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An integrated transcriptional analysis of the developing human retina

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.

Publication metadata

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


DOI: 10.1242/dev.169474

PubMed id: 30696714


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Funder referenceFunder name
Biotechnology and Biological Sciences Research Council
Medical Research Council (grants MR/N015037/1, MR/M008886/1 and MC_PC_15030