Exploitation of Yeast & Zebrafish as Model eukaryotes of Human Neuropathies

The project exploits the cross species conservation of an enzyme which produces a metabolite essential to all free-living organisms. In humans mutations in PRPS genes are associated with Arts syndrome which is characterised by mental retardation and delayed motor development and CMTX5, a neuropathic disorder characterised by loss of muscle tissue and touch sensation. We have demonstrated that in vitro generated mutations corresponding to those associated with the human neuropathies Arts syndrome and CMTX5 impact on cell wall integrity signalling in yeast. It is intended to create additional genocopies in yeast of mutations in PRPS associated with other neuropathies. We are also interested to investigate PRPS in Zebrafish, which, like yeast, is a model organism for human diseases. The influence of genocopies of mutations in the PRPS gene(s) of Zebrafish associated with the neuropathies Arts syndrome and CMTX5 on early developmental stages of Zebrafish development will be investigated.

The successful student will receive training in genetics & molecular biology of yeast & Zebrafish and benefit from the training programme for postgraduate students in IB3.