Frequent mutations in the 3'-untranslated region of IFNGR1 lack functional impairment in microsatellite-unstable colorectal tumours

Eur J Hum Genet. 2008 Oct;16(10):1235-9. doi: 10.1038/ejhg.2008.81. Epub 2008 Apr 16.

Abstract

Microsatellite repeats are frequently found to be mutated in microsatellite-instable colorectal tumours. This suggests that these mutations are important events during tumour development. We have observed frequent mutations in microsatellite-instable (MSI-H) tumours and cell lines of a conserved A14 repeat within the 3'-untranslated region of the interferon-gamma receptor 1 gene (IFNGR1). The repeat was mutated in 59% (41 of 70) of colon carcinomas and in all four MSI-H colon cancer cell lines tested. In-vitro analysis of these cell lines did not show a decreased responsiveness to standard IFNgamma concentrations when compared to microsatellite-stable colon cancer cell lines. A functional consequence of the frequently found microsatellite instability in IFNGR1 is therefore not evident.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 3' Untranslated Regions / genetics*
  • Cell Line, Tumor
  • Colorectal Neoplasms / genetics*
  • Humans
  • Interferon gamma Receptor
  • Microsatellite Instability*
  • Microsatellite Repeats / genetics*
  • Mutation / genetics*
  • Receptors, Interferon / genetics*

Substances

  • 3' Untranslated Regions
  • Receptors, Interferon