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. 2005 Sep;37(9):931-3.
doi: 10.1038/ng1624. Epub 2005 Aug 21.

The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia

Orna Levran  1 , Claire Attwooll, Rashida T Henry, Kelly L Milton, Kornelia Neveling, Paula Rio, Sat Dev Batish, Reinhard Kalb, Eunike Velleuer, Sandra Barral, Jurg Ott, John Petrini, Detlev Schindler, Helmut Hanenberg, Arleen D Auerbach
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The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia

Orna Levran et al. Nat Genet. 2005 Sep.

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.

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