Project details

Type of funding: PhD studentship
Grant holder: Bhattacharya, Shomi (Prof)
Student: Czub, Barbara (Miss)
Institute: UCL Institute of Ophthalmology
Conditions: Retinitis pigmentosa
Start date: Oct 2010
End date: Sep 2013
Title: Why should mutations in a ubiquitously expressed gene, such as TOPORS, cause only retinitis pigmentosa?
Description:

Retinitis pigmentosa (RP) is a common inherited eye disease, caused by the death of specific light-sensing cells in the retina, the rod photoreceptor cells. Professor Bhattacharya’s ongoing research on RP resulted in the identification of a new autosomal dominant RP (adRP) gene, TOPORS on chromosome 9 (RP31 locus). TOPORS is expressed everywhere in the body and encodes a protein with multi-functional character, however its exact function in retina still remains unknown. Moreover, TOPORS mutations only cause adRP, and despite being widely expressed no other symptoms are observed.

The objective of this proposal is to understand the molecular basis of this retina-only phenotype by identifying the interacting protein partners of TOPORS in the retina. Using molecular genetic techniques, potential interacting partners will be identified using a screening system based in the yeast organism, followed by confirmation and further analyses of the best interacting candidates.

By learning more about the protein products of genes involved in retinal function, it may help define cellular pathways implicated in retinal disease, which may have wider implications for the prognoses and development of future therapies.

Go back