DNA repair disorders causing malformations.
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.
Hales
Barbara F
BF
Department of Pharmacology and Therapeutics, McGill University, 3655 Promenade Sir William Osler, Montreal, QC, H3G 1Y6, Canada. barbara.hales@mcgill.ca
D000246:Adenosine Diphosphate Ribose / Q000378:metabolism; D000818:Animals; D020137:Base Pair Mismatch / Q000235:genetics; D000013:Congenital Abnormalities / Q000235:genetics*; D004249:DNA Damage / Q000235:genetics; D004260:DNA Repair / Q000235:genetics*; D006801:Humans; D015398:Signal Transduction
D000246:Adenosine Diphosphate Ribose