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. 2005 Sep;37(9):934-5.
doi: 10.1038/ng1625. Epub 2005 Aug 21.

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

Marieke Levitus  1 , Quinten Waisfisz, Barbara C Godthelp, Yne de Vries, Shobbir Hussain, Wouter W Wiegant, Elhaam Elghalbzouri-Maghrani, Jûrgen Steltenpool, Martin A Rooimans, Gerard Pals, Fré Arwert, Christopher G Mathew, Małgorzata Z Zdzienicka, Kevin Hiom, Johan P De Winter, Hans Joenje
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The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J

Marieke Levitus et al. Nat Genet. 2005 Sep.

Abstract

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.

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