Project Title: Elucidating the molecular function of SNAP29 a gene mutated in CEDNIK syndrome

Project supervisor: Dr Andrew Peden (BMS and CMIAD)

Application deadline: Friday 14 December 2012.

Project description:

CEDNIK (cerebral dysgenesis, neuropathy, ichthyosis and keratoderma) syndrome is a rare fatal disease caused by the loss of SNAP29. SNAP29 is member of a family of proteins required for membrane transport and specifically vesicle fusion. We have recently shown that SNAP29 is required for the fusion of secretory vesicles with the plasma membrane. Thus, our work suggests that CEDNIK syndrome may be in part be caused by a defect in constitutive secretion.

The aim of this project is to elucidate the molecular details of how SNAP29 functions. Specifically the project will:

1) Determine how SNAP29 is targeted and packaged into post-Golgi vesicles.

2) Identify proteins required for coordinating SNAP29s function. This project will use a combination of high-resolution microscopy, functional assays and proteomic based techniques.

References

• Gordon D.E., Bond L.M., Sahlender D.A. and Peden A.A.
  A targeted siRNA screen to identify SNAREs required for constitutive secretion in mammalian cells
  2010 Traffic. 11, 1191-1204.
• Miller S.E., Sahlender D., Graham S., Hoening S., Robinson M.S. Peden A.A and Owen D.J.
  The Molecular Basis for the Endocytosis of Small R-SNAREs by the Clathrin Adaptor CALM.
  2011 Cell 147, 1118-1131.

Contact details:

Dr Andrew Peden

Email: a.peden@sheffield.ac.uk

Web: http://www.sheffield.ac.uk/bms/research/peden/