Kaplan, Oktay I.2025-09-252025-09-2520231300-01521303-6092https://doi.org/10.55730/1300-0152.2642https://search.trdizin.gov.tr/en/yayin/detay/1159457/rpi-1-human-dcdc2-displays-functional-redundancy-with-nephronophthisis-4-in-regulating-cilia-biogenesis-in-c-eleganshttps://hdl.handle.net/20.500.12573/4526Projecting from most cell surfaces, cilia serve as important hubs for sensory and signaling processes and have been linked to a variety of human disorders, including Bardet-Biedl Syndrome (BBS), Meckel-Gruber Syndrome (MKS), Nephronophthisis (NPHP), and Joubert Syndrome, and these diseases are collectively known as a ciliopathy. DCDC2 is a ciliopathy protein that localizes to cilia; nevertheless, our understanding of the role of DCDC2 in cilia is still limited. We employed C. elegans to investigate the function of C. elegans RPI-1, a Caenorhabditis elegans ortholog of human DCDC2, in cilia and found that C. elegans RPI-1 localizes to the entire ciliary axoneme, but is not present in the transition zone and basal body. We generated a null mutant of C. elegans rpi-1, and our analysis with a range of fluorescence-based ciliary markers revealed that DCDC2 and nephronophthisis 4 (NPHP-4/NPHP4) display functional redundant roles in regulating cilia length and cilia positions. Taken together, our analysis discovered a novel genetic interaction between two ciliopathy disease genes (RPI-1/DCDC2 and NPHP-4/NPHP4) in C. elegans.eninfo:eu-repo/semantics/openAccessDcdc2CiliaNphp4Rare DiseasesArticle10.55730/1300-0152.26422-s2.0-85149010890