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

International Journal of Molecular Sciences
Izarbe Aísa-MarínGemma Marfany


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.


Oct 1, 1989·Genes & Development·J Wu, J L Manley
Apr 1, 1995·Genes & Development·J S Sun, J L Manley
Dec 24, 1996·Proceedings of the National Academy of Sciences of the United States of America·D A SternerS M Berget
Aug 26, 1998·Current Biology : CB·P L Raghunathan, C Guthrie
Mar 30, 1999·Nature Biotechnology·M PuttarajuL G Mitchell
Aug 10, 2000·Nature Genetics·R VervoortA F Wright
Dec 1, 2001·The Journal of Biological Chemistry·Csaba Finta, Peter G Zaphiropoulos
Oct 31, 2002·RNA·Bianca J Lam, Klemens J Hertel
Sep 26, 2003·Investigative Ophthalmology & Visual Science·Eranga N VithanaShomi S Bhattacharya
Mar 15, 2006·Experimental Eye Research·Henry K W FongSujay Pandey
Aug 16, 2006·American Journal of Human Genetics·Anneke I den HollanderFrans P M Cremers
Sep 28, 2006·Investigative Ophthalmology & Visual Science·Lori S SullivanStephen P Daiger
Apr 4, 2007·Human Mutation·John NeidhardtWolfgang Berger
Nov 24, 2007·Experimental Eye Research·Dongli YangBret A Hughes
Nov 4, 2008·Nature·Eric T WangChristopher B Burge
Feb 26, 2009·Cell·Markus C WahlReinhard Lührmann
Oct 17, 2009·Investigative Ophthalmology & Visual Science·Fabian SchmidJohn Neidhardt
Aug 7, 2010·Human Mutation·Frauke CoppietersElfride De Baere
Aug 11, 2010·Archives of Ophthalmology·Isabelle S AudoChristina Zeitz
Feb 18, 2011·Molecular Therapy : the Journal of the American Society of Gene Therapy·Esther GlausJohn Neidhardt
Apr 22, 2011·Investigative Ophthalmology & Visual Science·Alejandro GarantoRoser Gonzàlez-Duarte
May 7, 2011·Investigative Ophthalmology & Visual Science·Rachel N WrightBrian Perkins
Jul 5, 2011·Nucleic Acids Research·Jun WanJiang Qian
Jul 14, 2011·Genome Research·Timothy Sterne-WeilerJeremy R Sanford
Oct 13, 2011·Molecular Therapy : the Journal of the American Society of Gene Therapy·Mark E KleinmanJayakrishna Ambati
Dec 22, 2012·Science·Jason MerkinChristopher B Burge
Jan 25, 2013·Molecular Therapy. Nucleic Acids·Rob W J CollinFrans P M Cremers
May 8, 2013·Clinical Genetics·M M Liu, D J Zack
Jan 24, 2014·Nature Reviews. Molecular Cell Biology·A Gregory Matera, Zefeng Wang
Dec 20, 2014·Cell·Li Yang, Ling-Ling Chen
Jan 27, 2015·Molecular Therapy : the Journal of the American Society of Gene Therapy·Adeline BergerAlexis-Pierre Bemelmans
Mar 10, 2015·Biochemistry. Biokhimii︠a︡·L I Patrushev, T F Kovalenko
Mar 11, 2015·Molecular and Cellular Neurosciences·Irene E WhitneyBenjamin E Reese
Mar 18, 2015·Molecular and Cellular Biology·Daniel MurphyPeter Stoilov
Mar 19, 2015·Annual Review of Biochemistry·Yeon Lee, Donald C Rio
Jun 13, 2015·Science Translational Medicine·Theodore G DrivasJean Bennett
Jul 28, 2015·Current Opinion in Ophthalmology·John Pei-Wen Chiang, Karmen Trzupek
Oct 3, 2015·Advances in Experimental Medicine and Biology·Xavier GerardRob W J Collin
Dec 25, 2015·Artificial Cells, Nanomedicine, and Biotechnology·Xin Qi
May 25, 2016·Human Genetics·Thomas GeuensVincent Timmerman
Jun 16, 2016·RNA Biology·Šárka Růžičková, David Staněk
Jul 23, 2016·Science·Chuangye YanYigong Shi
Nov 23, 2016·Molecular Therapy. Nucleic Acids·Tobias BonifertBernd Wissinger
Dec 19, 2016·Cellular and Molecular Life Sciences : CMLS·Wenyan HuMengqing Xiang
Feb 3, 2017·Molecules and Cells·Sunjoo Jeong
Apr 21, 2017·Frontiers in Neuroscience·Peter M QuinnJan Wijnholds
May 11, 2017·Nature Reviews. Molecular Cell Biology·Francisco E Baralle, Jimena Giudice
May 13, 2017·Human Genetics·Rita Vaz-DragoMaria Carmo-Fonseca
Jun 8, 2017·The International Journal of Biochemistry & Cell Biology·Guido HermeyDietmar Kuhl
Jul 27, 2017·The International Journal of Biochemistry & Cell Biology·Paulo J da CostaLuísa Romão
Aug 3, 2017·Cell Reports·Yansheng LiuVihandha O Wickramasinghe
Oct 19, 2017·Progress in Retinal and Eye Research·Dimitra AthanasiouMichael E Cheetham
Dec 20, 2017·Molecular and Cellular Neurosciences·Robert S PorterShigeki Iwase
Jan 7, 2018·International Review of Cell and Molecular Biology·Atze J BergsmaW W M Pim Pijnappel
Feb 6, 2018·PloS One·Yi-Sian LinHsien-Sung Huang
Mar 15, 2018·Pflügers Archiv : European journal of physiology·Hyoung Kyu KimJin Han
Apr 24, 2018·Journal of Applied Genetics·Abramowicz Anna, Gos Monika
May 4, 2018·Advances in Experimental Medicine and Biology·Alejandro GarantoRob W J Collin
May 17, 2018·Methods in Molecular Biology·Anthony BayegaJiannis Ragoussis
Jun 1, 2018·Cold Spring Harbor Molecular Case Studies·Jana ZernantRando Allikmets
Jun 22, 2018·The British Journal of Ophthalmology·Kaoru FujinamiProgStar Study Group
Jul 22, 2018·Annual Review of Cell and Developmental Biology·Elisabetta Furlanis, Peter Scheiffele
Aug 22, 2018·Proceedings of the National Academy of Sciences of the United States of America·Artur V CideciyanWilliam A Beltran
Sep 10, 2018·Molecular Therapy. Nucleic Acids·Scott J DooleyJean Bennett
Jan 16, 2019·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Riccardo SangermanoFrans P M Cremers
Jan 31, 2019·Development·Carla B MelloughMajlinda Lako
Jul 6, 2019·Biochimica Et Biophysica Acta. Gene Regulatory Mechanisms·Hossein Shenasa, Klemens J Hertel
Sep 21, 2019·Human Genetics·Mohit K MidhaKuo-Ping Chiu
Sep 28, 2019·RNA Biology·Simona CapponiH Th Marc Timmers
Oct 8, 2019·Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences·Ashley ByrneChristopher Vollmers
Oct 28, 2019·European Journal of Human Genetics : EJHG·Leila Azizzadeh PormehrMahshid Shafiezadeh
Oct 31, 2019·Trends in Genetics : TIG·Hyunmin LeeHenry M Krause
Nov 8, 2019·Biochimica Et Biophysica Acta. Gene Regulatory Mechanisms·Gabrielle WhewayDiana Baralle
Dec 4, 2019·Annual Review of Biochemistry·Max E WilkinsonKiyoshi Nagai
Dec 10, 2019·Human Molecular Genetics·Lisa M RiedmayrElvir Becirovic
Dec 31, 2019·Advances in Experimental Medicine and Biology·Alejandro Garanto
Jan 11, 2020·Nature Communications·Jonathan P LingSeth Blackshaw
Mar 5, 2020·Wiley Interdisciplinary Reviews. RNA·Michael TellierShona Murphy
Apr 13, 2020·Progress in Retinal and Eye Research·Frans P M CremersRando Allikmets
Apr 17, 2020·Fundamental & Clinical Pharmacology·Jinjin JiangJing Chen
Jun 15, 2020·Current Opinion in Genetics & Development·Thomas Gonatopoulos-Pournatzis, Benjamin J Blencowe
Aug 6, 2020·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Anjali VigElise Heon
Dec 15, 2020·Expert Opinion on Biological Therapy·Michael C GemayelThomas Ciulla
Jan 12, 2021·The Journal of Biological Chemistry·Jesse SundarVisvanathan Ramamurthy

Methods Mentioned

antisense oligonucleotides

Related Concepts

Homo sapiens
Structure of Ora Serrata of Retina
Retinal Diseases
Alternative Splicing
Genetic Diseases, Inborn
Gene Expression
Gene Therapy
Nerve Tissue

Related Feeds

Alternative splicing

Alternative splicing a regulated gene expression process that allows a single genetic sequence to code for multiple proteins. Here is that latest research.

© 2021 Meta ULC. All rights reserved