The retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1) links RPGR to the nephronophthisis protein network

Gerner, Martin; Ramachandran, Haribaskar; Pütz, Michael; Czerwitzki, Jacqueline; Walz, Gerd; Schäfer, Tobias

doi:10.1038/ki.2010.27

Cited by 17 publications

(10 citation statements)

References 29 publications

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“…For example, the centriolar satellite protein SSX2IP targets Cep290 to the TZ (Klinger et al , ). Moreover, Rpgrip1 directly interacts with Nphp4 and with Cep290 (Roepman et al , ; Gerner et al , ) making it plausible that Rpgrip1 is able to take part in the localisation of proteins to the TZ. Remarkably, photoreceptor cilia of Rpgrip1 nmf247 / nmf247 mice lack Nphp4 (Patil et al , ).…”

Section: Discussionmentioning

confidence: 99%

“…Since only eye defects are described in mice and humans suffering from mutations in RPGRIP1 , most studies focussed on the relationship between Rpgrip1 and eye development. Nevertheless, it was previously suggested that Rpgrip1 is not only important for eye development but also contributes to the development of the kidneys (Roepman et al , ; Gerner et al , ). Our data confirm this hypothesis and go one step further indicating that Rpgrip1 participates at least in the development of the kidneys, the brain and the heart (Fig A–C).…”

Section: Discussionmentioning

confidence: 99%

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Cell type‐specific regulation of ciliary transition zone assembly in vertebrates

et al. 2018

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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 Caenorhabditis elegans. 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.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Cell type‐specific regulation of ciliary transition zone assembly in vertebrates

et al. 2018

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“…A CEP290 hypomorphic allele enhances the severity of retinal degeneration caused by RPGR loss in the mouse (Rao et al, 2016). Likewise, CEP290 and RPGR interact genetically in zebrafish (Gerner et al, 2010). Also in the mouse, CEP290 null phenotypes were exacerbated by the loss of MKKS/BBS6, a chaperone required for BBSome assembly.…”

Section: Genetic Interactions Governing Tz Assembly and Functionmentioning

confidence: 99%

The Ciliary Transition Zone: Finding the Pieces and Assembling the Gate

Gonçalves¹,

Pelletier²

2017

Molecules and Cells

157

137

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Eukaryotic cilia are organelles that project from the surface of cells to fulfill motility and sensory functions. In vertebrates, the functions of both motile and immotile cilia are critical for embryonic development and adult tissue homeostasis. Importantly, a multitude of human diseases is caused by abnormal cilia biogenesis and functions which rely on the compartmentalization of the cilium and the maintenance of its protein composition. The transition zone (TZ) is a specialized ciliary domain present at the base of the cilium and is part of a gate that controls protein entry and exit from this organelle. The relevance of the TZ is highlighted by the fact that several of its components are coded by ciliopathy genes. Here we review recent developments in the study of TZ proteomes, the mapping of individual components to the TZ structure and the establishment of the TZ as a lipid gate.

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“…NPHP5, calmodulin, and RP GTPase regulator coprecipitate, probably as a multi‐protein complex (6, 18). NPHP5 interacts with RP GTPase regulator indirectly (19, 20) and with CEP290/ NPHP6 directly (21, 22). In vitro studies showed that CEP290‐NPHP5 interaction is required for ciliogenesis (8).…”

mentioning

confidence: 99%

Ciliopathy‐associated IQCB1/NPHP5 protein is required for mouse photoreceptor outer segment formation

et al. 2016

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Null mutations in the human IQCB1/NPHP5 (nephrocystin-5) gene that encodes NPHP5 are the most frequent cause of Senior-Løken syndrome, a ciliopathy that is characterized by Leber congenital amaurosis and nephronophthisis. We generated germline Nphp5-knockout mice by placing a β-Geo gene trap in intron 4, thereby truncating NPHP5 at Leu87 and removing all known functional domains. At eye opening, Nphp5 mice exhibited absence of scotopic and photopic electroretinogram responses, a phenotype that resembles Leber congenital amaurosis. Outer segment transmembrane protein accumulation in Nphp5 endoplasmic reticulum was evident as early as postnatal day (P)6. EGFP-CETN2, a centrosome and transition zone marker, identified basal bodies in Nphp5 photoreceptors, but without fully developed transition zones. Ultrastructure of P6 and 10 Nphp5 photoreceptors revealed aberrant transition zones of reduced diameter. Nphp5 photoreceptor degeneration was complete at 1 mo of age but was delayed significantly in Nphp5;Nrl (cone only) retina. Nphp5 mouse embryonic fibroblast developed normal cilia, and Nphp5 kidney histology at 1 yr of age showed no significant pathology. Results establish that nephrocystin-5 is essential for photoreceptor outer segment formation but is dispensable for kidney and mouse embryonic fibroblast ciliary formation.-Ronquillo, C. C., Hanke-Gogokhia, C., Revelo, M. P., Frederick, J. M., Jiang, L., Baehr, W. Ciliopathy-associated IQCB1/NPHP5 protein is required for mouse photoreceptor outer segment formation.

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The retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1) links RPGR to the nephronophthisis protein network

Cited by 17 publications

References 29 publications

Cell type‐specific regulation of ciliary transition zone assembly in vertebrates

Cell type‐specific regulation of ciliary transition zone assembly in vertebrates

The Ciliary Transition Zone: Finding the Pieces and Assembling the Gate

Ciliopathy‐associated IQCB1/NPHP5 protein is required for mouse photoreceptor outer segment formation

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