Chromosomal breakage syndromes

Curr Opin Immunol. 1999 Aug;11(4):443-7. doi: 10.1016/S0952-7915(99)80074-0.


Immune deficiency and chromosome fragility are hallmarks of two human diseases, ataxia telangiectasia and Nijmegen breakage syndrome. The genes mutated in these diseases, ATM and NBS1, have been cloned and there has been considerable recent progress on deciphering the function of the protein products implicated in these disorders and how their absence in the disease states relates to the immunodeficiency and chromosome fragility observed. The function of the two protein products, Atm and Nibrin, in effecting DNA repair and cell cycle checkpoints in response to genomic insult provides a framework for understanding the cellular response to DNA damage.

Publication types

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

MeSH terms

  • Ataxia Telangiectasia / genetics*
  • Chromosome Aberrations*
  • DNA Damage*
  • Humans
  • Intellectual Disability / genetics*
  • Microcephaly / genetics*
  • Syndrome