論文 - 詳細
| RRC ID | 45634 |
|---|---|
| 著者 | Roberson EC, Dowdle WE, Ozanturk A, Garcia-Gonzalo FR, Li C, Halbritter J, Elkhartoufi N, Porath JD, Cope H, Ashley-Koch A, Gregory S, Thomas S, Sayer JA, Saunier S, Otto EA, Katsanis N, Davis EE, Attié-Bitach T, Hildebrandt F, Leroux MR, Reiter JF. |
| タイトル | TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone. |
| ジャーナル | J Cell Biol |
| Abstract |
The Meckel syndrome (MKS) complex functions at the transition zone, located between the basal body and axoneme, to regulate the localization of ciliary membrane proteins. We investigated the role of Tmem231, a two-pass transmembrane protein, in MKS complex formation and function. Consistent with a role in transition zone function, mutation of mouse Tmem231 disrupts the localization of proteins including Arl13b and Inpp5e to cilia, resulting in phenotypes characteristic of MKS such as polydactyly and kidney cysts. Tmem231 and B9d1 are essential for each other and other complex components such as Mks1 to localize to the transition zone. As in mouse, the Caenorhabditis elegans orthologue of Tmem231 localizes to and controls transition zone formation and function, suggesting an evolutionarily conserved role for Tmem231. We identified TMEM231 mutations in orofaciodigital syndrome type 3 (OFD3) and MKS patients that compromise transition zone function. Thus, Tmem231 is critical for organizing the MKS complex and controlling ciliary composition, defects in which cause OFD3 and MKS. |
| 巻・号 | 209(1) |
| ページ | 129-42 |
| 公開日 | 2015-4-13 |
| DOI | 10.1083/jcb.201411087 |
| PII | jcb.201411087 |
| PMID | 25869670 |
| PMC | PMC4395494 |
| MeSH | Animals COS Cells Caenorhabditis elegans Chlorocebus aethiops Cilia / metabolism* Cilia / pathology Ciliary Motility Disorders / genetics* Cytoskeletal Proteins Encephalocele / genetics* HEK293 Cells Humans Membrane Proteins / genetics* Membrane Proteins / physiology Mice, 129 Strain Mice, Inbred C57BL Mice, Transgenic Mutation, Missense Orofaciodigital Syndromes / genetics* Polycystic Kidney Diseases / genetics* Proteins / metabolism Retinitis Pigmentosa |
| IF | 8.811 |
| 引用数 | 47 |
| 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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| 最多言及媒体 | X(Twitter) |
| 各媒体での言及数の合計 | 16 |
| 過去6か月間でのオルトメトリクス指標の変動値 | 0.0 |
| リソース情報 | |
| 線虫 | tm5963 tm3100 tm925 |