APLF promotes the assembly and activity of non-homologous end joining protein complexes

EMBO J. 2013 Jan 9;32(1):112-25. doi: 10.1038/emboj.2012.304. Epub 2012 Nov 23.

Abstract

Non-homologous end joining (NHEJ) is critical for the maintenance of genetic integrity and DNA double-strand break (DSB) repair. NHEJ is regulated by a series of interactions between core components of the pathway, including Ku heterodimer, XLF/Cernunnos, and XRCC4/DNA Ligase 4 (Lig4). However, the mechanisms by which these proteins assemble into functional protein-DNA complexes are not fully understood. Here, we show that the von Willebrand (vWA) domain of Ku80 fulfills a critical role in this process by recruiting Aprataxin-and-PNK-Like Factor (APLF) into Ku-DNA complexes. APLF, in turn, functions as a scaffold protein and promotes the recruitment and/or retention of XRCC4-Lig4 and XLF, thereby assembling multi-protein Ku complexes capable of efficient DNA ligation in vitro and in cells. Disruption of the interactions between APLF and either Ku80 or XRCC4-Lig4 disrupts the assembly and activity of Ku complexes, and confers cellular hypersensitivity and reduced rates of chromosomal DSB repair in avian and human cells, respectively. Collectively, these data identify a role for the vWA domain of Ku80 and a molecular mechanism by which DNA ligase proficient complexes are assembled during NHEJ in mammalian cells, and reveal APLF to be a structural component of this critical DSB repair pathway.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Motifs
  • Amino Acid Sequence
  • Animals
  • Antigens, Nuclear / genetics
  • Antigens, Nuclear / metabolism*
  • Cell Line
  • Cell Survival
  • DNA / metabolism*
  • DNA Breaks, Double-Stranded / radiation effects
  • DNA End-Joining Repair
  • DNA Ligase ATP
  • DNA Ligases / genetics
  • DNA Ligases / metabolism*
  • DNA-(Apurinic or Apyrimidinic Site) Lyase / genetics
  • DNA-(Apurinic or Apyrimidinic Site) Lyase / metabolism*
  • DNA-Binding Proteins / genetics
  • DNA-Binding Proteins / metabolism*
  • Gene Knockdown Techniques
  • Humans
  • Ku Autoantigen
  • Models, Molecular
  • Molecular Sequence Data
  • Multiprotein Complexes / genetics
  • Multiprotein Complexes / metabolism
  • Mutation
  • Poly-ADP-Ribose Binding Proteins
  • Protein Binding
  • Protein Multimerization
  • Protein Structure, Tertiary
  • Recombinant Fusion Proteins
  • Sequence Alignment
  • Ultraviolet Rays

Substances

  • Antigens, Nuclear
  • DNA-Binding Proteins
  • LIG4 protein, human
  • Multiprotein Complexes
  • Poly-ADP-Ribose Binding Proteins
  • Recombinant Fusion Proteins
  • XRCC4 protein, human
  • DNA
  • Xrcc6 protein, human
  • Ku Autoantigen
  • APLF protein, human
  • DNA-(Apurinic or Apyrimidinic Site) Lyase
  • DNA Ligases
  • DNA Ligase ATP