The Pol β variant containing exon α is deficient in DNA polymerase but has full dRP lyase activity

Sci Rep. 2019 Jul 9;9(1):9928. doi: 10.1038/s41598-019-45846-0.

Abstract

DNA polymerase (Pol) β is a key enzyme in base excision repair (BER), an important repair system for maintaining genomic integrity. We previously reported the presence of a Pol β transcript containing exon α (105-nucleotide) in normal and colon cancer cell lines. The transcript carried an insertion between exons VI and VII and was predicted to encode a ~42 kDa variant of the wild-type 39 kDa enzyme. However, little is known about the biochemical properties of the exon α-containing Pol β (exon α Pol β) variant. Here, we first obtained evidence indicating expression of the 42 kDa exon α Pol β variant in mouse embryonic fibroblasts. The exon α Pol β variant was then overexpressed in E. coli, purified, and characterized for its biochemical properties. Kinetic studies of exon α Pol β revealed that it is deficient in DNA binding to gapped DNA, has strongly reduced polymerase activity and higher Km for dNTP during gap-filling. On the other hand, the 5'-dRP lyase activity of the exon α Pol β variant is similar to that of wild-type Pol β. These results indicate the exon α Pol β variant is base excision repair deficient, but does conduct 5'-trimming of a dRP group at the gap margin. Understanding the biological implications of this Pol β variant warrants further investigation.

Publication types

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

MeSH terms

  • Animals
  • Cells, Cultured
  • DNA Polymerase beta / chemistry
  • DNA Polymerase beta / metabolism*
  • DNA Repair*
  • DNA Replication*
  • Embryo, Mammalian / enzymology
  • Exons
  • Fibroblasts / enzymology*
  • Humans
  • Kinetics
  • Mice
  • Neoplasms / enzymology*
  • Neoplasms / genetics
  • Neoplasms / pathology
  • Phosphorus-Oxygen Lyases / chemistry
  • Phosphorus-Oxygen Lyases / metabolism*
  • Polymorphism, Genetic*

Substances

  • 5'-deoxyribose phosphate lyase
  • DNA Polymerase beta
  • POLB protein, human
  • Phosphorus-Oxygen Lyases