By the Tips of Your Cilia: Ciliogenesis in the Retina and the Ubiquitin-Proteasome System.

Primary cilia are microtubule-based sensory organelles that are involved in the organization of numerous key signals during development and in differentiated tissue homeostasis. In fact, the formation and resorption of cilia highly depends on the cell cycle phase in replicative cells, and the ubiqui...

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Detalles Bibliográficos
Autores: Toulis, Vasileios, Marfany i Nadal, Gemma
Tipo de recurso: artículo
Estado:Versión aceptada para publicación
Fecha de publicación:2020
País:España
Institución:Universidad de Barcelona
Repositorio:Dipòsit Digital de la UB
OAI Identifier:oai:diposit.ub.edu:2445/196031
Acceso en línea:https://hdl.handle.net/2445/196031
Access Level:acceso abierto
Palabra clave:Fotoreceptors
Ubiqüitina
Photoreceptors
Ubiquitin
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spelling By the Tips of Your Cilia: Ciliogenesis in the Retina and the Ubiquitin-Proteasome System.Toulis, VasileiosMarfany i Nadal, GemmaFotoreceptorsUbiqüitinaPhotoreceptorsUbiquitinPrimary cilia are microtubule-based sensory organelles that are involved in the organization of numerous key signals during development and in differentiated tissue homeostasis. In fact, the formation and resorption of cilia highly depends on the cell cycle phase in replicative cells, and the ubiquitin proteasome pathway (UPS) proteins, such as E3 ligases and deubiquitinating enzymes, promote microtubule assembly and disassembly by regulating the degradation/availability of ciliary regulatory proteins. Also, many differentiated tissues display cilia, and mutations in genes encoding ciliary proteins are associated with several human pathologies, named ciliopathies, which are multi-organ rare diseases. The retina is one of the organs most affected by ciliary gene mutations because photoreceptors are ciliated cells. Photoreception and phototransduction occur in the outer segment, a highly specialized neurosensory cilium. In this review, we focus on the function of UPS proteins in ciliogenesis and cilia length control in replicative cells and compare it with the scanty data on the identified UPS genes that cause syndromic and non-syndromic inherited retinal disorders. Clearly, further work using animal models and gene-edited mutants of ciliary genes in cells and organoids will widen the landscape of UPS involvement in ciliogenesis and cilia homeostasis.Springer Verlag2020info:eu-repo/semantics/articleinfo:eu-repo/semantics/acceptedVersionapplication/pdfhttps://hdl.handle.net/2445/196031Articles publicats en revistes (Genètica, Microbiologia i Estadística)reponame:Dipòsit Digital de la UBinstname:Universidad de BarcelonaInglésVersió postprint del document publicat a: https://doi.org/10.1007/978-3-030-38266-7_13Advances in Experimental Medicine and Biology, 2020, vol. 1233, p. 303-310https://doi.org/10.1007/978-3-030-38266-7_13(c) Springer Verlag, 2020info:eu-repo/semantics/openAccessoai:diposit.ub.edu:2445/1960312026-05-27T06:46:51Z
dc.title.none.fl_str_mv By the Tips of Your Cilia: Ciliogenesis in the Retina and the Ubiquitin-Proteasome System.
title By the Tips of Your Cilia: Ciliogenesis in the Retina and the Ubiquitin-Proteasome System.
spellingShingle By the Tips of Your Cilia: Ciliogenesis in the Retina and the Ubiquitin-Proteasome System.
Toulis, Vasileios
Fotoreceptors
Ubiqüitina
Photoreceptors
Ubiquitin
title_short By the Tips of Your Cilia: Ciliogenesis in the Retina and the Ubiquitin-Proteasome System.
title_full By the Tips of Your Cilia: Ciliogenesis in the Retina and the Ubiquitin-Proteasome System.
title_fullStr By the Tips of Your Cilia: Ciliogenesis in the Retina and the Ubiquitin-Proteasome System.
title_full_unstemmed By the Tips of Your Cilia: Ciliogenesis in the Retina and the Ubiquitin-Proteasome System.
title_sort By the Tips of Your Cilia: Ciliogenesis in the Retina and the Ubiquitin-Proteasome System.
dc.creator.none.fl_str_mv Toulis, Vasileios
Marfany i Nadal, Gemma
author Toulis, Vasileios
author_facet Toulis, Vasileios
Marfany i Nadal, Gemma
author_role author
author2 Marfany i Nadal, Gemma
author2_role author
dc.subject.none.fl_str_mv Fotoreceptors
Ubiqüitina
Photoreceptors
Ubiquitin
topic Fotoreceptors
Ubiqüitina
Photoreceptors
Ubiquitin
description Primary cilia are microtubule-based sensory organelles that are involved in the organization of numerous key signals during development and in differentiated tissue homeostasis. In fact, the formation and resorption of cilia highly depends on the cell cycle phase in replicative cells, and the ubiquitin proteasome pathway (UPS) proteins, such as E3 ligases and deubiquitinating enzymes, promote microtubule assembly and disassembly by regulating the degradation/availability of ciliary regulatory proteins. Also, many differentiated tissues display cilia, and mutations in genes encoding ciliary proteins are associated with several human pathologies, named ciliopathies, which are multi-organ rare diseases. The retina is one of the organs most affected by ciliary gene mutations because photoreceptors are ciliated cells. Photoreception and phototransduction occur in the outer segment, a highly specialized neurosensory cilium. In this review, we focus on the function of UPS proteins in ciliogenesis and cilia length control in replicative cells and compare it with the scanty data on the identified UPS genes that cause syndromic and non-syndromic inherited retinal disorders. Clearly, further work using animal models and gene-edited mutants of ciliary genes in cells and organoids will widen the landscape of UPS involvement in ciliogenesis and cilia homeostasis.
publishDate 2020
dc.date.none.fl_str_mv 2020
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/acceptedVersion
format article
status_str acceptedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/2445/196031
url https://hdl.handle.net/2445/196031
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Versió postprint del document publicat a: https://doi.org/10.1007/978-3-030-38266-7_13
Advances in Experimental Medicine and Biology, 2020, vol. 1233, p. 303-310
https://doi.org/10.1007/978-3-030-38266-7_13
dc.rights.none.fl_str_mv (c) Springer Verlag, 2020
info:eu-repo/semantics/openAccess
rights_invalid_str_mv (c) Springer Verlag, 2020
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Springer Verlag
publisher.none.fl_str_mv Springer Verlag
dc.source.none.fl_str_mv Articles publicats en revistes (Genètica, Microbiologia i Estadística)
reponame:Dipòsit Digital de la UB
instname:Universidad de Barcelona
instname_str Universidad de Barcelona
reponame_str Dipòsit Digital de la UB
collection Dipòsit Digital de la UB
repository.name.fl_str_mv
repository.mail.fl_str_mv
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