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脊椎动物纤毛过渡区组装的细胞类型特异性调控。

Cell type-specific regulation of ciliary transition zone assembly in vertebrates.

机构信息

Institute for Animal Developmental and Molecular Biology, Heinrich Heine University, Düsseldorf, Germany.

Center for Advanced Imaging (CAi), Heinrich Heine University, Düsseldorf, Germany.

出版信息

EMBO J. 2018 May 15;37(10). doi: 10.15252/embj.201797791. Epub 2018 Apr 12.

DOI:10.15252/embj.201797791
PMID:29650680
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5978567/
Abstract

Ciliopathies are life-threatening human diseases caused by defective cilia. They can often be traced back to mutations of genes encoding transition zone (TZ) proteins demonstrating that the understanding of TZ organisation is of paramount importance. The TZ consists of multimeric protein modules that are subject to a stringent assembly hierarchy. Previous reports place Rpgrip1l at the top of the TZ assembly hierarchy in By performing quantitative immunofluorescence studies in RPGRIP1L mouse embryos and human embryonic cells, we recognise a different situation in vertebrates in which Rpgrip1l deficiency affects TZ assembly in a cell type-specific manner. In cell types in which the loss of Rpgrip1l alone does not affect all modules, additional truncation or removal of vertebrate-specific Rpgrip1 results in an impairment of all modules. Consequently, Rpgrip1l and Rpgrip1 synergistically ensure the TZ composition in several vertebrate cell types, revealing a higher complexity of TZ assembly in vertebrates than in invertebrates.

摘要

纤毛病是由纤毛缺陷引起的危及生命的人类疾病。它们通常可以追溯到编码过渡区（TZ）蛋白的基因突变，这表明对 TZ 组织的理解至关重要。TZ 由多聚体蛋白模块组成，这些模块受到严格的组装层次结构的控制。先前的报告将 Rpgrip1l 置于 TZ 组装层次结构的顶端。通过在 RPGRIP1L 小鼠胚胎和人胚胎细胞中进行定量免疫荧光研究，我们在脊椎动物中发现了一种不同的情况，在脊椎动物中，Rpgrip1l 的缺乏以细胞类型特异性的方式影响 TZ 的组装。在单独缺失 Rpgrip1l 不会影响所有模块的细胞类型中，额外的截断或去除脊椎动物特异性的 Rpgrip1 会导致所有模块的损伤。因此，Rpgrip1l 和 Rpgrip1 协同确保了几种脊椎动物细胞类型中的 TZ 组成，揭示了脊椎动物 TZ 组装的复杂性高于无脊椎动物。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d36a/5978567/0a7d711e8a55/EMBJ-37-e97791-g014.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d36a/5978567/921a01fa84f0/EMBJ-37-e97791-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d36a/5978567/72a746a004cd/EMBJ-37-e97791-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d36a/5978567/5bb691c6d4dc/EMBJ-37-e97791-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d36a/5978567/19624b7fca6e/EMBJ-37-e97791-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d36a/5978567/16a1e4f16d7e/EMBJ-37-e97791-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d36a/5978567/25c953efa027/EMBJ-37-e97791-g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d36a/5978567/197a9c6cc66f/EMBJ-37-e97791-g008.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d36a/5978567/d4403fbece5a/EMBJ-37-e97791-g009.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d36a/5978567/1929f3caaf10/EMBJ-37-e97791-g010.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d36a/5978567/649d82477b26/EMBJ-37-e97791-g011.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d36a/5978567/16cd8093c103/EMBJ-37-e97791-g012.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d36a/5978567/2d26c25a73af/EMBJ-37-e97791-g013.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d36a/5978567/0a7d711e8a55/EMBJ-37-e97791-g014.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d36a/5978567/921a01fa84f0/EMBJ-37-e97791-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d36a/5978567/72a746a004cd/EMBJ-37-e97791-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d36a/5978567/5bb691c6d4dc/EMBJ-37-e97791-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d36a/5978567/19624b7fca6e/EMBJ-37-e97791-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d36a/5978567/16a1e4f16d7e/EMBJ-37-e97791-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d36a/5978567/25c953efa027/EMBJ-37-e97791-g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d36a/5978567/197a9c6cc66f/EMBJ-37-e97791-g008.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d36a/5978567/d4403fbece5a/EMBJ-37-e97791-g009.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d36a/5978567/1929f3caaf10/EMBJ-37-e97791-g010.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d36a/5978567/649d82477b26/EMBJ-37-e97791-g011.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d36a/5978567/16cd8093c103/EMBJ-37-e97791-g012.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d36a/5978567/2d26c25a73af/EMBJ-37-e97791-g013.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d36a/5978567/0a7d711e8a55/EMBJ-37-e97791-g014.jpg

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