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A single-cell transcriptome atlas of the adult human retina


Lukowski, SW and Lo, CY and Sharov, AA and Nguyen, Q and Fang, L and Hung, SSC and Zhu, L and Zhang, T and Grunert, U and Nguyen, T and Senabouth, A and Jabbari, JS and Welby, E and Sowden, JC and Waugh, HS and Mackey, A and Pollock, G and Lamb, TD and Wang, P-Y and Hewitt, AW and Gillies, MC and Powell, JE and Wong, RCB, A single-cell transcriptome atlas of the adult human retina, The EMBO Journal, 38, (18) Article e100811. ISSN 0261-4189 (2019) [Refereed Article]

Copyright Statement

Copyright 2019 The Authors

DOI: doi:10.15252/embj.2018100811


The retina is a specialized neural tissue that senses light and initiates image processing. Although the functional organization of specific retina cells has been well studied, the molecular profile of many cell types remains unclear in humans. To comprehensively profile the human retina, we performed single-cell RNA sequencing on 20,009 cells from three donors and compiled a reference transcriptome atlas. Using unsupervised clustering analysis, we identified 18 transcriptionally distinct cell populations representing all known neural retinal cells: rod photoreceptors, cone photoreceptors, Müller glia, bipolar cells, amacrine cells, retinal ganglion cells, horizontal cells, astrocytes, and microglia. Our data captured molecular profiles for healthy and putative early degenerating rod photoreceptors, and revealed the loss of MALAT1 expression with longer post-mortem time, which potentially suggested a novel role of MALAT1 in rod photoreceptor degeneration. We have demonstrated the use of this retina transcriptome atlas to benchmark pluripotent stem cell-derived cone photoreceptors and an adult Müller glia cell line. This work provides an important reference with unprecedented insights into the transcriptional landscape of human retinal cells, which is fundamental to understanding retinal biology and disease.

Item Details

Item Type:Refereed Article
Keywords:photoreceptor subtypes, retina, single-cell RNA sequencing, transcriptome
Research Division:Biomedical and Clinical Sciences
Research Group:Ophthalmology and optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical health
Objective Field:Clinical health not elsewhere classified
UTAS Author:Hewitt, AW (Professor Alex Hewitt)
ID Code:134697
Year Published:2019
Web of Science® Times Cited:84
Deposited By:Menzies Institute for Medical Research
Deposited On:2019-08-29
Last Modified:2020-09-04

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