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- Title
The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J.
- Authors
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
- 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.
- Publication
Nature genetics, 2005, Vol 37, Issue 9, p934
- ISSN
1061-4036
- Publication type
Journal Article
- DOI
10.1038/ng1625