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The Deubiquitinating Enzyme USP48 Interacts with the Retinal Degeneration-Associated Proteins UNC119a and ARL3

Proteins related to the ubiquitin-proteasome system play an important role during the differentiation and ciliogenesis of photoreceptor cells. Mutations in several genes involved in ubiquitination and proteostasis have been identified as causative of inherited retinal dystrophies (IRDs) and ciliopat...

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Autores principales: Sánchez-Bellver, Laura, Férriz-Gordillo, Andrea, Carrillo-Pz, Marc, Rabanal, Laura, Garcia-Gonzalo, Francesc R., Marfany, Gemma
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9603860/
https://www.ncbi.nlm.nih.gov/pubmed/36293380
http://dx.doi.org/10.3390/ijms232012527
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author Sánchez-Bellver, Laura
Férriz-Gordillo, Andrea
Carrillo-Pz, Marc
Rabanal, Laura
Garcia-Gonzalo, Francesc R.
Marfany, Gemma
author_facet Sánchez-Bellver, Laura
Férriz-Gordillo, Andrea
Carrillo-Pz, Marc
Rabanal, Laura
Garcia-Gonzalo, Francesc R.
Marfany, Gemma
author_sort Sánchez-Bellver, Laura
collection PubMed
description Proteins related to the ubiquitin-proteasome system play an important role during the differentiation and ciliogenesis of photoreceptor cells. Mutations in several genes involved in ubiquitination and proteostasis have been identified as causative of inherited retinal dystrophies (IRDs) and ciliopathies. USP48 is a deubiquitinating enzyme whose role in the retina is still unexplored although previous studies indicate its relevance for neurosensory organs. In this work, we describe that a pool of endogenous USP48 localises to the basal body in retinal cells and provide data that supports the function of USP48 in the photoreceptor cilium. We also demonstrate that USP48 interacts with the IRD-associated proteins ARL3 and UNC119a, and stabilise their protein levels using different mechanisms. Our results suggest that USP48 may act in the regulation/stabilisation of key ciliary proteins for photoreceptor function, in the modulation of intracellular protein transport, and in ciliary trafficking to the photoreceptor outer segment.
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spelling pubmed-96038602022-10-27 The Deubiquitinating Enzyme USP48 Interacts with the Retinal Degeneration-Associated Proteins UNC119a and ARL3 Sánchez-Bellver, Laura Férriz-Gordillo, Andrea Carrillo-Pz, Marc Rabanal, Laura Garcia-Gonzalo, Francesc R. Marfany, Gemma Int J Mol Sci Article Proteins related to the ubiquitin-proteasome system play an important role during the differentiation and ciliogenesis of photoreceptor cells. Mutations in several genes involved in ubiquitination and proteostasis have been identified as causative of inherited retinal dystrophies (IRDs) and ciliopathies. USP48 is a deubiquitinating enzyme whose role in the retina is still unexplored although previous studies indicate its relevance for neurosensory organs. In this work, we describe that a pool of endogenous USP48 localises to the basal body in retinal cells and provide data that supports the function of USP48 in the photoreceptor cilium. We also demonstrate that USP48 interacts with the IRD-associated proteins ARL3 and UNC119a, and stabilise their protein levels using different mechanisms. Our results suggest that USP48 may act in the regulation/stabilisation of key ciliary proteins for photoreceptor function, in the modulation of intracellular protein transport, and in ciliary trafficking to the photoreceptor outer segment. MDPI 2022-10-19 /pmc/articles/PMC9603860/ /pubmed/36293380 http://dx.doi.org/10.3390/ijms232012527 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Sánchez-Bellver, Laura
Férriz-Gordillo, Andrea
Carrillo-Pz, Marc
Rabanal, Laura
Garcia-Gonzalo, Francesc R.
Marfany, Gemma
The Deubiquitinating Enzyme USP48 Interacts with the Retinal Degeneration-Associated Proteins UNC119a and ARL3
title The Deubiquitinating Enzyme USP48 Interacts with the Retinal Degeneration-Associated Proteins UNC119a and ARL3
title_full The Deubiquitinating Enzyme USP48 Interacts with the Retinal Degeneration-Associated Proteins UNC119a and ARL3
title_fullStr The Deubiquitinating Enzyme USP48 Interacts with the Retinal Degeneration-Associated Proteins UNC119a and ARL3
title_full_unstemmed The Deubiquitinating Enzyme USP48 Interacts with the Retinal Degeneration-Associated Proteins UNC119a and ARL3
title_short The Deubiquitinating Enzyme USP48 Interacts with the Retinal Degeneration-Associated Proteins UNC119a and ARL3
title_sort deubiquitinating enzyme usp48 interacts with the retinal degeneration-associated proteins unc119a and arl3
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9603860/
https://www.ncbi.nlm.nih.gov/pubmed/36293380
http://dx.doi.org/10.3390/ijms232012527
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