Project Summary
P2 will study newly identified proteins that interact with CBY1 and TMEM218, which they identified to be causative when mutated in patients with cystic kidney disease and other ciliopathies. The new candidates will be investigated in patient-derived cells and zebrafish using a combination of genetic, cell biological, and biochemical approaches aimed at studying their impact on cilia formation and function. Similar studies will also be performed to dissect the roles of two currently undescribed candidate genes, in which P2 identified putatively deleterious variants in their large cohort of patients with cystic kidney diseases and other ciliopathies without mutations in currently known disease genes.
