Reference - Detail
| RRC ID | 4248 |
|---|---|
| Author | Jauregui AR, Nguyen KC, Hall DH, Barr MM. |
| Title | The Caenorhabditis elegans nephrocystins act as global modifiers of cilium structure. |
| Journal | J Cell Biol |
| 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. |
| Volume | 180(5) |
| Pages | 973-88 |
| Published | 2008-3-10 |
| DOI | 10.1083/jcb.200707090 |
| PII | jcb.200707090 |
| PMID | 18316409 |
| PMC | PMC2265406 |
| MeSH | 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 |
| IF | 8.811 |
| Times Cited | 76 |
| WOS Category | CELL BIOLOGY |
| Resource | |
| C.elegans | tm925 |