Bio

Professional Education


  • Bachelor of Science, Xiamen University (2006)
  • Doctor of Philosophy, National University Of Singapore (2011)

Stanford Advisors


Publications

All Publications


  • The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation. Nature genetics Thauvin-Robinet, C., Lee, J. S., Lopez, E., Herranz-Pérez, V., Shida, T., Franco, B., Jego, L., Ye, F., Pasquier, L., Loget, P., Gigot, N., Aral, B., Lopes, C. A., St-Onge, J., Bruel, A., Thevenon, J., González-Granero, S., Alby, C., Munnich, A., Vekemans, M., Huet, F., Fry, A. M., Saunier, S., Rivière, J., Attié-Bitach, T., Garcia-Verdugo, J. M., Faivre, L., Mégarbané, A., Nachury, M. V. 2014; 46 (8): 905-911

    Abstract

    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 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.

    View details for DOI 10.1038/ng.3031

    View details for PubMedID 24997988

  • Single molecule imaging reveals a major role for diffusion in the exploration of ciliary space by signaling receptors ELIFE Ye, F., Breslow, D. K., Koslover, E. F., Spakowitz, A. J., Nelson, W. J., Nachury, M. V. 2013; 2
  • Single molecule imaging reveals a major role for diffusion in the exploration of ciliary space by signaling receptors. eLife Ye, F., Breslow, D. K., Koslover, E. F., Spakowitz, A. J., Nelson, W. J., Nachury, M. V. 2013; 2

    Abstract

    The dynamic organization of signaling cascades inside primary cilia is key to signal propagation. Yet little is known about the dynamics of ciliary membrane proteins besides a possible role for motor-driven Intraflagellar Transport (IFT). To characterize these dynamics, we imaged single molecules of Somatostatin Receptor 3 (SSTR3, a GPCR) and Smoothened (Smo, a Hedgehog signal transducer) in the ciliary membrane. While IFT trains moved processively from one end of the cilium to the other, single SSTR3 and Smo underwent mostly diffusive behavior interspersed with short periods of directional movements. Statistical subtraction of instant velocities revealed that SSTR3 and Smo spent less than a third of their time undergoing active transport. Finally, SSTR3 and IFT movements could be uncoupled by perturbing either membrane protein diffusion or active transport. Thus ciliary membrane proteins move predominantly by diffusion, and attachment to IFT trains is transient and stochastic rather than processive or spatially determined. DOI:http://dx.doi.org/10.7554/eLife.00654.001.

    View details for DOI 10.7554/eLife.00654

    View details for PubMedID 23930224

Stanford Medicine Resources: