Essential Roles for Polymerase θ-Mediated End Joining in the Repair of Chromosome Breaks

Mol Cell. 2016 Aug 18;63(4):662-673. doi: 10.1016/j.molcel.2016.06.020. Epub 2016 Jul 21.

Abstract

DNA polymerase theta (Pol θ)-mediated end joining (TMEJ) has been implicated in the repair of chromosome breaks, but its cellular mechanism and role relative to canonical repair pathways are poorly understood. We show that it accounts for most repairs associated with microhomologies and is made efficient by coupling a microhomology search to removal of non-homologous tails and microhomology-primed synthesis across broken ends. In contrast to non-homologous end joining (NHEJ), TMEJ efficiently repairs end structures expected after aborted homology-directed repair (5' to 3' resected ends) or replication fork collapse. It typically does not compete with canonical repair pathways but, in NHEJ-deficient cells, is engaged more frequently and protects against translocation. Cell viability is also severely impaired upon combined deficiency in Pol θ and a factor that antagonizes end resection (Ku or 53BP1). TMEJ thus helps to sustain cell viability and genome stability by rescuing chromosome break repair when resection is misregulated or NHEJ is compromised.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Animals
  • CRISPR-Cas Systems
  • Cell Line, Transformed
  • Chromosome Breakage*
  • DNA End-Joining Repair*
  • DNA Polymerase theta
  • DNA-Directed DNA Polymerase / deficiency
  • DNA-Directed DNA Polymerase / genetics
  • DNA-Directed DNA Polymerase / metabolism*
  • Genomic Instability*
  • Genotype
  • Ku Autoantigen / genetics
  • Ku Autoantigen / metabolism
  • Mice, Knockout
  • Phenotype
  • Time Factors

Substances

  • DNA-Directed DNA Polymerase
  • Xrcc6 protein, mouse
  • Ku Autoantigen