Cited by 370DNA Repair MechanismsBlood disorders and treatmentsBRCA gene mutations in cancer

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The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia

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·2005·Nature Genetics

DOI 10.1038/ng1624

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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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Authors: Levran, O., Attwooll, C., Henry, R. T., Milton, K. L., Neveling, K., Rio, P., Batish, S. D., Kalb, R., Velleuer, E., Barral, S., Ott, J., Petrini, J., Schindler, D., Hanenberg, H., & Auerbach, A. D.
Affiliations: Rockefeller University (US)
Memorial Sloan Kettering Cancer Center (US)
University of Würzburg (DE)
Heinrich Heine University Düsseldorf (DE)
Corresponding author: Auerbach, Arleen D
ORCID: Levran, Orna
Neveling, Kornelia
Kalb, Reinhard
Velleuer, Eunike
Petrini, John
Schindler, Detlev
Hanenberg, Helmut
Auerbach, Arleen D
Venue: Nature Genetics
Publisher: Springer Science and Business Media LLC
Published: 2005-08-21
Volume: 37
Issue: 9
Pages: 931-933
ISSN: 1061-4036 (ISSN-L)
1546-1718
DOI: 10.1038/ng1624
OpenAlex: W2040881136
Cited by: 370
References: 12
Citations by year: 2026: 4 · 2025: 3 · 2024: 10 · 2023: 14 · 2022: 9 · 2021: 15 · 2020: 8 · 2019: 12 · 2018: 9 · 2017: 9 · 2016: 14 · 2015: 16 · 2014: 19 · 2013: 14 · 2012: 21
FWCI: 14.68
Type: journal article
Language: en
Update notices: erratum (2005-11-01)
Open access: closed
Licence: www.springer.com/tdm (tdm)
www.springer.com/tdm (vor)
Locations: Nature Genetics (publishedVersion)
PubMed (publishedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
Health Sciences › Medicine › Hematology › Blood disorders and treatments
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
Keywords: BRIP1, BACH1, Fanconi anemia, FANCL, FANCD2 monoubiquitination, BRCA1, DNA helicase, DNA repair, gene mapping
MeSH terms: Cell Nucleus, Chromosomes, Human, Pair 17, DNA-Binding Proteins, Fanconi Anemia, Female, Humans, Male, Mutation, Nuclear Proteins, Pedigree, Blotting, Western, Cell Cycle Proteins, Microsatellite Repeats, RNA Helicases, Polymorphism, Single Nucleotide, Ubiquitin, Fanconi Anemia Complementation Group Proteins, Fanconi Anemia Complementation Group C Protein, Fanconi Anemia Complementation Group D2 Protein

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The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia

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