Molecular pathogenesis of Fanconi anemia.
Fanconi anemia (FA) is a rare inherited disorder characterized clinically by aplastic anemia, developmental defects, and a susceptibility to cancer. Eleven complementation groups have been identified (FA-A, -B, -C, -D1, -D2, -E, -F, -G, -I, -J, and -L), and the genes responsible for 9 groups (FANCA, B, C, D1, D2, E, F, G, and L) have been cloned. The proteins involved in FA act coordinately in the cellular response to DNA cross-links in a pathway that has been shown to interact physically or functionally with a variety of other proteins involved in DNA repair or cell cycle control, notably BRCA1, Rad51,ATM,ATR, and Nbs1. Considerable advances in the identification and description of proteins involved in FA have been recorded, but the precise biochemical function of the FA pathway remains elusive. As research continues to improve our understanding of FA, insight will be gained into what is a pivotal process in cancer biology.
Collins
Natalie
N
Department of Microbiology, University of Virginia Health System, University of Virginia, Charlottesville, Virginia 22908, USA.
Kupfer
Gary M
GM
D002453:Cell Cycle / Q000235:genetics*; D018797:Cell Cycle Proteins / Q000235:genetics / Q000378:metabolism; D002877:Chromosomes, Human / Q000235:genetics* / Q000378:metabolism; D004260:DNA Repair / Q000235:genetics*; D005199:Fanconi Anemia / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D051856:Fanconi Anemia Complementation Group Proteins / Q000235:genetics* / Q000378:metabolism; D006801:Humans
D018797:Cell Cycle Proteins; D051856:Fanconi Anemia Complementation Group Proteins