ESR13

Interrogating how ciliopathy mutations affect mechanism, complexes and interactions

The new availability of ciliary interactome data, together with increasing knowledge of ciliopathy disease genes and mutations makes it feasible to chart all possible complexes and interactions relevant to ciliary disease. P6-UHEI has adapted its socioaffinity method to process data produced by the cilia/ciliopathy community. ESR13 will collect all known ciliopathy mutations, and relate them to this ciliary interactome, in close collaboration with P7-EKUT. This will involve creating a computational framework for storing/querying and an updating scheme to add data arising from other partners, new protein structures and interactions determined elsewhere (collab with P10-CellNetworks). ESR13 will interrogate ciliopathy mutations, with a view to design experiments to probe molecular mechanism. This work profits from the Mechismo system to interrogate mutations using interactions and structures, to which ESR13 will also contribute.

Partner: University of Heidelberg, Germany

Supervisor: prof dr R. Russell