R506H : Mutation rate in human cells

HeLa cells with an engineered heterozygous POLD1-R506H mutation show no increase in the mutation rate. Heterozygosity for POLD1-R506H marginally increases the mutation rate and destabilizes mononucleotide repeats when MSH2 is additionally deleted.

• Shioi, S. et al. DNA polymerase delta Exo domain stabilizes mononucleotide microsatellites in human cells. DNA Repair 108, 103216 (2021). https://pubmed.ncbi.nlm.nih.gov/34530183/