DNA repair disorders causing malformations

Curr Opin Genet Dev. 2005 Jun;15(3):234-40. doi: 10.1016/j.gde.2005.03.002.


DNA damage contributes significantly to the abnormal development or demise of the conceptus. The widely differing phenotypes that result from mutations in DNA repair genes suggest that these genes play critical roles during development, even in the absence of exogenous DNA-damaging agents. Molecules that sense DNA damage and regulate DNA repair, cell cycle checkpoints and apoptosis act as teratogen suppressor genes, protecting the conceptus against insult from DNA damaging teratogens.

Publication types

  • Review

MeSH terms

  • Adenosine Diphosphate Ribose / metabolism
  • Animals
  • Base Pair Mismatch / genetics
  • Congenital Abnormalities / genetics*
  • DNA Damage / genetics
  • DNA Repair / genetics*
  • Humans
  • Signal Transduction


  • Adenosine Diphosphate Ribose