P286R : Biochemical assays

The P286R substitution in human POLE and the analogous P301R substitution in Saccharomyces cerevisiae Pol2 severely reduce the exonuclease activity and increase the polymerase error rate in vitro. Data in yeast also indicate increased DNA polymerase activity.

• Shinbrot, E. et al. Exonuclease mutations in DNA polymerase epsilon reveal replication strand specific mutation patterns and human origins of replication. Genome Res 24, 1740-50 (2014). pubmed.ncbi.nlm.nih.gov/25228659/
• Xing, X. et al. A recurrent cancer-associated substitution in DNA polymerase ε produces a hyperactive enzyme. Nat Commun 10, 374 (2019). pubmed.ncbi.nlm.nih.gov/30670691/