The aim of this study was to gain more insight in the function of two ciliopathy-associated protein homologs, RPGR interacting protein 1 (RPGRIP1), and RPGRIP1-like protein (RPGRIP1L). Base on the data, the authors hypothesize that RPGRIP1 and RPGRIP1L function as cilium-specific scaffolds that recruit a Nek4 signaling network which regulates cilium stability.
Cohesinopathies are human developmental disorders caused by inherited defects in cellular components controlling the process of sister chromatid cohesion. This cohesion mechanism takes care of keeping the sister chromatids close together from the stage of DNA replication up until mitosis. Two syndromes were described so far in the group of cohesinopathes: Roberts syndrome and Cornelia de Lange syndrome. In Van der Lelij research, a third cohesinopathy is added to this group: The Warsaw Breakage syndrome, caused by mutations in DDX11/ChlR1.