Reference - Detail
RRC ID | 4248 |
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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 |