Mutant GTF2I induces cell transformation and metabolic alterations in thymic epithelial cells

Cell Death Differ. 2020 Jul;27(7):2263-2279. doi: 10.1038/s41418-020-0502-7. Epub 2020 Feb 7.

Abstract

The pathogenesis of thymic epithelial tumors (TETs) is poorly understood. Recently we reported the frequent occurrence of a missense mutation in the GTF2I gene in TETs and hypothesized that GTF2I mutation might contribute to thymic tumorigenesis. Expression of mutant TFII-I altered the transcriptome of normal thymic epithelial cells and upregulated several oncogenic genes. Gtf2i L424H knockin cells exhibited cell transformation, aneuploidy, and increase tumor growth and survival under glucose deprivation or DNA damage. Gtf2i mutation also increased the expression of several glycolytic enzymes, cyclooxygenase-2, and caused modifications of lipid metabolism. Elevated cyclooxygenase-2 expression by Gtf2i mutation was required for survival under metabolic stress and cellular transformation of thymic epithelial cells. Our findings identify GTF2I mutation as a new oncogenic driver that is responsible for transformation of thymic epithelial cells.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Animals
  • Base Sequence
  • Carcinogenesis / genetics
  • Carcinogenesis / pathology
  • Cell Line
  • Cell Survival
  • Cell Transformation, Neoplastic / genetics*
  • Cell Transformation, Neoplastic / pathology
  • Cyclooxygenase 2 / metabolism
  • DNA Damage / genetics
  • Epithelial Cells / metabolism*
  • Epithelial Cells / pathology*
  • Epithelial-Mesenchymal Transition / genetics
  • Gene Expression Profiling
  • Gene Knock-In Techniques
  • Glucose / deficiency
  • Glycolysis
  • Humans
  • Lipids / biosynthesis
  • Mice
  • Mutation / genetics*
  • NIH 3T3 Cells
  • Thymus Gland / pathology*
  • Transcription Factors, TFII / genetics*
  • Transcription Factors, TFII / metabolism

Substances

  • Gtf2i protein, mouse
  • Lipids
  • Transcription Factors, TFII
  • Cyclooxygenase 2
  • Glucose