Interaction of FANCD2 and NBS1 in the DNA damage response

Nat Cell Biol. 2002 Dec;4(12):913-20. doi: 10.1038/ncb879.

Abstract

Fanconi anaemia (FA) and Nijmegen breakage syndrome (NBS) are autosomal recessive chromosome instability syndromes with distinct clinical phenotypes. Cells from individuals affected with FA are hypersensitive to mitomycin C (MMC), and cells from those with NBS are hypersensitive to ionizing radiation. Here we report that both NBS cell lines and individuals with NBS are hypersensitive to MMC, indicating that there may be functional linkage between FA and NBS. In wild-type cells, MMC activates the colocalization of the FA subtype D2 protein (FANCD2) and NBS1 protein in subnuclear foci. Ionizing radiation activates the ataxia telangiectasia kinase (ATM)-dependent and NBS1-dependent phosphorylation of FANCD2, resulting in an S-phase checkpoint. NBS1 and FANCD2 therefore cooperate in two distinct cellular functions, one involved in the DNA crosslink response and one involved in the S-phase checkpoint response.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Antibiotics, Antineoplastic / pharmacology
  • Cell Cycle Proteins / genetics*
  • Cell Line, Transformed
  • Chromosome Breakage
  • Cross-Linking Reagents / pharmacology
  • DNA Damage / drug effects
  • DNA Damage / genetics*
  • DNA Damage / radiation effects
  • DNA Repair
  • Drug Resistance / genetics
  • Fanconi Anemia / genetics
  • Fanconi Anemia Complementation Group D2 Protein
  • Humans
  • Mitomycin / pharmacology
  • Nuclear Proteins / genetics*
  • S Phase / genetics
  • Ultraviolet Rays

Substances

  • Antibiotics, Antineoplastic
  • Cell Cycle Proteins
  • Cross-Linking Reagents
  • FANCD2 protein, human
  • Fanconi Anemia Complementation Group D2 Protein
  • NBN protein, human
  • Nuclear Proteins
  • Mitomycin