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The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J

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Abstract

The protein predicted to be defective in individuals with Fanconi anemia complementation group J (FA-J), FANCJ, is a missing component in the Fanconi anemia pathway of genome maintenance. Here we identify pathogenic mutations in eight individuals with FA-J in the gene encoding the DEAH-box DNA helicase BRIP1, also called FANCJ. This finding is compelling evidence that the Fanconi anemia pathway functions through a direct physical interaction with DNA.

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Figure 1: Mapping of the candidate region for FANCJ.

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GenBank/EMBL/DDBJ

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Acknowledgements

We thank the families with Fanconi anemia for cooperating in this study; the treating clinicians (S.E. Ball, R. Barr, J. Burn, L. Pitcher, C. Pellegrini, J.M. Hows and J. Bodurtha) for referring their patients; R.A. Weinberg and B. Klein for providing hTert plasmid; C. van Berkel and E.H. Laghmani for technical assistance; and R. Kanaar for the RAD51C construct. This study was financially supported by the FA Research Fund, the Dutch Cancer Society, the Netherlands Organization for Health Research and Development and the Medical Research Council, UK.

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Author notes

  1. Quinten Waisfisz

    Present address: Department of Hematology, VU University Medical Center, Amsterdam, The Netherlands

  2. Marieke Levitus, Quinten Waisfisz and Barbara C Godthelp: These authors contributed equally to this work.

Authors and Affiliations

  1. Department of Clinical Genetics and Human Genetics, VU University Medical Center, Van der Boechorststraat 7, Amsterdam, NL-1081 BT, The Netherlands

    Marieke Levitus, Quinten Waisfisz, Yne de Vries, Jûrgen Steltenpool, Martin A Rooimans, Gerard Pals, Fré Arwert, Johan P De Winter & Hans Joenje

  2. Department of Toxicogenetics, Leiden University Medical Center, Wassenaarseweg 72, Leiden, NL-2333 AL, The Netherlands

    Barbara C Godthelp, Wouter W Wiegant, Elhaam Elghalbzouri-Maghrani & Małgorzata Z Zdzienicka

  3. Division of Genetics and Molecular Medicine, King's College London, Guy's Hospital, London, UK

    Shobbir Hussain & Christopher G Mathew

  4. Department of Molecular Cell Genetics, Nicolaus Copernicus University, Collegium Medicum of L. Rydygier, Bydgoszcz, Poland

    Małgorzata Z Zdzienicka

  5. MRC Laboratory of Molecular Biology, Hills Road, Cambridge, CB2 2QH, UK

    Kevin Hiom

Authors
  1. Marieke Levitus
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  2. Quinten Waisfisz
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  3. Barbara C Godthelp
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  4. Yne de Vries
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  5. Shobbir Hussain
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  6. Wouter W Wiegant
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  7. Elhaam Elghalbzouri-Maghrani
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  8. Jûrgen Steltenpool
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  9. Martin A Rooimans
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  10. Gerard Pals
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  11. Fré Arwert
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  12. Christopher G Mathew
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  13. Małgorzata Z Zdzienicka
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  14. Kevin Hiom
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  15. Johan P De Winter
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  16. Hans Joenje
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Corresponding author

Correspondence to Hans Joenje.

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Competing interests

The authors declare no competing financial interests.

Supplementary information

Supplementary Fig. 1

FA-J patients and families. (PDF 86 kb)

Supplementary Fig. 2

Candidate-regions for FANCJ. (PDF 73 kb)

Supplementary Fig. 3

Genomic structure of BRIP1/FANCJ. (PDF 116 kb)

Supplementary Fig. 4

FANCJ protein expression in FA-J cell lines. (PDF 226 kb)

Supplementary Methods (PDF 123 kb)

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Levitus, M., Waisfisz, Q., Godthelp, B. et al. The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J. Nat Genet 37, 934–935 (2005). https://doi.org/10.1038/ng1625

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  • DOI: https://doi.org/10.1038/ng1625

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