CEP152 is a genome maintenance protein disrupted in Seckel syndrome (original) (raw)

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NCBI Reference Sequence

References

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Acknowledgements

We thank all family members who participated in this study, E. Milz, A. Alver and A. Coffey for excellent technical assistance, F. Kokocinski and A. Palotie for experimental design, and C. Kubisch, B. Wirth and K. Boss for critical reading the manuscript. The CINP antibody was a kind gift from D. Cortez (Nashville, Tennessee, USA). This work was supported by the German Federal Ministry of Education and Research (BMBF) by grant numbers 01GM0880 (SKELNET) and 01GM0801 (E-RARE network CRANIRARE) to B.W., the Karadeniz Technical University Research Fund by grant numbers 2008.114.001.02 and 2008.114.001.12 to E.K., the Medical Research Council and Lister Institute to A.P.J. and by the Wellcome Trust, grant 077014/Z/05/Z.

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Author notes

  1. Ersan Kalay and Gökhan Yigit: These authors contributed equally to this work.

Authors and Affiliations

  1. Department of Medical Biology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey
    Ersan Kalay, Bayram Toraman & Ahmet Karagüzel
  2. Institute of Human Genetics, University of Cologne, Cologne, Germany
    Gökhan Yigit, Esther Pohl, Yun Li & Bernd Wollnik
  3. Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany
    Gökhan Yigit, Esther Pohl, Yun Li, Gudrun Nürnberg, Ingelore Baessmann, Peter Nürnberg & Bernd Wollnik
  4. Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany
    Gökhan Yigit, Gudrun Nürnberg, Peter Nürnberg & Bernd Wollnik
  5. Department of Pediatrics, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey
    Yakup Aslan
  6. Chromosome Biology Group, Medical Research Council Clinical Sciences Centre, Imperial College School of Medicine, Hammersmith Hospital, London, UK
    Karen E Brown
  7. Medical Research Council (MRC) Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh, UK
    Louise S Bicknell, Martin S Taylor & Andrew P Jackson
  8. Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey
    Hülya Kayserili
  9. Department of Pediatric Genetics, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey
    Beyhan Tüysüz
  10. Cologne Center for Genomics, University of Cologne, Cologne, Germany
    Gudrun Nürnberg, Ingelore Baessmann & Peter Nürnberg
  11. Department of Women and Child Health, Hospital for Children and Adolescents, University of Leipzig, Leipzig, Germany
    Wieland Kiess
  12. Preclinical Target Development and Genomics and Proteomics Core Facilities, German Cancer Research Center, Heidelberg, Germany
    Manfred Koegl
  13. Department of Clinical Microbiology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey
    Kurtulus Buruk
  14. Department of Oral Diagnosis and Radiology, Faculty of Dentistry, Karadeniz Technical University, Trabzon, Turkey
    Saadettin Kayipmaz
  15. Department of Radiology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey
    Sibel Kul
  16. Department of Medical Genetics, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey
    Mevlit Ikbal
  17. Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK
    Daniel J Turner, Jan Aerts, Carol Scott & Matthew Hurles
  18. Division of Human Genetics, National Health Laboratory Service and The University of Witwatersrand, Johannesburg, South Africa
    Karen Milstein
  19. Centre de Référence pour les Affections Rares Génétique Ophtalmologique, Service de Génétique Médicale, Hôpitaux Universitaires de Strasbourg, Strasbourg, France
    Helene Dollfus
  20. Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany
    Dagmar Wieczorek
  21. Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Han G Brunner
  22. Institute of Medical Genetics, Zürich University, Zürich, Switzerland
    Anita Rauch

Authors

  1. Ersan Kalay
  2. Gökhan Yigit
  3. Yakup Aslan
  4. Karen E Brown
  5. Esther Pohl
  6. Louise S Bicknell
  7. Hülya Kayserili
  8. Yun Li
  9. Beyhan Tüysüz
  10. Gudrun Nürnberg
  11. Wieland Kiess
  12. Manfred Koegl
  13. Ingelore Baessmann
  14. Kurtulus Buruk
  15. Bayram Toraman
  16. Saadettin Kayipmaz
  17. Sibel Kul
  18. Mevlit Ikbal
  19. Daniel J Turner
  20. Martin S Taylor
  21. Jan Aerts
  22. Carol Scott
  23. Karen Milstein
  24. Helene Dollfus
  25. Dagmar Wieczorek
  26. Han G Brunner
  27. Matthew Hurles
  28. Andrew P Jackson
  29. Anita Rauch
  30. Peter Nürnberg
  31. Ahmet Karagüzel
  32. Bernd Wollnik

Contributions

The project was conceived and the experiments were planned by E.K. and B.W. We would like to note that Y.A. and K.E.B. had a comparable contribution to this study. The review of phenotypes and the sample collection were performed by B.W., E.K., Y.A., A.P.J., H.K., B. Tüysüz, W.K., B. Toraman., S. Kayipmaz, S. Kul, M.I., K.M., H.D., D.W., H.G.B. and A.R. Experiments were performed by E.K., G.Y., K.E.B., E.P., L.S.B., Y.L., M.K., I.B., K.B., D.J.T. and C.S. Data analysis was performed by B.W., E.K., G.N., P.N., A.K., J.A., M.S.T., M.H. and A.P.J. The manuscript was written by B.W., G.Y., E.K. and K.E.B. All aspects of the study were supervised by B.W.

Corresponding authors

Correspondence toErsan Kalay or Bernd Wollnik.

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Competing interests

The authors declare no competing financial interests.

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Kalay, E., Yigit, G., Aslan, Y. et al. CEP152 is a genome maintenance protein disrupted in Seckel syndrome.Nat Genet 43, 23–26 (2011). https://doi.org/10.1038/ng.725

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