The Caenorhabditis elegans nephrocystins act as global modifiers of cilium structure |
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Authors: | Jauregui Andrew R Nguyen Ken C Q Hall David H Barr Maureen M |
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Institution: | 1Department of Genetics, Rutgers University, Piscataway, NJ 08854;2Laboratory of Genetics, and 3School of Pharmacy, University of Wisconsin-Madison, Madison, WI 53705;4Center for C. elegans Anatomy, Department of Neuroscience, Albert Einstein College of Medicine, New York, NY 10461 |
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Abstract: | Nephronophthisis (NPHP) is the most common genetic cause of end-stage renal disease in children and young adults. In Chlamydomonas reinhardtii, Caenorhabditis elegans, and mammals, the NPHP1 and NPHP4 gene products nephrocystin-1 and nephrocystin-4 localize to basal bodies or ciliary transition zones (TZs), but their function in this location remains unknown. We show here that loss of C. elegans NPHP-1 and NPHP-4 from TZs is tolerated in developing cilia but causes changes in localization of specific ciliary components and a broad range of subtle axonemal ultrastructural defects. In amphid channel cilia, nphp-4 mutations cause B tubule defects that further disrupt intraflagellar transport (IFT). We propose that NPHP-1 and NPHP-4 act globally at the TZ to regulate ciliary access of the IFT machinery, axonemal structural components, and signaling molecules, and that perturbing this balance results in cell type-specific phenotypes. |
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