Article
The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia.
Nature genetics - 1 Sept 2005
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
Abstract excerpt
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...
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