Project Summary
P2 investigates three newly identified ciliopathy genes encoding putative transition zone (TZ) proteins. P2 identified mutations in three genes not previously described as a cause of disease in patients with cystic kidney disease and related ciliopathies. The gene products of CBY1, TMEM218 and PATJ all localize to the ciliary TZ, which controls protein entry and exit from the cilium. P2 therefore aims at understanding the function of these proteins in the ciliary TZ in patient-derived cells and zebrafish using a combination of genetic, cell biological and biochemical approaches. New genes in so far mutation-negative patients presenting with ciliopathy phenotypes will be investigated.
