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Research Article

Disruption of Mouse Cenpj, a Regulator of Centriole Biogenesis, Phenocopies Seckel Syndrome

  • Rebecca E. McIntyre,

    Affiliation: Experimental Cancer Genetics, Wellcome Trust Sanger Institute, Hinxton, United Kingdom

    X
  • Pavithra Lakshminarasimhan Chavali,

    Affiliation: Cancer Research UK Cambridge Research Institute, Li Ka Shing Centre and Department of Oncology, University of Cambridge, Cambridge, United Kingdom

    X
  • Ozama Ismail equal contributor,

    equal contributor Contributed equally to this work with: Ozama Ismail, Damian M. Carragher, Gabriela Sanchez-Andrade

    Affiliation: Mouse Genetics Project, Wellcome Trust Sanger Institute, Hinxton, United Kingdom

    X
  • Damian M. Carragher equal contributor,

    equal contributor Contributed equally to this work with: Ozama Ismail, Damian M. Carragher, Gabriela Sanchez-Andrade

    Affiliation: Mouse Genetics Project, Wellcome Trust Sanger Institute, Hinxton, United Kingdom

    X
  • Gabriela Sanchez-Andrade equal contributor,

    equal contributor Contributed equally to this work with: Ozama Ismail, Damian M. Carragher, Gabriela Sanchez-Andrade

    Affiliation: Genetics of Instinctive Behaviour, Wellcome Trust Sanger Institute, Hinxton, United Kingdom

    X
  • Josep V. Forment,

    Affiliation: The Gurdon Institute and Department of Biochemistry, University of Cambridge, Cambridge, United Kingdom

    X
  • Beiyuan Fu,

    Affiliation: Molecular Cytogenetics, Wellcome Trust Sanger Institute, Hinxton, United Kingdom

    X
  • Martin Del Castillo Velasco-Herrera,

    Affiliation: Experimental Cancer Genetics, Wellcome Trust Sanger Institute, Hinxton, United Kingdom

    X
  • Andrew Edwards,

    Affiliation: Wellcome Trust Center for Human Genetics, Oxford, United Kingdom

    X
  • Louise van der Weyden,

    Affiliation: Experimental Cancer Genetics, Wellcome Trust Sanger Institute, Hinxton, United Kingdom

    X
  • Fengtang Yang,

    Affiliation: Molecular Cytogenetics, Wellcome Trust Sanger Institute, Hinxton, United Kingdom

    X
  • Sanger Mouse Genetics Project,

    Affiliation: Mouse Genetics Project, Wellcome Trust Sanger Institute, Hinxton, United Kingdom

    X
  • Ramiro Ramirez-Solis,

    Affiliation: Mouse Genetics Project, Wellcome Trust Sanger Institute, Hinxton, United Kingdom

    X
  • Jeanne Estabel,

    Affiliation: Mouse Genetics Project, Wellcome Trust Sanger Institute, Hinxton, United Kingdom

    X
  • Ferdia A. Gallagher,

    Affiliation: Department of Radiology, Addenbrooke's Hospital, University of Cambridge, Cambridge, United Kingdom

    X
  • Darren W. Logan,

    Affiliation: Genetics of Instinctive Behaviour, Wellcome Trust Sanger Institute, Hinxton, United Kingdom

    X
  • Mark J. Arends,

    Affiliation: Department of Pathology, Addenbrooke's Hospital, University of Cambridge, Cambridge, United Kingdom

    X
  • Stephen H. Tsang,

    Affiliations: Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa, United States of America, Bernard and Shirlee Brown Glaucoma Laboratory, Department of Ophthalmology, College of Physicians and Surgeons, Columbia University, New York, New York, United States of America

    X
  • Vinit B. Mahajan,

    Affiliation: Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa, United States of America

    X
  • Cheryl L. Scudamore,

    Affiliation: Department of Pathology and Infectious Diseases, Royal Veterinary College, London, United Kingdom

    X
  • Jacqueline K. White,

    Affiliation: Mouse Genetics Project, Wellcome Trust Sanger Institute, Hinxton, United Kingdom

    X
  • Stephen P. Jackson,

    Affiliation: The Gurdon Institute and Department of Biochemistry, University of Cambridge, Cambridge, United Kingdom

    X
  • Fanni Gergely,

    Affiliation: Cancer Research UK Cambridge Research Institute, Li Ka Shing Centre and Department of Oncology, University of Cambridge, Cambridge, United Kingdom

    X
  • David J. Adams mail

    da1@sanger.ac.uk

    Affiliation: Experimental Cancer Genetics, Wellcome Trust Sanger Institute, Hinxton, United Kingdom

    X
  • Published: November 15, 2012
  • DOI: 10.1371/journal.pgen.1003022

About the Authors

Rebecca E. McIntyre, Martin Del Castillo Velasco-Herrera, Louise van der Weyden, David J. Adams
Experimental Cancer Genetics, Wellcome Trust Sanger Institute, Hinxton, United Kingdom
Pavithra Lakshminarasimhan Chavali, Fanni Gergely
Cancer Research UK Cambridge Research Institute, Li Ka Shing Centre and Department of Oncology, University of Cambridge, Cambridge, United Kingdom
Ozama Ismail, Damian M. Carragher, Sanger Mouse Genetics Project, Ramiro Ramirez-Solis, Jeanne Estabel, Jacqueline K. White
Mouse Genetics Project, Wellcome Trust Sanger Institute, Hinxton, United Kingdom
Gabriela Sanchez-Andrade, Darren W. Logan
Genetics of Instinctive Behaviour, Wellcome Trust Sanger Institute, Hinxton, United Kingdom
Josep V. Forment, Stephen P. Jackson
The Gurdon Institute and Department of Biochemistry, University of Cambridge, Cambridge, United Kingdom
Beiyuan Fu, Fengtang Yang
Molecular Cytogenetics, Wellcome Trust Sanger Institute, Hinxton, United Kingdom
Andrew Edwards
Wellcome Trust Center for Human Genetics, Oxford, United Kingdom
Ferdia A. Gallagher
Department of Radiology, Addenbrooke's Hospital, University of Cambridge, Cambridge, United Kingdom
Mark J. Arends
Department of Pathology, Addenbrooke's Hospital, University of Cambridge, Cambridge, United Kingdom
Stephen H. Tsang, Vinit B. Mahajan
Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa, United States of America
Stephen H. Tsang
Bernard and Shirlee Brown Glaucoma Laboratory, Department of Ophthalmology, College of Physicians and Surgeons, Columbia University, New York, New York, United States of America
Cheryl L. Scudamore
Department of Pathology and Infectious Diseases, Royal Veterinary College, London, United Kingdom

Corresponding Author

Email: da1@sanger.ac.uk

Competing Interests

The authors have declared that no competing interests exist.

Author Contributions

Conceived and designed the experiments: DJA JKW RR-S REM GS-A OI DMC AE SPJ. Performed the experiments: REM OI DMC GS-A MDCV-H AE VBM PLC JVF BF FY JE LvdW JKW MJA. Analyzed the data: REM OI GS-A MDCV-H AE FAG DWL MJA SHT SMGP CLS FG. Wrote the paper: REM FG SPJ DJA.