The Alter Retina: Alternative Splicing of Retinal Genes in Health and Disease.

Alternative splicing of mRNA is an essential mechanism to regulate and increase the diversity of the transcriptome and proteome. Alternative splicing frequently occurs in a tissue- or time-specific manner, contributing to differential gene expression between cell types during development. Neural tis...

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Detalles Bibliográficos
Autores: Aísa-Marín I, García-Arroyo R, Mirra S, Marfany G
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2021
País:España
Institución:Fundació Sant Joan de Déu
Repositorio:r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
OAI Identifier:oai:fsjd.fundanetsuite.com:p19237
Acceso en línea:https://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=19237
Access Level:acceso abierto
Palabra clave:alternative splicing
deep intronic variants
inherited retinal dystrophies
microexons
non-canonical splice site variants
retina
splicing factors
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spelling The Alter Retina: Alternative Splicing of Retinal Genes in Health and Disease.Aísa-Marín IGarcía-Arroyo RMirra SMarfany Galternative splicingdeep intronic variantsinherited retinal dystrophiesmicroexonsnon-canonical splice site variantsretinasplicing factorsAlternative splicing of mRNA is an essential mechanism to regulate and increase the diversity of the transcriptome and proteome. Alternative splicing frequently occurs in a tissue- or time-specific manner, contributing to differential gene expression between cell types during development. Neural tissues present extremely complex splicing programs and display the highest number of alternative splicing events. As an extension of the central nervous system, the retina constitutes an excellent system to illustrate the high diversity of neural transcripts. The retina expresses retinal specific splicing factors and produces a large number of alternative transcripts, including exclusive tissue-specific exons, which require an exquisite regulation. In fact, a current challenge in the genetic diagnosis of inherited retinal diseases stems from the lack of information regarding alternative splicing of retinal genes, as a considerable percentage of mutations alter splicing or the relative production of alternative transcripts. Modulation of alternative splicing in the retina is also instrumental in the design of novel therapeutic approaches for retinal dystrophies, since it enables precision medicine for specific mutations.MDPI2021info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttps://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=19237INTERNATIONAL JOURNAL OF MOLECULAR SCIENCESISSN: 16616596ISSNe: 14220067reponame:r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déuinstname:Fundació Sant Joan de DéuInglésinfo:eu-repo/semantics/openAccessoai:fsjd.fundanetsuite.com:p192372026-05-27T12:37:41Z
dc.title.none.fl_str_mv The Alter Retina: Alternative Splicing of Retinal Genes in Health and Disease.
title The Alter Retina: Alternative Splicing of Retinal Genes in Health and Disease.
spellingShingle The Alter Retina: Alternative Splicing of Retinal Genes in Health and Disease.
Aísa-Marín I
alternative splicing
deep intronic variants
inherited retinal dystrophies
microexons
non-canonical splice site variants
retina
splicing factors
title_short The Alter Retina: Alternative Splicing of Retinal Genes in Health and Disease.
title_full The Alter Retina: Alternative Splicing of Retinal Genes in Health and Disease.
title_fullStr The Alter Retina: Alternative Splicing of Retinal Genes in Health and Disease.
title_full_unstemmed The Alter Retina: Alternative Splicing of Retinal Genes in Health and Disease.
title_sort The Alter Retina: Alternative Splicing of Retinal Genes in Health and Disease.
dc.creator.none.fl_str_mv Aísa-Marín I
García-Arroyo R
Mirra S
Marfany G
author Aísa-Marín I
author_facet Aísa-Marín I
García-Arroyo R
Mirra S
Marfany G
author_role author
author2 García-Arroyo R
Mirra S
Marfany G
author2_role author
author
author
dc.subject.none.fl_str_mv alternative splicing
deep intronic variants
inherited retinal dystrophies
microexons
non-canonical splice site variants
retina
splicing factors
topic alternative splicing
deep intronic variants
inherited retinal dystrophies
microexons
non-canonical splice site variants
retina
splicing factors
description Alternative splicing of mRNA is an essential mechanism to regulate and increase the diversity of the transcriptome and proteome. Alternative splicing frequently occurs in a tissue- or time-specific manner, contributing to differential gene expression between cell types during development. Neural tissues present extremely complex splicing programs and display the highest number of alternative splicing events. As an extension of the central nervous system, the retina constitutes an excellent system to illustrate the high diversity of neural transcripts. The retina expresses retinal specific splicing factors and produces a large number of alternative transcripts, including exclusive tissue-specific exons, which require an exquisite regulation. In fact, a current challenge in the genetic diagnosis of inherited retinal diseases stems from the lack of information regarding alternative splicing of retinal genes, as a considerable percentage of mutations alter splicing or the relative production of alternative transcripts. Modulation of alternative splicing in the retina is also instrumental in the design of novel therapeutic approaches for retinal dystrophies, since it enables precision medicine for specific mutations.
publishDate 2021
dc.date.none.fl_str_mv 2021
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://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=19237
url https://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=19237
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv MDPI
publisher.none.fl_str_mv MDPI
dc.source.none.fl_str_mv INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
ISSN: 16616596
ISSNe: 14220067
reponame:r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname:Fundació Sant Joan de Déu
instname_str Fundació Sant Joan de Déu
reponame_str r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
collection r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15,811543

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