An interaction network in the polymerase active site is a prerequisite for Watson-Crick base pairing in Pol γ

Sci Adv. 2024 May 24;10(21):eadl3214. doi: 10.1126/sciadv.adl3214. Epub 2024 May 24.

Abstract

The replication accuracy of DNA polymerase gamma (Pol γ) is essential for mitochondrial genome integrity. Mutation of human Pol γ arginine-853 has been linked to neurological diseases. Although not a catalytic residue, Pol γ arginine-853 mutants are void of polymerase activity. To identify the structural basis for the disease, we determined a crystal structure of the Pol γ mutant ternary complex with correct incoming nucleotide 2'-deoxycytidine 5'-triphosphate (dCTP). Opposite to the wild type that undergoes open-to-closed conformational changes when bound to a correct nucleotide that is essential for forming a catalytically competent active site, the mutant complex failed to undergo the conformational change, and the dCTP did not base pair with its Watson-Crick complementary templating residue. Our studies revealed that arginine-853 coordinates an interaction network that aligns the 3'-end of primer and dCTP with the catalytic residues. Disruption of the network precludes the formation of Watson-Crick base pairing and closing of the active site, resulting in an inactive polymerase.

MeSH terms

  • Base Pairing*
  • Catalytic Domain*
  • Crystallography, X-Ray
  • DNA Polymerase gamma* / chemistry
  • DNA Polymerase gamma* / genetics
  • DNA Polymerase gamma* / metabolism
  • Deoxycytosine Nucleotides / chemistry
  • Deoxycytosine Nucleotides / metabolism
  • Humans
  • Models, Molecular
  • Mutation
  • Protein Binding

Substances

  • DNA Polymerase gamma
  • Deoxycytosine Nucleotides
  • 2'-deoxycytidine 5'-triphosphate