The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia - PubMed

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• PMID: 16116424
• DOI: 10.1038/ng1624

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.

Comment in

• Unraveling the Fanconi anemia-DNA repair connection.

  Thompson LH. Thompson LH. Nat Genet. 2005 Sep;37(9):921-2. doi: 10.1038/ng0905-921. Nat Genet. 2005. PMID: 16132046 No abstract available.

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