The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia (original) (raw)

• Brief Communication
• Published: 21 August 2005
• Claire Attwooll2,
• Rashida T Henry1,
• Kelly L Milton1,
• Kornelia Neveling3,
• Paula Rio4 nAff6,
• Sat Dev Batish1,
• Reinhard Kalb3,
• Eunike Velleuer4,
• Sandra Barral5,
• Jurg Ott5,
• John Petrini2,
• Detlev Schindler3 na1,
• Helmut Hanenberg4 na1 &
• …
• Arleen D Auerbach1 na1

Nature Genetics volume 37, pages 931–933 (2005)Cite this article

An Addendum to this article was published on 01 November 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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Figure 1: BRIP1 is defective in Fanconi anemia.

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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

1. Paula Rio
   Present address: CIEMAT/Marcelino Botin Foundation, Madrid, Spain
2. Detlev Schindler, Helmut Hanenberg and Arleen D Auerbach: These authors contributed equally to this work.

Authors and Affiliations

1. 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
2. Memorial Sloan-Kettering Cancer Center, New York, New York, USA
   Claire Attwooll & John Petrini
3. Institute of Human Genetics, University of Wuerzburg, Germany
   Kornelia Neveling, Reinhard Kalb & Detlev Schindler
4. Department of Pediatric Oncology, Hematology and Immunology, Children's Hospital, Heinrich Heine University, Duesseldorf, Germany
   Paula Rio, Eunike Velleuer & Helmut Hanenberg
5. Laboratory of Statistical Genetics, The Rockefeller University, New York, New York, USA
   Sandra Barral & Jurg Ott

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1. Orna Levran
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2. Claire Attwooll
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3. Rashida T Henry
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4. Kelly L Milton
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5. Kornelia Neveling
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6. Paula Rio
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7. Sat Dev Batish
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8. Reinhard Kalb
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9. Eunike Velleuer
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10. Sandra Barral
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11. Jurg Ott
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12. John Petrini
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13. Detlev Schindler
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14. Helmut Hanenberg
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15. Arleen D Auerbach
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Corresponding author

Correspondence toArleen D Auerbach.

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The authors declare no competing financial interests.

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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

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• Received: 23 May 2005
• Accepted: 01 July 2005
• Published: 21 August 2005
• Issue Date: 01 September 2005
• DOI: https://doi.org/10.1038/ng1624