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Lookup NU author(s): Dr Carla Jackson, Dr Roman BauerORCiD, Dr Joseph Collin, Dr Birthe HilgenORCiD, Dr Darin Zerti, Dr David Dolan, Dr Osagie Izuogu, Min Yu, Dr Dean Hallam, Dr Jannetta Steyn, Dr Kathryn White, David Steel, Dr Mauro Santibanez Koref, Professor David Elliott, Dr Michael Jackson, Emerita Professor Susan Lindsay, Professor Majlinda LakoORCiD
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
The scarcity of embryonic/fetal material as a resource for direct study means that there is still limited understanding of human retina development. Herein, we present an integrated transcriptome analysis combined with immunohistochemistry in human eye and retinal samples from 4 to 19 post conception weeks. This analysis reveals three developmental windows with specific gene expression patterns which informed the sequential emergence of retinal cell types and enabled identification of stage-specific cellular and biological processes and transcriptional regulators. Each stage is characterised by a specific set of alternatively spliced transcripts which code for proteins involved in the formation of the photoreceptor connecting cilium, pre-mRNA splicing and epigenetic modifiers. Importantly, our data show that the transition from foetal to adult retina is characterised by a large increase in the percentage of mutually exclusive exons which code for proteins involved in photoreceptor maintenance. The circular RNA population is also defined and shown to increase during retinal development. Collectively these data increase our understanding of human retinal development, pre-mRNA splicing process, staging pluripotent stem cell-derived retinal organoids and identifying new candidate disease genes.
Author(s): Mellough CB, Bauer R, Collin J, Dorgau B, Zert D, Dolan D, Jones C, Izuogu OG, Yu M, Hallam D, Steyn J, White K, Steel DH, Santibanez-Koref M, Elliott DJ, Jackson M, Lindsay S, Magaraja-Grellscheid S, Lako M
Publication type: Article
Publication status: Published
Journal: Development
Year: 2019
Volume: 146
Issue: 2
Online publication date: 29/01/2019
Acceptance date: 24/12/2018
Date deposited: 04/01/2019
ISSN (print): 0950-1991
ISSN (electronic): 1477-9129
Publisher: Company of Biologists Ltd
URL: https://doi.org/10.1242/dev.169474
DOI: 10.1242/dev.169474
PubMed id: 30696714
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