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.
Publication types
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Blotting, Western
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Cell Cycle Proteins / genetics
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Cell Cycle Proteins / metabolism
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Cell Nucleus
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Chromosomes, Human, Pair 17*
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DNA-Binding Proteins / genetics*
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DNA-Binding Proteins / metabolism
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Fanconi Anemia / genetics*
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Fanconi Anemia Complementation Group C Protein
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Fanconi Anemia Complementation Group D2 Protein
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Fanconi Anemia Complementation Group Proteins
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Female
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Humans
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Male
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Microsatellite Repeats
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Mutation / genetics*
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Nuclear Proteins / genetics
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Nuclear Proteins / metabolism
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Pedigree
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Polymorphism, Single Nucleotide*
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RNA Helicases / genetics*
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RNA Helicases / metabolism
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Ubiquitin / metabolism*
Substances
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Cell Cycle Proteins
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DNA-Binding Proteins
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FANCC protein, human
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FANCD2 protein, human
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Fanconi Anemia Complementation Group C Protein
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Fanconi Anemia Complementation Group D2 Protein
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Fanconi Anemia Complementation Group Proteins
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Nuclear Proteins
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Ubiquitin
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BRIP1 protein, human
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RNA Helicases