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

  title={The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J},
  author={Marieke Levitus and Quinten Waisfisz and Barbara C. Godthelp and Yne de Vries and Shobbir Hussain and Wouter W. Wiegant and Elhaam Elghalbzouri-Maghrani and J{\^u}rgen Steltenpool and Martin A. Rooimans and Gerard J Pals and Fr{\'e} Arwert and Christopher G Mathew and Małgorzata Z. Zdzienicka and Kevin J. Hiom and Johan P. de Winter and Hans Joenje},
  journal={Nature Genetics},
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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