Expression of deubiquitinating enzyme genes in the developing mammal retina

Purpose: Genes involved in the development and differentiation of the mammalian retina are also associated with inherited retinal dystrophies (IRDs) and age-related macular degeneration. Transcriptional regulation of retinal cell differentiation has been addressed by genetic and transcriptomic studi...

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Autores: Esquerdo Barragán, Mariona, Toulis, Vasileios, Brooks, Matthew J., Swaroop, Anand, Marfany i Nadal, Gemma
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2019
País:España
Institución:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:2445/171876
Acceso en línea:https://hdl.handle.net/2445/171876
Access Level:acceso abierto
Palabra clave:Malalties de la retina
Mamífers
Retinal diseases
Mammals
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spelling Expression of deubiquitinating enzyme genes in the developing mammal retinaEsquerdo Barragán, MarionaToulis, VasileiosBrooks, Matthew J.Swaroop, AnandMarfany i Nadal, GemmaMalalties de la retinaMamífersRetinal diseasesMammalsPurpose: Genes involved in the development and differentiation of the mammalian retina are also associated with inherited retinal dystrophies (IRDs) and age-related macular degeneration. Transcriptional regulation of retinal cell differentiation has been addressed by genetic and transcriptomic studies. Much less is known about the posttranslational regulation of key regulatory proteins, although mutations in some genes involved in ubiquitination and proteostasis E3 ligases and deubiquitinating enzymes (DUBs) cause IRDs. This study intends to provide new data on DUB gene expression during different developmental stages of mouse and human fetal retinas. Methods: We performed a comprehensive transcriptomic analysis of all the annotated human and mouse DUBs (87) in the developing mouse retina at several embryonic and postnatal time points compared with the transcriptome of the fetal human retina. An integrated comparison of data from transcriptomics, reported chromatin immunoprecipitation sequencing (ChIP-seq) of CRX and NRL transcription factors, and the phenotypic retinal alterations in different animal models is presented. Results: Several DUB genes are differentially expressed during the development of the mouse and human retinas in relation to proliferation or differentiation stages. Some DUB genes appear to be distinctly expressed during the differentiation stages of rod and cone photoreceptor cells, and their expression is altered in mouse knockout models of relevant photoreceptor transcription factors. We complemented this RNA-sequencing (RNA-seq) analysis with other reported expression and phenotypic data to underscore the involvement of DUBs in cell fate decision and photoreceptor differentiation. Conclusions: The present results highlight a short list of potential DUB candidates for retinal disorders, which require further study.Emory University2020202020192020info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersion14 p.application/pdfhttps://hdl.handle.net/2445/171876Articles publicats en revistes (Genètica, Microbiologia i Estadística)reponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésReproducció del document publicat a: http://www.molvis.org/molvis/v25/800Molecular Vision, 2019, vol. 25, p. 800-813cc-by-nc-nd (c) Esquerdo Barragán, Mariona et al., 2019http://creativecommons.org/licenses/by-nc-nd/3.0/esinfo:eu-repo/semantics/openAccessoai:recercat.cat:2445/1718762026-05-29T05:05:01Z
dc.title.none.fl_str_mv Expression of deubiquitinating enzyme genes in the developing mammal retina
title Expression of deubiquitinating enzyme genes in the developing mammal retina
spellingShingle Expression of deubiquitinating enzyme genes in the developing mammal retina
Esquerdo Barragán, Mariona
Malalties de la retina
Mamífers
Retinal diseases
Mammals
title_short Expression of deubiquitinating enzyme genes in the developing mammal retina
title_full Expression of deubiquitinating enzyme genes in the developing mammal retina
title_fullStr Expression of deubiquitinating enzyme genes in the developing mammal retina
title_full_unstemmed Expression of deubiquitinating enzyme genes in the developing mammal retina
title_sort Expression of deubiquitinating enzyme genes in the developing mammal retina
dc.creator.none.fl_str_mv Esquerdo Barragán, Mariona
Toulis, Vasileios
Brooks, Matthew J.
Swaroop, Anand
Marfany i Nadal, Gemma
author Esquerdo Barragán, Mariona
author_facet Esquerdo Barragán, Mariona
Toulis, Vasileios
Brooks, Matthew J.
Swaroop, Anand
Marfany i Nadal, Gemma
author_role author
author2 Toulis, Vasileios
Brooks, Matthew J.
Swaroop, Anand
Marfany i Nadal, Gemma
author2_role author
author
author
author
dc.subject.none.fl_str_mv Malalties de la retina
Mamífers
Retinal diseases
Mammals
topic Malalties de la retina
Mamífers
Retinal diseases
Mammals
description Purpose: Genes involved in the development and differentiation of the mammalian retina are also associated with inherited retinal dystrophies (IRDs) and age-related macular degeneration. Transcriptional regulation of retinal cell differentiation has been addressed by genetic and transcriptomic studies. Much less is known about the posttranslational regulation of key regulatory proteins, although mutations in some genes involved in ubiquitination and proteostasis E3 ligases and deubiquitinating enzymes (DUBs) cause IRDs. This study intends to provide new data on DUB gene expression during different developmental stages of mouse and human fetal retinas. Methods: We performed a comprehensive transcriptomic analysis of all the annotated human and mouse DUBs (87) in the developing mouse retina at several embryonic and postnatal time points compared with the transcriptome of the fetal human retina. An integrated comparison of data from transcriptomics, reported chromatin immunoprecipitation sequencing (ChIP-seq) of CRX and NRL transcription factors, and the phenotypic retinal alterations in different animal models is presented. Results: Several DUB genes are differentially expressed during the development of the mouse and human retinas in relation to proliferation or differentiation stages. Some DUB genes appear to be distinctly expressed during the differentiation stages of rod and cone photoreceptor cells, and their expression is altered in mouse knockout models of relevant photoreceptor transcription factors. We complemented this RNA-sequencing (RNA-seq) analysis with other reported expression and phenotypic data to underscore the involvement of DUBs in cell fate decision and photoreceptor differentiation. Conclusions: The present results highlight a short list of potential DUB candidates for retinal disorders, which require further study.
publishDate 2019
dc.date.none.fl_str_mv 2019
2020
2020
2020
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/2445/171876
url https://hdl.handle.net/2445/171876
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Reproducció del document publicat a: http://www.molvis.org/molvis/v25/800
Molecular Vision, 2019, vol. 25, p. 800-813
dc.rights.none.fl_str_mv cc-by-nc-nd (c) Esquerdo Barragán, Mariona et al., 2019
http://creativecommons.org/licenses/by-nc-nd/3.0/es
info:eu-repo/semantics/openAccess
rights_invalid_str_mv cc-by-nc-nd (c) Esquerdo Barragán, Mariona et al., 2019
http://creativecommons.org/licenses/by-nc-nd/3.0/es
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 14 p.
application/pdf
dc.publisher.none.fl_str_mv Emory University
publisher.none.fl_str_mv Emory University
dc.source.none.fl_str_mv Articles publicats en revistes (Genètica, Microbiologia i Estadística)
reponame:Recercat. Dipósit de la Recerca de Catalunya
instname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
instname_str Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
reponame_str Recercat. Dipósit de la Recerca de Catalunya
collection Recercat. Dipósit de la Recerca de Catalunya
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15.811543

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