The BRCA1-interacting helicase BRIP1 is deficient in Fanconi
anemia by Levran Orna, Attwooll Claire, Henry Rashida T, Milton
Kelly L, Neveling Kornelia, Rio Paula, Batish Sat Dev, Kalb
Reinhard, Velleuer Eunike, Barral Sandra, Ott Jurg, Petrini
John, Schindler Detlev, Hanenberg Helmut, Auerbach Arleen D in
Nature genetics (2005). PubMed   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.  [ hide abstract ]  Discussed In Paper
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