<i>RPI-1</i> (human <i>DCDC2</i>) displays functional redundancy with Nephronophthisis 4 in regulating cilia biogenesis in <i>C. elegans</i>

Projecting from most cell surfaces, cilia serve as important hubs for sensory and signaling processes have been linked to a variety of human disorders, including Bardet-Biedl Syndrome (BBS), Meckel-Gruber (MKS), Nephronophthisis (NPHP), Joubert Syndrome, these diseases are collectively known ciliopathy. DCDC2 is ciliopathy protein that localizes cilia; nevertheless, our understanding the role in still limited. We employed C. elegans investigate function RPI-1, Caenorhabditis ortholog DCDC2, found RPI-1 entire ciliary axoneme, but not present transition zone basal body. generated null mutant rpi-1, analysis with range fluorescence-based markers revealed nephronophthisis 4 (NPHP-4/NPHP4) display functional redundant roles regulating length positions. Taken together, discovered novel genetic interaction between two disease genes (RPI-1/DCDC2 NPHP-4/NPHP4) elegans.