Lise Lotte Hansen

A nine-nucleotide deletion and splice variation in the coding region of the interferon induced ISG12 gene

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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.

Original languageEnglish
JournalB B A - Proteins and Proteomics
Volume1638
Issue3
Pages (from-to)227-34
Number of pages8
ISSN0006-3002
Publication statusPublished - 30 Jul 2003

    Research areas

  • Alternative Splicing, Base Sequence, Blood, Cervical Intraepithelial Neoplasia, DNA, Complementary, Female, Gene Deletion, Genetic Variation, HeLa Cells, Humans, Interferons, Leukocytes, Membrane Proteins, Molecular Sequence Data, Protein Biosynthesis, Protein Isoforms, Proteins, Sequence Alignment, Tumor Cells, Cultured, Uterine Cervical Neoplasms, Comparative Study, Journal Article, Research Support, Non-U.S. Gov't

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