Active site mutations in mammalian DNA polymerase delta alter accuracy and replication fork progression

J Biol Chem. 2010 Oct 15;285(42):32264-72. doi: 10.1074/jbc.M110.147017. Epub 2010 Jul 13.

Abstract

DNA polymerase δ (pol δ) is one of the two main replicative polymerases in eukaryotes; it synthesizes the lagging DNA strand and also functions in DNA repair. In previous work, we demonstrated that heterozygous expression of the pol δ L604G variant in mice results in normal life span and no apparent phenotype, whereas a different substitution at the same position, L604K, is associated with shortened life span and accelerated carcinogenesis. Here, we report in vitro analysis of the homologous mutations at position Leu-606 in human pol δ. Four-subunit human pol δ variants that harbor or lack 3' → 5'-exonucleolytic proofreading activity were purified from Escherichia coli. The pol δ L606G and L606K holoenzymes retain catalytic activity and processivity similar to that of wild type pol δ. pol δ L606G is highly error prone, incorporating single noncomplementary nucleotides at a high frequency during DNA synthesis, whereas pol δ L606K is extremely accurate, with a higher fidelity of single nucleotide incorporation by the active site than that of wild type pol δ. However, pol δ L606K is impaired in the bypass of DNA adducts, and the homologous variant in mouse embryonic fibroblasts results in a decreased rate of replication fork progression in vivo. These results indicate that different substitutions at a single active site residue in a eukaryotic polymerase can either increase or decrease the accuracy of synthesis relative to wild type and suggest that enhanced fidelity of base selection by a polymerase active site can result in impaired lesion bypass and delayed replication fork progression.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Catalytic Domain / genetics*
  • DNA Polymerase III* / chemistry
  • DNA Polymerase III* / genetics
  • DNA Polymerase III* / metabolism
  • DNA Replication*
  • Humans
  • Mice
  • Molecular Sequence Data
  • Mutation*
  • Proliferating Cell Nuclear Antigen / metabolism
  • Protein Isoforms* / chemistry
  • Protein Isoforms* / genetics
  • Protein Isoforms* / metabolism

Substances

  • Proliferating Cell Nuclear Antigen
  • Protein Isoforms
  • DNA Polymerase III