Nijmegen breakage syndrome gene, NBS1, and molecular links to factors for genome stability

Oncogene. 2002 Dec 16;21(58):8967-80. doi: 10.1038/sj.onc.1206136.

Abstract

DNA double-strand breaks represent the most potentially serious damage to a genome and hence, at least two pathways of DNA repair have evolved; namely, homologous recombination repair and non-homologous end joining. Defects in both rejoining processes result in genomic instability including chromosome rearrangements, LOH and gene mutations, which may lead to development of malignancies. Nijmegen breakage syndrome is a recessive genetic disorder, characterized by elevated sensitivity to ionizing radiation that induces double-strand breaks, and high frequency of malignancies. NBS1, the product of the gene underlying the disease, forms a multimeric complex with hMRE11/hRAD50 nuclease and recruits them to the vicinity of sites of DNA damage by direct binding to phosphorylated histone H2AX. The combination of the highly-conserved NBS1 forkhead associated domain and BRCA1 C-terminus domain has a crucial role for recognition of damaged sites. Thereafter, the NBS1-complex proceeds to rejoin double-strand breaks predominantly by homologous recombination repair in vertebrates. This process collaborates with cell-cycle checkpoints at S and G2 phase to facilitate DNA repair. NBS1 is also associated with telomere maintenance and DNA replication. Based on recent knowledge regarding NBS1, we propose here a two-step binding mechanism for damage recognition by repair proteins, and describe the molecular links to factors for genome stability.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Cell Cycle Proteins / chemistry
  • Cell Cycle Proteins / genetics*
  • Cell Cycle Proteins / metabolism*
  • Chromosome Breakage
  • Chromosome Disorders / etiology*
  • Chromosome Disorders / genetics
  • DNA Repair / physiology
  • DNA Repair Enzymes
  • DNA-Binding Proteins / chemistry
  • DNA-Binding Proteins / genetics
  • DNA-Binding Proteins / metabolism
  • Disease Models, Animal
  • Fungal Proteins / chemistry
  • Fungal Proteins / genetics
  • Fungal Proteins / metabolism
  • Genome, Human
  • Histones / genetics
  • Histones / metabolism
  • Humans
  • MRE11 Homologue Protein
  • Mice
  • Neoplasms / genetics
  • Nuclear Proteins / chemistry
  • Nuclear Proteins / genetics*
  • Nuclear Proteins / metabolism*
  • Phosphorylation
  • Recombination, Genetic
  • Saccharomyces cerevisiae Proteins*
  • Telomere / genetics

Substances

  • Cell Cycle Proteins
  • DNA-Binding Proteins
  • Fungal Proteins
  • H2AX protein, human
  • Histones
  • MRE11 protein, human
  • Mre11a protein, mouse
  • NBN protein, human
  • Nijmegen breakage syndrome 1 protein, mouse
  • Nuclear Proteins
  • RAD50 protein, S cerevisiae
  • Saccharomyces cerevisiae Proteins
  • MRE11 Homologue Protein
  • DNA Repair Enzymes