M444K : Mutation rate in yeast

The Saccharomyces cerevisiae pol2-M459K mutation mimicking human POLE-M444K causes a mutator phenotype in haploid strains when no wild-type POL2 is present. The POL2/pol2-M459K heterozygotes also have an elevated mutation rate.

• Herzog, M. et al. Mutagenic mechanisms of cancer-associated DNA polymerase ε alleles. Nucleic Acids Res 49, 3919-3931 (2021). pubmed.ncbi.nlm.nih.gov/33764464/
• Ostroverkhova, D. et al. DNA polymerase ε and δ variants drive mutagenesis in polypurine tracts in human tumors. Cell Rep 43, 113655 (2024) https://pubmed.ncbi.nlm.nih.gov/38219146/