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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation
Nature Genetics, Volume 46, No. 8, Year 2014
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Description
Centrioles are microtubule-based, barrel-shaped structures that initiate the assembly of centrosomes and cilia1,2. How centriole length is precisely set remains elusive. The microcephaly protein CPAP (also known as MCPH6) promotes procentriole growth3-5, whereas the oral-facial-digital (OFD) syndrome protein OFD1 represses centriole elongation6,7. Here we uncover a new subtype of OFD with severe microcephaly and cerebral malformations and identify distinct mutations in two affected families in the evolutionarily conserved C2CD3 gene. Concordant with the clinical overlap, C2CD3 colocalizes with OFD1 at the distal end of centrioles, and C2CD3 physically associates with OFD1. However, whereas OFD1 deletion leads to centriole hyperelongation, loss of C2CD3 results in short centrioles without subdistal and distal appendages. Because C2CD3 overexpression triggers centriole hyperelongation and OFD1 antagonizes this activity, we propose that C2CD3 directly promotes centriole elongation and that OFD1 acts as a negative regulator of C2CD3. Our results identify regulation of centriole length as an emerging pathogenic mechanism in ciliopathies. © 2014 Nature America, Inc.
Authors & Co-Authors
Thauvin-Robinet, Christel
France, Dijon
Centre Hospitalier Universitaire Dijon Bourgogne
France, Dijon
Hôpital D'enfants Chu Dijon
Lee, Jaclyn S.
United States, Stanford
Stanford University School of Medicine
Lopez, Estelle
France, Dijon
Centre Hospitalier Universitaire Dijon Bourgogne
Herranz-Pérez, Vicente
Spain, Valencia
Universitat de València
Shida, Toshinobu
United States, Stanford
Stanford University School of Medicine
Franco, Brunella
Italy, Naples
Tigem Telethon Institute of Genetics and Medicine
Italy, Naples
Università Degli Studi Di Napoli Federico Ii
Jego, Laurence
France, Dijon
Centre Hospitalier Universitaire Dijon Bourgogne
Ye, Fan
United States, Stanford
Stanford University School of Medicine
Pasquier, Laurent D.
France, Rennes
Centre Hospitalier Universitaire de Rennes
Loget, Philippe
France, Rennes
Centre Hospitalier Universitaire de Rennes
Gigot, Nadège
France, Dijon
Centre Hospitalier Universitaire Dijon Bourgogne
Aral, Bernard
France, Dijon
Centre Hospitalier Universitaire Dijon Bourgogne
Lopes, Carla A.M.
United Kingdom, Leicester
University of Leicester
St.-Onge, Judith
France, Dijon
Centre Hospitalier Universitaire Dijon Bourgogne
Bruel, Ange Line
France, Dijon
Centre Hospitalier Universitaire Dijon Bourgogne
Thévenon, Julien
France, Dijon
Centre Hospitalier Universitaire Dijon Bourgogne
France, Dijon
Hôpital D'enfants Chu Dijon
González-Granero, Susana
Spain, Valencia
Universitat de València
Alby, Caroline
France, Paris
Hôpital Necker Enfants Malades
France, Paris
Paris Descartes-sorbonne Paris Cité University
Münnich, Arnold
France, Paris
Hôpital Necker Enfants Malades
France, Paris
Paris Descartes-sorbonne Paris Cité University
Vekemans, Michel J.J.
France, Paris
Hôpital Necker Enfants Malades
France, Paris
Paris Descartes-sorbonne Paris Cité University
Huet, Frédéric
France, Dijon
Centre Hospitalier Universitaire Dijon Bourgogne
France, Dijon
Hôpital D'enfants Chu Dijon
Fry, Andrew M.
United Kingdom, Leicester
University of Leicester
Saunier, Sophie
France, Paris
Paris Descartes-sorbonne Paris Cité University
France, Paris
Inserm
Rivière, Jean Baptiste
France, Dijon
Centre Hospitalier Universitaire Dijon Bourgogne
Attié-Bitach, Tania
France, Paris
Hôpital Necker Enfants Malades
France, Paris
Paris Descartes-sorbonne Paris Cité University
García-Verdugo, José Manuel
Spain, Valencia
Universitat de València
Faivre, Laurence Olivier
France, Dijon
Centre Hospitalier Universitaire Dijon Bourgogne
France, Dijon
Hôpital D'enfants Chu Dijon
Megarbane, Andre
Lebanon, Beirut
Université Saint-joseph de Beyrouth
Nachury, Maxence V.
United States, Stanford
Stanford University School of Medicine
Statistics
Citations: 115
Authors: 29
Affiliations: 12
Identifiers
Doi:
10.1038/ng.3031
ISSN:
10614036
e-ISSN:
15461718
Research Areas
Genetics And Genomics
Health System And Policy