Ontology highlight
ABSTRACT:
SUBMITTER: Thauvin-Robinet C
PROVIDER: S-EPMC4120243 | biostudies-literature | 2014 Aug
REPOSITORIES: biostudies-literature
Thauvin-Robinet Christel C Lee Jaclyn S JS Lopez Estelle E Herranz-Pérez Vicente V Shida Toshinobu T Franco Brunella B Jego Laurence L Ye Fan F Pasquier Laurent L Loget Philippe P Gigot Nadège N Aral Bernard B Lopes Carla A M CA St-Onge Judith J Bruel Ange-Line AL Thevenon Julien J González-Granero Susana S Alby Caroline C Munnich Arnold A Vekemans Michel M Huet Frédéric F Fry Andrew M AM Saunier Sophie S Rivière Jean-Baptiste JB Attié-Bitach Tania T Garcia-Verdugo Jose Manuel JM Faivre Laurence L Mégarbané André A Nachury Maxence V MV
Nature genetics 20140706 8
Centrioles are microtubule-based, barrel-shaped structures that initiate the assembly of centrosomes and cilia. How centriole length is precisely set remains elusive. The microcephaly protein CPAP (also known as MCPH6) promotes procentriole growth, whereas the oral-facial-digital (OFD) syndrome protein OFD1 represses centriole elongation. Here we uncover a new subtype of OFD with severe microcephaly and cerebral malformations and identify distinct mutations in two affected families in the evolut ...[more]