DNA Polymerase θ Increases Mutational Rates in Mitochondrial DNA

ACS Chem Biol. 2018 Apr 20;13(4):900-908. doi: 10.1021/acschembio.8b00072. Epub 2018 Mar 15.

Abstract

Replication and maintenance of mitochondrial DNA (mtDNA) is essential for cellular function, yet few DNA polymerases are known to function in mitochondria. Here, we conclusively demonstrate that DNA polymerase θ (Polθ) localizes to mitochondria and explore whether this protein is overexpressed in patient-derived cells and tumors. Polθ appears to play an important role in facilitating mtDNA replication under conditions of oxidative stress, and this error-prone polymerase was found to introduce mutations into mtDNA. In patient-derived cells bearing a pathogenic mtDNA mutation, Polθ expression levels were increased, indicating that the oxidative conditions in these cells promote higher expression levels for Polθ. Heightened Polθ expression levels were also associated with elevated mtDNA mutation rates in a selected panel of human tumor tissues, suggesting that this protein can influence mutational frequencies in tumors. The results reported indicate that the mitochondrial function of Polθ may have relevance to human disease.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Cell Line, Tumor
  • DNA Polymerase theta
  • DNA Replication
  • DNA, Mitochondrial / genetics*
  • DNA-Directed DNA Polymerase / physiology*
  • Humans
  • Mutation Rate*
  • Neoplasms / genetics
  • Oxidative Stress

Substances

  • DNA, Mitochondrial
  • DNA-Directed DNA Polymerase