Nijmegen breakage syndrome: consequences of defective DNA double strand break repair

Bioessays. 1999 Aug;21(8):649-56. doi: 10.1002/(SICI)1521-1878(199908)21:8<649::AID-BIES4>3.0.CO;2-O.

Abstract

The autosomal recessive genetic disorder, Nijmegen Breakage Syndrome, is characterised by an excessively high risk for the development of lymphatic tumours and an extreme sensitivity towards ionising radiation. The most likely explanation for these characteristics, a deficiency in the repair of DNA lesions, has been greatly substantiated by the recent cloning of the gene mutated in Nijmegen Breakage Syndrome patients and the analysis of its protein product, nibrin. The direct involvement of this protein in the processing of DNA double strand breaks caused by ionising radiation and those also necessary for normal DNA metabolism can be correlated with many of the cellular and clinical aspects of the disease, including the cancer predisposition of patients and their heterozygous relatives.

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Cell Cycle Proteins / genetics
  • DNA Damage*
  • DNA Repair / genetics*
  • Female
  • Genes, Recessive
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation
  • Nuclear Proteins*
  • Phenotype
  • Syndrome

Substances

  • Cell Cycle Proteins
  • NBN protein, human
  • Nuclear Proteins