title: The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia.
abstract: Seven Fanconi anemia-associated proteins (FANCA, FANCB, FANCC, FANCE, FANCF, FANCG and FANCL) form a nuclear Fanconi anemia core complex that activates the monoubiquitination of FANCD2, targeting FANCD2 to BRCA1-containing nuclear foci. Cells from individuals with Fanconi anemia of complementation groups D1 and J (FA-D1 and FA-J) have normal FANCD2 ubiquitination. Using genetic mapping, mutation identification and western-blot data, we identify the defective protein in FA-J cells as BRIP1 (also called BACH1), a DNA helicase that is a binding partner of the breast cancer tumor suppressor BRCA1.
authors.affiliation: Laboratory for Human Genetics & Hematology, The Rockefeller University, New York, New York, USA.
authors.forename: Orna
authors.initials: O
authors.lastname: Levran
authors.forename: Claire
authors.initials: C
authors.lastname: Attwooll
authors.forename: Rashida T
authors.initials: RT
authors.lastname: Henry
authors.forename: Kelly L
authors.initials: KL
authors.lastname: Milton
authors.forename: Kornelia
authors.initials: K
authors.lastname: Neveling
authors.forename: Paula
authors.initials: P
authors.lastname: Rio
authors.forename: Sat Dev
authors.initials: SD
authors.lastname: Batish
authors.forename: Reinhard
authors.initials: R
authors.lastname: Kalb
authors.forename: Eunike
authors.initials: E
authors.lastname: Velleuer
authors.forename: Sandra
authors.initials: S
authors.lastname: Barral
authors.forename: Jurg
authors.initials: J
authors.lastname: Ott
authors.forename: John
authors.initials: J
authors.lastname: Petrini
authors.forename: Detlev
authors.initials: D
authors.lastname: Schindler
authors.forename: Helmut
authors.initials: H
authors.lastname: Hanenberg
authors.forename: Arleen D
authors.initials: AD
authors.lastname: Auerbach
mesh_terms: D015153:Blotting, Western; D018797:Cell Cycle Proteins / Q000235:genetics / Q000378:metabolism; D002467:Cell Nucleus; D002886:Chromosomes, Human, Pair 17; D004268:DNA-Binding Proteins / Q000235:genetics* / Q000378:metabolism; D005199:Fanconi Anemia / Q000235:genetics*; D052218:Fanconi Anemia Complementation Group C Protein; D052236:Fanconi Anemia Complementation Group D2 Protein; D051856:Fanconi Anemia Complementation Group Proteins; D005260:Female; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D009154:Mutation / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics / Q000378:metabolism; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D020365:RNA Helicases / Q000235:genetics* / Q000378:metabolism; D025801:Ubiquitin / Q000378:metabolism*
chemical_list: D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; C497651:FANCC protein, human; C499905:FANCD2 protein, human; D052218:Fanconi Anemia Complementation Group C Protein; D052236:Fanconi Anemia Complementation Group D2 Protein; D051856:Fanconi Anemia Complementation Group Proteins; D009687:Nuclear Proteins; D025801:Ubiquitin; C000618935:BRIP1 protein, human; D020365:RNA Helicases