Reference - Detail
| RRC ID | 82601 |
|---|---|
| Author | Yamazaki S, Fujii T, Chiba S, Shin HW, Nakayama K, Katoh Y. |
| Title | TXNDC15, an ER-localized thioredoxin-like transmembrane protein, contributes to ciliary transition zone integrity. |
| Journal | J Cell Sci |
| Abstract |
Primary cilia have specific proteins on their membrane to fulfill their sensory functions. Preservation of the specific protein composition of cilia relies on the barrier function of the transition zone (TZ) located at the ciliary base. Defects in cilia and the TZ cause ciliopathies, which have diverse clinical manifestations, including Meckel syndrome (MKS). Many of the proteins mutated in individuals with MKS are known to constitute the MKS module of the TZ. Although TXNDC15 (also known as MKS14) is a thioredoxin-related transmembrane protein that is localized mainly in the endoplasmic reticulum (ER) and is mutated in individuals with MKS, its role at the TZ or within cilia has not been characterized. Here, we show that TXNDC15-knockout cells have defects in MKS module assembly and in ciliary membrane protein localization. These defects in TXNDC15-knockout cells were not rescued by exogenous expression of any of the TXNDC15 constructs with MKS variations in the thioredoxin domain. Furthermore, TXNDC15 with mutations of two cysteine residues within the thioredoxin domain failed to rescue defects in TXNDC15-knockout cells, suggesting that TXNDC15 controls the TZ integrity from outside the TZ via its thioredoxin domain. |
| Volume | 137(24) |
| Published | 2024-12-15 |
| DOI | 10.1242/jcs.262123 |
| PII | 363476 |
| PMID | 39679447 |
| MeSH | Animals Cilia* / metabolism Endoplasmic Reticulum* / metabolism Humans Membrane Proteins / genetics Membrane Proteins / metabolism Mice Mutation Thioredoxins* / genetics Thioredoxins* / metabolism |
| IF | 4.573 |
| Altmetric score |
オルトメトリクス指標項目
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| The most frequently cited source | X(Twitter) |
| Total number of mentions | 6 |
| Altmetric score changes over past 6months | 0.0 |
| Resource | |
| Human and Animal Cells | 293T(RCB2202) |
| DNA material | IRAL008H08 (HGY083376) |