V411L : Biochemical assays

The V411L substitution in human POLE and the analogous V426L substitution in Saccharomyces cerevisiae Pol2 cause a slight reduction in the exonuclease activity of DNA polymerase ε. 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/
• Barbari, S.R. et al. Enhanced polymerase activity permits efficient synthesis by cancer-associated DNA polymerase ε variants at low dNTP levels. Nucleic Acids Res 50, 8023-8040 (2022). https://pubmed.ncbi.nlm.nih.gov/35822874/