Science · 2010 · 231 citations · 15 references
Life SciencesGeneticsMolecular GeneticsDna RepairMedical GeneticsNeoplasiaDna Damage SignalingDouble-strand Break RepairError-free Dna Repair
Fanconi anemia arises from mutations in genes that repair DNA cross‑link damage, leading to double‑strand breaks that can be fixed either error‑free or via an error‑prone pathway. The FA pathway drives repair through the error‑free pathway, and the FA FANCC gene genetically interacts with Ku70, inhibiting its action and promoting the error‑free pathway. Pace et al.
Righting Repair Pathways The genetic disease Fanconi anemia (FA) results from mutations in a series of genes involved in a DNA repair pathway that helps process the damage caused by erroneous chemical cross-links between the two strands of the DNA double helix. The double-stranded breaks in DNA that arise from such cross-links can be repaired in an error-free manner or through an error-prone repair pathway. Pace et al. (p. 219 , published online 10 June) show that the FA pathway can drive repair through the error-free pathway. The FA FANCC gene shows a genetic interaction with a component of the error-prone repair pathway, Ku70, inhibiting its action and thereby promoting the error-free pathway.
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Interaction of the Fanconi Anemia Proteins and BRCA1 in a Common Pathway
Irene García-Higuera, Toshiyasu Taniguchi, Shridar Ganesan et al. · Molecular Cell · 2001 · 1.2K citations · Full text
Biallelic Inactivation of <i>BRCA2</i> in Fanconi Anemia
Niall G. Howlett, Toshiyasu Taniguchi, Susan B. Olson et al. · Science · 2002 · 1.1K citations