| Literature DB >> 16116423 |
Marieke Levitus1, 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.
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.Entities:
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Year: 2005 PMID： 16116423 DOI： 10.1038/ng1625
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330