Article
The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation.
Nature genetics - 1 Aug 2014
Thauvin-Robinet Christel, Lee Jaclyn S, Lopez Estelle, Herranz-Pérez Vicente, Shida Toshinobu, Franco Brunella, Jego Laurence, Ye Fan, Pasquier Laurent, Loget Philippe, Gigot Nadège, Aral Bernard, Lopes Carla A M, St-Onge Judith, Bruel Ange-Line, Thevenon Julien, González-Granero Susana, Alby Caroline, Munnich Arnold, Vekemans Michel, Huet Frédéric, Fry Andrew M, Saunier Sophie, Rivière Jean-Baptiste, Attié-Bitach Tania, Garcia-Verdugo Jose Manuel, Faivre Laurence, Mégarbané André, Nachury Maxence V
Abstract excerpt
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...
Topics
- Cell Line
- Centrioles
- Child, Preschool
- Genetic Predisposition to Disease
- HEK293 Cells
- Humans
- Male
- Microcephaly