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

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...

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Published in:	Biochimica et biophysica acta Vol. 1638; no. 3; pp. 227 - 234
Main Authors:	Smidt, Kamille C.J., Hansen, Lise Lotte, Søgaard, T.Max.M., Petersen, Lone K., Knudsen, Ulla B., Martensen, Pia M.
Format:	Journal Article
Language:	English
Published:	Netherlands Elsevier B.V 30-07-2003
Subjects:	Alternative Splicing Base Sequence Blood Breast cancer Cervical Intraepithelial Neoplasia - genetics Cervical Intraepithelial Neoplasia - metabolism Cervix cancer DNA, Complementary - biosynthesis Female Gene Deletion Genetic Variation HeLa Cells Humans IFNα IFNβ Interferons - pharmacology ISG12 ISG12-S Leukocytes - metabolism Membrane Proteins Molecular Sequence Data Protein Biosynthesis Protein Isoforms - genetics Proteins - genetics Sequence Alignment Tumor Cells, Cultured Uterine Cervical Neoplasms - genetics Uterine Cervical Neoplasms - metabolism Cervix cancer IFNα Breast cancer IFNβ ISG12-S ISG12
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Summary:	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, ISG12Δ and ISG12-SΔ. We have determined the prevalence of the deletion ISG12Δ in normal and neoplastic cells. Homozygosity ISG12(0/0) and ISG12(Δ/Δ), and heterozygosity ISG12(0/Δ) were found, although the ISG12(Δ/Δ) genotype was rare. In heterozygous cells from cytobrush material with neoplastic lesions, we found a preference for expression of the ISG12(0) allele.
ISSN:	0925-4439 0006-3002 1879-260X
DOI:	10.1016/S0925-4439(03)00087-5