The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J
M Levitus, Q Waisfisz, BC Godthelp, Y Vries… - Nature …, 2005 - nature.com
M Levitus, Q Waisfisz, BC Godthelp, Y Vries, S Hussain, WW Wiegant…
Nature genetics, 2005•nature.comThe 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.
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.
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.
nature.com