The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia - Nature Genetics
- ️Auerbach, Arleen D
- ️Sun Aug 21 2005
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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Acknowledgements
We thank the affected individuals and their families for providing tissue samples for these studies; the many physicians who referred their patients to the IFAR and helped in sending the tissue samples for their contributions; A. Dawson, B. Chodirker and G. Graham for providing samples from the Inuit families, which were instrumental to the success of the mapping experiments; S. Cantor for the monopool BRIP1 antibody; Myriad Genetic Laboratories for sequencing BRCA2 in IFAR samples; F. Lach, S. Arama, B. Zhang and Y. Flit for technical assistance; and J. Morales, C. Zhao and J. Lowe for advice. This work was supported in part by grants from the US National Institutes of Health (to A.D.A. and to J.P.), by the Joel and Joan Smilow Initiative (J.P.); by Kinderkrebsklinik Duesseldorf e. V. (H.H.); by CIEMAT and the Marcelino Botin Foundation (P.R.); by the Schroeder-Kurth Fund and the Deutsche Fanconi-Anamie-Hilfe (K.N., R.K. and D.S.); and by the Fanconi Anemia Research Fund (H.H.).
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Author notes
Paula Rio
Present address: CIEMAT/Marcelino Botin Foundation, Madrid, Spain
Detlev Schindler, Helmut Hanenberg and Arleen D Auerbach: These authors contributed equally to this work.
Authors and Affiliations
Laboratory for Human Genetics & Hematology, The Rockefeller University, New York, New York, USA
Orna Levran, Rashida T Henry, Kelly L Milton, Sat Dev Batish & Arleen D Auerbach
Memorial Sloan-Kettering Cancer Center, New York, New York, USA
Claire Attwooll & John Petrini
Institute of Human Genetics, University of Wuerzburg, Germany
Kornelia Neveling, Reinhard Kalb & Detlev Schindler
Department of Pediatric Oncology, Hematology and Immunology, Children's Hospital, Heinrich Heine University, Duesseldorf, Germany
Paula Rio, Eunike Velleuer & Helmut Hanenberg
Laboratory of Statistical Genetics, The Rockefeller University, New York, New York, USA
Sandra Barral & Jurg Ott
Authors
- Orna Levran
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- Claire Attwooll
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- Rashida T Henry
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- Kelly L Milton
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- Kornelia Neveling
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- Paula Rio
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- Sat Dev Batish
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- Reinhard Kalb
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- Eunike Velleuer
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- Sandra Barral
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- Jurg Ott
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- John Petrini
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- Detlev Schindler
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- Helmut Hanenberg
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- Arleen D Auerbach
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Correspondence to Arleen D Auerbach.
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Levran, O., Attwooll, C., Henry, R. et al. The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. Nat Genet 37, 931–933 (2005). https://doi.org/10.1038/ng1624
Received: 23 May 2005
Accepted: 01 July 2005
Published: 21 August 2005
Issue Date: 01 September 2005
DOI: https://doi.org/10.1038/ng1624