S478N : Mutation rate in yeast
The Schizosaccharomyces pombe pol3-C462N mutation mimicking human POLD1-S478N elevates the mutation rate in haploid strains when no wild-type pol3 is present. The analogous Saccharomyces cerevisiae pol3-S483N mutation elevates the mutation rate in a homozygous or heterozygous state.
References
- Palles, C. et al. Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. Nat Genet 45, 136–144 (2013). https://pubmed.ncbi.nlm.nih.gov/23263490/
- Mertz, T.M. Characterization of cancer-associated DNA polymerase δ variants. Ph.D. thesis, University of Nebraska Medical Center (2015). https://digitalcommons.unmc.edu/etd_retro/2093/