R689W : Biochemical assays

The R689W substitution in human POLD1 and the analogous R696W substitution in Saccharomyces cerevisiae Pol3 decrease the accuracy of DNA synthesis by DNA polymerase δ in vitro.

• Daee, D.L., Mertz, T.M., Shcherbakova, P.V. A cancer-associated DNA polymerase δ variant modeled in yeast causes a catastrophic increase in genomic instability. Proc Natl Acad Sci USA 107, 157-162 (2010). https://pubmed.ncbi.nlm.nih.gov/19966286/
• Mertz, T.M., Sharma, S, Chabes, A. & Shcherbakova, P.V. Colon cancer-associated mutator DNA polymerase δ variant causes expansion of dNTP pools increasing its own infidelity. Proc Natl Acad Sci USA 112, E2467–E2476 (2015). https://pubmed.ncbi.nlm.nih.gov/25827231/
• Mertz, T.M., Baranovskiy, A.G, Wang, J., Tahirov, T.H. & Shcherbakova, P.V. Nucleotide selectivity defect and mutator phenotype conferred by a colon cancer-associated DNA polymerase δ mutation in human cells. Oncogene 36, 4427-4433 (2017). https://pubmed.ncbi.nlm.nih.gov/28368425/