Isoforms of Base Excision Repair Enzymes Produced by Alternative Splicing

Int J Mol Sci. 2019 Jul 3;20(13):3279. doi: 10.3390/ijms20133279.

Abstract

Transcripts of many enzymes involved in base excision repair (BER) undergo extensive alternative splicing, but functions of the corresponding alternative splice variants remain largely unexplored. In this review, we cover the studies describing the common alternatively spliced isoforms and disease-associated variants of DNA glycosylases, AP-endonuclease 1, and DNA polymerase beta. We also discuss the roles of alternative splicing in the regulation of their expression, catalytic activities, and intracellular transport.

Keywords: DNA glycosylases; DNA polymerase beta; alternative splicing; apurinic/apyrimidinic endonuclease.

Publication types

  • Review

MeSH terms

  • Alternative Splicing*
  • Animals
  • DNA Glycosylases / genetics
  • DNA Glycosylases / metabolism
  • DNA Polymerase beta / genetics
  • DNA Polymerase beta / metabolism
  • DNA Repair Enzymes / genetics
  • DNA Repair Enzymes / metabolism*
  • DNA Repair*
  • DNA-(Apurinic or Apyrimidinic Site) Lyase / genetics
  • DNA-(Apurinic or Apyrimidinic Site) Lyase / metabolism
  • Humans
  • Mice
  • Protein Isoforms*
  • RNA, Messenger / metabolism
  • Rats

Substances

  • Protein Isoforms
  • RNA, Messenger
  • DNA Polymerase beta
  • POLB protein, human
  • DNA Glycosylases
  • DNA-(Apurinic or Apyrimidinic Site) Lyase
  • DNA Repair Enzymes