| Literature DB >> 16116424 |
Orna Levran1, 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.
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.Entities:
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Year: 2005 PMID： 16116424 DOI： 10.1038/ng1624
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330