論文 - 詳細
| RRC ID | 46463 |
|---|---|
| 著者 | Warburton-Pitt SR, Jauregui AR, Li C, Wang J, Leroux MR, Barr MM. |
| タイトル | Ciliogenesis in Caenorhabditis elegans requires genetic interactions between ciliary middle segment localized NPHP-2 (inversin) and transition zone-associated proteins. |
| ジャーナル | J Cell Sci |
| Abstract |
The cystic kidney diseases nephronophthisis (NPHP), Meckel-Gruber syndrome (MKS) and Joubert syndrome (JBTS) share an underlying etiology of dysfunctional cilia. Patients diagnosed with NPHP type II have mutations in the gene INVS (also known as NPHP2), which encodes inversin, a cilia localizing protein. Here, we show that the C. elegans inversin ortholog, NPHP-2, localizes to the middle segment of sensory cilia and that nphp-2 is partially redundant with nphp-1 and nphp-4 (orthologs of human NPHP1 and NPHP4, respectively) for cilia placement within the head and tail sensilla. nphp-2 also genetically interacts with MKS ciliopathy gene orthologs, including mks-1, mks-3, mks-6, mksr-1 and mksr-2, in a sensilla-dependent manner to control cilia formation and placement. However, nphp-2 is not required for correct localization of the NPHP- and MKS-encoded ciliary transition zone proteins or for intraflagellar transport (IFT). We conclude that INVS/NPHP2 is conserved in C. elegans and that nphp-2 plays an important role in C. elegans cilia by acting as a modifier of the NPHP and MKS pathways to control cilia formation and development. |
| 巻・号 | 125(Pt 11) |
| ページ | 2592-603 |
| 公開日 | 2012-6-1 |
| DOI | 10.1242/jcs.095539 |
| PII | jcs.095539 |
| PMID | 22393243 |
| PMC | PMC3403231 |
| MeSH | Animals Biological Transport Caenorhabditis elegans / genetics* Caenorhabditis elegans Proteins / genetics* Caenorhabditis elegans Proteins / metabolism Cilia / metabolism* Coloring Agents / metabolism Dendrites / metabolism Flagella / metabolism Genes, Helminth / genetics Humans Models, Biological Organogenesis / genetics* Protein Isoforms / genetics Protein Isoforms / metabolism Sequence Homology, Amino Acid Transcription Factors / genetics* Transcription Factors / metabolism |
| IF | 4.573 |
| 引用数 | 23 |
| WOS 分野 | CELL BIOLOGY |
| オルトメトリクス指標 |
オルトメトリクス指標項目
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| 各媒体での言及数の合計 | 0 |
| リソース情報 | |
| 線虫 | tm1925 tm2705 tm2452 tm2547 tm925 tm3083 |