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The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J.

Levitus M., Waisfisz Q., Godthelp B.C., Vries Y., Hussain S., Wiegant W.W., Elghalbzouri-Maghrani E., Steltenpool J., Rooimans M.A., Pals G., Arwert F., Mathew C.G., Zdzienicka M.Z., Hiom K., De Winter J.P., Joenje H.

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.

Nat. Genet. 37:934-935(2005) [PubMed] [Europe PMC]

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