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).

[PMID: 16116424] 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.

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