title: 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.affiliation: Department of Clinical Genetics and Human Genetics, VU University Medical Center, Van der Boechorststraat 7, NL-1081 BT Amsterdam, The Netherlands.
authors.forename: Marieke
authors.initials: M
authors.lastname: Levitus
authors.forename: Quinten
authors.initials: Q
authors.lastname: Waisfisz
authors.forename: Barbara C
authors.initials: BC
authors.lastname: Godthelp
authors.forename: Yne
authors.initials: Y
authors.lastname: de Vries
authors.forename: Shobbir
authors.initials: S
authors.lastname: Hussain
authors.forename: Wouter W
authors.initials: WW
authors.lastname: Wiegant
authors.forename: Elhaam
authors.initials: E
authors.lastname: Elghalbzouri-Maghrani
authors.forename: Jûrgen
authors.initials: J
authors.lastname: Steltenpool
authors.forename: Martin A
authors.initials: MA
authors.lastname: Rooimans
authors.forename: Gerard
authors.initials: G
authors.lastname: Pals
authors.forename: Fré
authors.initials: F
authors.lastname: Arwert
authors.forename: Christopher G
authors.initials: CG
authors.lastname: Mathew
authors.forename: Małgorzata Z
authors.initials: MZ
authors.lastname: Zdzienicka
authors.forename: Kevin
authors.initials: K
authors.lastname: Hiom
authors.forename: Johan P
authors.initials: JP
authors.lastname: De Winter
authors.forename: Hans
authors.initials: H
authors.lastname: Joenje
mesh_terms: D002886:Chromosomes, Human, Pair 17; D004268:DNA-Binding Proteins / Q000172:deficiency* / Q000235:genetics*; D005199:Fanconi Anemia / Q000235:genetics*; D051856:Fanconi Anemia Complementation Group Proteins; D005816:Genetic Complementation Test; D006801:Humans; D018895:Microsatellite Repeats; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D020365:RNA Helicases / Q000172:deficiency* / Q000235:genetics*; D017384:Sequence Deletion
chemical_list: D004268:DNA-Binding Proteins; D051856:Fanconi Anemia Complementation Group Proteins; C000618935:BRIP1 protein, human; D020365:RNA Helicases