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Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy.
Martin, Carol-Anne; Ahmad, Ilyas; Klingseisen, Anna; Hussain, Muhammad Sajid; Bicknell, Louise S; Leitch, Andrea; Nürnberg, Gudrun; Toliat, Mohammad Reza; Murray, Jennie E; Hunt, David; Khan, Fawad; Ali, Zafar; Tinschert, Sigrid; Ding, James; Keith, Charlotte; Harley, Margaret E; Heyn, Patricia; Müller, Rolf; Hoffmann, Ingrid; Cormier-Daire, Valérie; Dollfus, Hélène; Dupuis, Lucie; Bashamboo, Anu; McElreavey, Kenneth; Kariminejad, Ariana; Mendoza-Londono, Roberto; Moore, Anthony T; Saggar, Anand; Schlechter, Catie; Weleber, Richard; Thiele, Holger; Altmüller, Janine; Höhne, Wolfgang; Hurles, Matthew E; Noegel, Angelika Anna; Baig, Shahid Mahmood; Nürnberg, Peter; Jackson, Andrew P.
Afiliación
  • Martin CA; Medical Research Council (MRC) Human Genetics Unit, Institute of Genetics and Molecular Medicine (IGMM), University of Edinburgh, Edinburgh, UK.
  • Ahmad I; Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.
  • Klingseisen A; Institute of Biochemistry I, Medical Faculty, University of Cologne, Cologne, Germany.
  • Hussain MS; Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan.
  • Bicknell LS; Medical Research Council (MRC) Human Genetics Unit, Institute of Genetics and Molecular Medicine (IGMM), University of Edinburgh, Edinburgh, UK.
  • Leitch A; Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.
  • Nürnberg G; Institute of Biochemistry I, Medical Faculty, University of Cologne, Cologne, Germany.
  • Toliat MR; Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan.
  • Murray JE; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany.
  • Hunt D; Medical Research Council (MRC) Human Genetics Unit, Institute of Genetics and Molecular Medicine (IGMM), University of Edinburgh, Edinburgh, UK.
  • Khan F; Medical Research Council (MRC) Human Genetics Unit, Institute of Genetics and Molecular Medicine (IGMM), University of Edinburgh, Edinburgh, UK.
  • Ali Z; Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.
  • Tinschert S; Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.
  • Ding J; Medical Research Council (MRC) Human Genetics Unit, Institute of Genetics and Molecular Medicine (IGMM), University of Edinburgh, Edinburgh, UK.
  • Keith C; Medical Research Council (MRC) Human Genetics Unit, Institute of Genetics and Molecular Medicine (IGMM), University of Edinburgh, Edinburgh, UK.
  • Harley ME; Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan.
  • Heyn P; Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan.
  • Müller R; Division of Human Genetics, Innsbruck Medical University, Innsbruck, Austria.
  • Hoffmann I; Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
  • Cormier-Daire V; Medical Research Council (MRC) Human Genetics Unit, Institute of Genetics and Molecular Medicine (IGMM), University of Edinburgh, Edinburgh, UK.
  • Dollfus H; Cytogenetics Laboratory, South East of Scotland Genetics Service, Western General Hospital, Edinburgh, UK.
  • Dupuis L; Medical Research Council (MRC) Human Genetics Unit, Institute of Genetics and Molecular Medicine (IGMM), University of Edinburgh, Edinburgh, UK.
  • Bashamboo A; Medical Research Council (MRC) Human Genetics Unit, Institute of Genetics and Molecular Medicine (IGMM), University of Edinburgh, Edinburgh, UK.
  • McElreavey K; Institute of Biochemistry I, Medical Faculty, University of Cologne, Cologne, Germany.
  • Kariminejad A; Cell Cycle Control and Carcinogenesis, German Cancer Research Center (DKFZ), Heidelberg, Germany.
  • Mendoza-Londono R; Department of Genetics, INSERM U781, Université Paris Descartes, Sorbonne Paris Cité, Hopital Necker, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
  • Moore AT; CARGO and IGMA Hôpitaux Universitaires de Strasbourg, INSERM U1112, Université de Strasbourg, Strasbourg, France.
  • Saggar A; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.
  • Schlechter C; Unit of Human Developmental Genetics, Institut Pasteur, Paris, France.
  • Weleber R; Unit of Human Developmental Genetics, Institut Pasteur, Paris, France.
  • Thiele H; Najmabadi Pathology and Genetics Center, Tehran, Iran.
  • Altmüller J; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.
  • Höhne W; University College London (UCL) Institute of Ophthalmology, London, UK.
  • Hurles ME; Moorfields Eye Hospital, London, UK.
  • Noegel AA; Southwest Thames Regional Genetics Service, St. George's Hospital Medical School, London, UK.
  • Baig SM; Casey Eye Institute, Oregon Health and Science University, Portland, Oregon, USA.
  • Nürnberg P; Casey Eye Institute, Oregon Health and Science University, Portland, Oregon, USA.
  • Jackson AP; Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.
Nat Genet ; 46(12): 1283-1292, 2014 Dec.
Article en En | MEDLINE | ID: mdl-25344692
Centrioles are essential for ciliogenesis. However, mutations in centriole biogenesis genes have been reported in primary microcephaly and Seckel syndrome, disorders without the hallmark clinical features of ciliopathies. Here we identify mutations in the genes encoding PLK4 kinase, a master regulator of centriole duplication, and its substrate TUBGCP6 in individuals with microcephalic primordial dwarfism and additional congenital anomalies, including retinopathy, thereby extending the human phenotypic spectrum associated with centriole dysfunction. Furthermore, we establish that different levels of impaired PLK4 activity result in growth and cilia phenotypes, providing a mechanism by which microcephaly disorders can occur with or without ciliopathic features.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Degeneración Retiniana / Proteínas Serina-Treonina Quinasas / Trastornos del Crecimiento / Microcefalia / Mutación Límite: Adolescent / Adult / Animals / Child / Child, preschool / Female / Humans / Infant / Male País/Región como asunto: Asia Idioma: En Revista: Nat Genet Asunto de la revista: GENETICA MEDICA Año: 2014 Tipo del documento: Article Pais de publicación: Estados Unidos
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Degeneración Retiniana / Proteínas Serina-Treonina Quinasas / Trastornos del Crecimiento / Microcefalia / Mutación Límite: Adolescent / Adult / Animals / Child / Child, preschool / Female / Humans / Infant / Male País/Región como asunto: Asia Idioma: En Revista: Nat Genet Asunto de la revista: GENETICA MEDICA Año: 2014 Tipo del documento: Article Pais de publicación: Estados Unidos