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Loss of Ciliary Gene Bbs8 Results in Physiological Defects in the Retinal Pigment Epithelium
Primary cilia are sensory organelles vital for developmental and physiological processes. Their dysfunction causes a range of phenotypes including retinopathies. Although primary cilia have been described in the retinal pigment epithelium (RPE), little is known about their contribution to biological...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7930748/ https://www.ncbi.nlm.nih.gov/pubmed/33681195 http://dx.doi.org/10.3389/fcell.2021.607121 |
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author | Schneider, Sandra De Cegli, Rossella Nagarajan, Jayapriya Kretschmer, Viola Matthiessen, Peter Andreas Intartaglia, Daniela Hotaling, Nathan Ueffing, Marius Boldt, Karsten Conte, Ivan May-Simera, Helen Louise |
author_facet | Schneider, Sandra De Cegli, Rossella Nagarajan, Jayapriya Kretschmer, Viola Matthiessen, Peter Andreas Intartaglia, Daniela Hotaling, Nathan Ueffing, Marius Boldt, Karsten Conte, Ivan May-Simera, Helen Louise |
author_sort | Schneider, Sandra |
collection | PubMed |
description | Primary cilia are sensory organelles vital for developmental and physiological processes. Their dysfunction causes a range of phenotypes including retinopathies. Although primary cilia have been described in the retinal pigment epithelium (RPE), little is known about their contribution to biological processes within this tissue. Ciliary proteins are increasingly being identified in non-ciliary locations and might carry out additional functions, disruption of which possibly contributes to pathology. The RPE is essential for maintaining photoreceptor cells and visual function. We demonstrate that upon loss of Bbs8, predominantly thought to be a ciliary gene, the RPE shows changes in gene and protein expression initially involved in signaling pathways and developmental processes, and at a later time point RPE homeostasis and function. Differentially regulated molecules affecting the cytoskeleton and cellular adhesion, led to defective cellular polarization and morphology associated with a possible epithelial-to-mesenchymal transition (EMT)-like phenotype. Our data highlights the benefit of combinatorial “omics” approaches with in vivo data for investigating the function of ciliopathy proteins. It also emphasizes the importance of ciliary proteins in the RPE and their contribution to visual disorders, which must be considered when designing treatment strategies for retinal degeneration. |
format | Online Article Text |
id | pubmed-7930748 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-79307482021-03-05 Loss of Ciliary Gene Bbs8 Results in Physiological Defects in the Retinal Pigment Epithelium Schneider, Sandra De Cegli, Rossella Nagarajan, Jayapriya Kretschmer, Viola Matthiessen, Peter Andreas Intartaglia, Daniela Hotaling, Nathan Ueffing, Marius Boldt, Karsten Conte, Ivan May-Simera, Helen Louise Front Cell Dev Biol Cell and Developmental Biology Primary cilia are sensory organelles vital for developmental and physiological processes. Their dysfunction causes a range of phenotypes including retinopathies. Although primary cilia have been described in the retinal pigment epithelium (RPE), little is known about their contribution to biological processes within this tissue. Ciliary proteins are increasingly being identified in non-ciliary locations and might carry out additional functions, disruption of which possibly contributes to pathology. The RPE is essential for maintaining photoreceptor cells and visual function. We demonstrate that upon loss of Bbs8, predominantly thought to be a ciliary gene, the RPE shows changes in gene and protein expression initially involved in signaling pathways and developmental processes, and at a later time point RPE homeostasis and function. Differentially regulated molecules affecting the cytoskeleton and cellular adhesion, led to defective cellular polarization and morphology associated with a possible epithelial-to-mesenchymal transition (EMT)-like phenotype. Our data highlights the benefit of combinatorial “omics” approaches with in vivo data for investigating the function of ciliopathy proteins. It also emphasizes the importance of ciliary proteins in the RPE and their contribution to visual disorders, which must be considered when designing treatment strategies for retinal degeneration. Frontiers Media S.A. 2021-02-18 /pmc/articles/PMC7930748/ /pubmed/33681195 http://dx.doi.org/10.3389/fcell.2021.607121 Text en Copyright © 2021 Schneider, De Cegli, Nagarajan, Kretschmer, Matthiessen, Intartaglia, Hotaling, Ueffing, Boldt, Conte and May-Simera. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Cell and Developmental Biology Schneider, Sandra De Cegli, Rossella Nagarajan, Jayapriya Kretschmer, Viola Matthiessen, Peter Andreas Intartaglia, Daniela Hotaling, Nathan Ueffing, Marius Boldt, Karsten Conte, Ivan May-Simera, Helen Louise Loss of Ciliary Gene Bbs8 Results in Physiological Defects in the Retinal Pigment Epithelium |
title | Loss of Ciliary Gene Bbs8 Results in Physiological Defects in the Retinal Pigment Epithelium |
title_full | Loss of Ciliary Gene Bbs8 Results in Physiological Defects in the Retinal Pigment Epithelium |
title_fullStr | Loss of Ciliary Gene Bbs8 Results in Physiological Defects in the Retinal Pigment Epithelium |
title_full_unstemmed | Loss of Ciliary Gene Bbs8 Results in Physiological Defects in the Retinal Pigment Epithelium |
title_short | Loss of Ciliary Gene Bbs8 Results in Physiological Defects in the Retinal Pigment Epithelium |
title_sort | loss of ciliary gene bbs8 results in physiological defects in the retinal pigment epithelium |
topic | Cell and Developmental Biology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7930748/ https://www.ncbi.nlm.nih.gov/pubmed/33681195 http://dx.doi.org/10.3389/fcell.2021.607121 |
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