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

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.

• Authors: Marieke Levitus, 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
• Journal: Nature genetics (Nat Genet) Vol. 37 Issue 9 Pg. 934-5 (Sep 2005) ISSN: 1061-4036 [Print] United States
• PMID: 16116423 (Publication Type: Journal Article)

Chemical References

• DNA-Binding Proteins
• Fanconi Anemia Complementation Group Proteins
• BRIP1 protein, human
• RNA Helicases

Topics

• Chromosomes, Human, Pair 17
• DNA-Binding Proteins (deficiency, genetics)
• Fanconi Anemia (genetics)
• Fanconi Anemia Complementation Group Proteins
• Genetic Complementation Test
• Humans
• Microsatellite Repeats
• Molecular Sequence Data
• Mutation (genetics)
• RNA Helicases (deficiency, genetics)
• Sequence Deletion