R689W : Mutation rate in yeast
The Saccharomyces cerevisiae pol3-R696W mutation mimicking human POLD1-R689W strongly elevates the mutation rate when wild-type POLD1 expression is downregulated. Heterozygous POL3/pol3-R696W cells expressing both alleles have a moderately increased mutation rate.
References
- 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/