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An integrated transcriptional analysis of the developing human retina

Mellough, Carla B.; Bauer, Roman; Collin, Joseph; Dorgau, Birthe; Zerti, Darin; Dolan, David W.P.; Jones, Carl M.; Izuogu, Osagie G.; Yu, Min; Hallam, Dean; Steyn, Jannetta S.; White, Kathryn; Steel, David H.; Santibanez-Koref, Mauro; Elliott, David J.; Jackson, Michael S.; Lindsay, Susan; Grellscheid, Sushma; Lako, Majlinda

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Authors

Carla B. Mellough

Roman Bauer

Joseph Collin

Birthe Dorgau

Darin Zerti

Carl M. Jones

Osagie G. Izuogu

Min Yu

Dean Hallam

Jannetta S. Steyn

Kathryn White

David H. Steel

Mauro Santibanez-Koref

David J. Elliott

Michael S. Jackson

Susan Lindsay

Majlinda Lako



Abstract

The scarcity of embryonic/foetal material as a resource for direct study means that there is still limited understanding of human retina development. Here, 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 that 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 that 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 that 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 and the pre-mRNA splicing process, and help to identify new candidate disease genes.

Citation

Mellough, C. B., Bauer, R., Collin, J., Dorgau, B., Zerti, D., Dolan, D. W., …Lako, M. (2019). An integrated transcriptional analysis of the developing human retina. Development, 146(2), Article dev169474. https://doi.org/10.1242/dev.169474

Journal Article Type Article
Acceptance Date Dec 24, 2018
Online Publication Date Jan 29, 2019
Publication Date Jan 15, 2019
Deposit Date Feb 14, 2019
Publicly Available Date Feb 15, 2019
Journal Development.
Print ISSN 0950-1991
Electronic ISSN 1477-9129
Publisher The Company of Biologists
Peer Reviewed Peer Reviewed
Volume 146
Issue 2
Article Number dev169474
DOI https://doi.org/10.1242/dev.169474

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Publisher Licence URL
http://creativecommons.org/licenses/by/4.0/

Copyright Statement
© 2019. Published by The Company of Biologists Ltd http://creativecommons.org/licenses/by/4.0
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution and reproduction in any medium provided that the original work is properly attributed.





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