Article
Inactivating Mutations in Exonuclease and Polymerase Domains in DNA Polymerase Delta Alter Sensitivities to Inhibitors of dNTP Synthesis.
DNA and cell biology - 1 Jan 2020
Zhang Jiaming, Hou Deyin, Annis James, Sargolzaeiaval Forough, Appelbaum Julia, Takahashi Eishi, Martin George M, Herr Alan, Oshima Junko
Abstract excerpt
POLD1 encodes the catalytic subunit of DNA polymerase delta (Polδ), the major lagging strand polymerase, which also participates in DNA repair. Mutations affecting the exonuclease domain increase the risk of various cancers, while mutations that change the polymerase active site cause a progeroid syndrome called mandibular hypoplasia, deafness, progeroid features, and lipodystrophy (MDPL) syndrome. We generated a...
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