Mutation of the RAD51C gene in a Fanconi anemia–like disorder (original) (raw)

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Acknowledgements

We thank affected individuals and their families for providing samples for this study and for donations to FA research. DNA from matched Pakistani controls was kindly provided by D.A. Khan (Department of Pathology, Army Medical College, Rawalpindi, Pakistan). We thank B. Xia (Department of Radiation Oncology, The Cancer Institute of New Jersey) for providing the PALB2 antibody, A. Sobeck for initial cloning of RAD51C cDNA and R. Kalb and E. Velleuer for constructing an early version of the RAD51C vector and for preliminary analysis. The Rad51c-deficient hamster irs3 cells were a kind gift from J. Thacker (Medical Research Council UK Radiation and Genome Stability Unit), provided by G. Illiakis (Institute of Medical Radiation Biology, University of Duisburg-Essen Medical School). We thank E. Manners for editorial assistance. We are indebted to R. Friedl for flow cytometry and to B. Gottwald and W. Kuss for expert technical assistance. Research in our laboratories was supported by the Medical Research Council UK and the Daniel Ayling Trust (F.V.), the Forschungskommission of the Heinrich Heine University, Düsseldorf (M.F., H.H.), the Deutsche Forschungsgemeinschaft SPP1230 (H.H.), the Bundesministerium für Bildung und Forschung network for congenital bone marrow failure syndromes (H.H., H.S., D.S.), the Deutsche Fanconi Anaemie Hilfe, the Aktionskreis Fanconi Anaemie and the Schroeder Kurth Fund (D.S., H.H.), the Jürgen-Manchot-Stiftung (L.H., H.S.), Cancer Research UK (K.B., N.R.) and European Molecular Biology Organization fellowship ASTF 177-2008 (F.A.).

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Author notes

  1. Fiona Vaz and Helmut Hanenberg: These authors contributed equally to this work.
  2. Detlev Schindler and Christopher G Mathew: These authors contributed equally to the direction of this work.

Authors and Affiliations

  1. Department of Medical and Molecular Genetics, King's College London School of Medicine, Guy's Hospital, London, UK
    Fiona Vaz, David Grimwade, Roland G Roberts & Christopher G Mathew
  2. Department of Pediatric Hematology, Oncology and Clinical Immunology, Children's Hospital, Heinrich Heine University, Düsseldorf, Germany
    Helmut Hanenberg, Constanze Wiek, Verena Erven & Marcel Freund
  3. Department of Pediatrics, Wells Center for Pediatric Research, Riley Hospital, Indiana University School of Medicine, Indianapolis, Indiana, USA
    Helmut Hanenberg
  4. Department of Human Genetics, University of Würzburg, Würzburg, Germany
    Beatrice Schuster, Kornelia Neveling, Daniela Endt & Detlev Schindler
  5. Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK
    Karen Barker & Nazneen Rahman
  6. Cytogenetics Laboratory, Genetics Centre, Guy's and St. Thomas' NHS Foundation Trust, Guy's Hospital, London, UK
    Ian Kesterton
  7. Randall Division of Cell and Molecular Biophysics, King's College London, New Hunt's House, Guy's Hospital, London, UK
    Flavia Autore & Franca Fraternali
  8. Institute of Virology, Heinrich Heine University, Düsseldorf, Germany
    Linda Hartmann & Heiner Schaal
  9. Department of Clinical Genetics, Guy's and St. Thomas' NHS Foundation Trust, Guy's Hospital, London, UK
    Shehla Mohammed

Authors

  1. Fiona Vaz
  2. Helmut Hanenberg
  3. Beatrice Schuster
  4. Karen Barker
  5. Constanze Wiek
  6. Verena Erven
  7. Kornelia Neveling
  8. Daniela Endt
  9. Ian Kesterton
  10. Flavia Autore
  11. Franca Fraternali
  12. Marcel Freund
  13. Linda Hartmann
  14. David Grimwade
  15. Roland G Roberts
  16. Heiner Schaal
  17. Shehla Mohammed
  18. Nazneen Rahman
  19. Detlev Schindler
  20. Christopher G Mathew

Contributions

The study was designed by C.G.M., D.S. and H.H. Phenotypic assessment, sample collection and characterization of FA subgroups were performed by S.M., H.H., D.S., F.V., C.G.M., I.K., C.W., B.S., V.E., K.N. and D.E. Genetic mapping, mutation analysis and functional studies were carried out by F.V., K.B., C.W., B.S., V.E., K.N., D.E., M.F. and L.H. under the supervision of H.H., H.S., D.G., D.S., N.R. and C.G.M. Bioinformatic and structural studies were done by R.G.R., F.A. and F.F. The manuscript was written by C.G.M., D.S. and H.H., with help from the other authors.

Corresponding authors

Correspondence toHelmut Hanenberg, Detlev Schindler or Christopher G Mathew.

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Competing interests

The authors declare no competing financial interests.

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Vaz, F., Hanenberg, H., Schuster, B. et al. Mutation of the RAD51C gene in a Fanconi anemia–like disorder.Nat Genet 42, 406–409 (2010). https://doi.org/10.1038/ng.570

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