TableEdit

Jauregui, AR, Nguyen, KC, Hall, DH and Barr, MM (2008) The Caenorhabditis elegans nephrocystins act as global modifiers of cilium structure. J. Cell Biol. 180:973-88

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.

PubMed PMC2265406 Online version:10.1083/jcb.200707090

Animals; Axoneme/metabolism; Axoneme/pathology; Axoneme/ultrastructure; Caenorhabditis elegans/embryology; Caenorhabditis elegans/ultrastructure; Caenorhabditis elegans Proteins/genetics; Caenorhabditis elegans Proteins/metabolism; Cell Differentiation/genetics; Cilia/metabolism; Cilia/pathology; Cilia/ultrastructure; Gene Expression Regulation, Developmental/genetics; Microtubules/genetics; Microtubules/metabolism; Microtubules/ultrastructure; Mutation/genetics; Phenotype; Signal Transduction/genetics