The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J
- Levitus, Marieke
- Waisfisz, Quinten
- Godthelp, Barbara C.
- de Vries, Yne
- Hussain, Shobbir
- Wiegant, Wouter W.
- Elghalbzouri-Maghrani, Elhaam
- Steltenpool, Jûrgen
- Rooimans, Martin A.
- Pals, Gerard
- Arwert, Fré
- Mathew, Christopher G.
- Zdzienicka, Małgorzata Z.
- Hiom, Kevin
- De Winter, Johan P.
- Joenje, Hans
Publication date
September 2005
DOIAbstract
The protein predicted to be defective in individuals with Fanconi anemia complementation group J (FA-J), FANCJ, is a missing component in the Fanconi anemia pathway of genome maintenance. Here we identify pathogenic mutations in eight individuals with FA-J in the gene encoding the DEAH-box DNA helicase BRIP1, also called FANCJ. This finding is compelling evidence that the Fanconi anemia pathway functions through a direct physical interaction with DNA.</p
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