrush material with neoplastic lesions, we found a preference for expression of the ISG12(0) allele.
authors.affiliation: Department of Molecular Biology, University of Aarhus, C.F. Mollers Allé Building 130, 8000 C., Aarhus, Denmark.
authors.forename: Kamille C J
authors.initials: KC
authors.lastname: Smidt
authors.forename: Lise Lotte
authors.initials: LL
authors.lastname: Hansen
authors.forename: T Max M
authors.initials: TM
authors.lastname: Søgaard
authors.forename: Lone K
authors.initials: LK
authors.lastname: Petersen
authors.forename: Ulla B
authors.initials: UB
authors.lastname: Knudsen
authors.forename: Pia M
authors.initials: PM
authors.lastname: Martensen
mesh_terms: D017398:Alternative Splicing; D001483:Base Sequence; D001769:Blood; D018076:DNA, Complementary / Q000096:biosynthesis; D005260:Female; D017353:Gene Deletion; D014644:Genetic Variation; D006367:HeLa Cells; D006801:Humans; D007372:Interferons / Q000494:pharmacology; D007962:Leukocytes / Q000378:metabolism*; D008565:Membrane Proteins; D008969:Molecular Sequence Data; D014176:Protein Biosynthesis; D020033:Protein Isoforms / Q000235:genetics; D011506:Proteins / Q000235:genetics*; D016415:Sequence Alignment; D014407:Tumor Cells, Cultured; D002583:Uterine Cervical Neoplasms / Q000235:genetics / Q000378:metabolism*; D002578:Uterine Cervical Dysplasia / Q000235:genetics / Q000378:metabolism*
chemical_list: D018076:DNA, Complementary; C406887:IFI27 protein, human; D008565:Membrane Proteins; D020033:Protein Isoforms; D011506:Proteins; D007372:Interferons