Article
Enhanced polymerase activity permits efficient synthesis by cancer-associated DNA polymerase ϵ variants at low dNTP levels.
Nucleic acids research - 12 Aug 2022
Barbari Stephanie R, Beach Annette K, Markgren Joel G, Parkash Vimal, Moore Elizabeth A, Johansson Erik, Shcherbakova Polina V
Abstract excerpt
Amino acid substitutions in the exonuclease domain of DNA polymerase ϵ (Polϵ) cause ultramutated tumors. Studies in model organisms suggested pathogenic mechanisms distinct from a simple loss of exonuclease. These mechanisms remain unclear for most recurrent Polϵ mutations. Particularly, the highly prevalent V411L variant remained a long-standing puzzle with no detectable mutator effect in yeast despite the...
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