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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doaj-2f844944303d44d4b2f9114df33298d92021-02-13T00:05:05ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672021-02-01221855185510.3390/ijms22041855The Alter Retina: Alternative Splicing of Retinal Genes in Health and DiseaseIzarbe Aísa-Marín0Rocío García-Arroyo1Serena Mirra2Gemma Marfany3Department of Genetics, Microbiology and Statistics, Avda. Diagonal 643, Universitat de Barcelona, 08028 Barcelona, SpainDepartment of Genetics, Microbiology and Statistics, Avda. Diagonal 643, Universitat de Barcelona, 08028 Barcelona, SpainDepartment of Genetics, Microbiology and Statistics, Avda. Diagonal 643, Universitat de Barcelona, 08028 Barcelona, SpainDepartment of Genetics, Microbiology and Statistics, Avda. Diagonal 643, Universitat de Barcelona, 08028 Barcelona, SpainAlternative 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.https://www.mdpi.com/1422-0067/22/4/1855retinaalternative splicinginherited retinal dystrophiessplicing factorsnon-canonical splice site variantsdeep intronic variants |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Izarbe Aísa-Marín Rocío García-Arroyo Serena Mirra Gemma Marfany |
spellingShingle |
Izarbe Aísa-Marín Rocío García-Arroyo Serena Mirra Gemma Marfany The Alter Retina: Alternative Splicing of Retinal Genes in Health and Disease International Journal of Molecular Sciences retina alternative splicing inherited retinal dystrophies splicing factors non-canonical splice site variants deep intronic variants |
author_facet |
Izarbe Aísa-Marín Rocío García-Arroyo Serena Mirra Gemma Marfany |
author_sort |
Izarbe Aísa-Marín |
title |
The Alter Retina: Alternative Splicing of Retinal Genes in Health and Disease |
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 |
alter retina: alternative splicing of retinal genes in health and disease |
publisher |
MDPI AG |
series |
International Journal of Molecular Sciences |
issn |
1661-6596 1422-0067 |
publishDate |
2021-02-01 |
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. |
topic |
retina alternative splicing inherited retinal dystrophies splicing factors non-canonical splice site variants deep intronic variants |
url |
https://www.mdpi.com/1422-0067/22/4/1855 |
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