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A single-cell transcriptome atlas of the adult human retina

journal contribution
posted on 2023-05-20, 06:45 authored by Lukowski, SW, Lo, CY, Sharov, AA, Nguyen, Q, Fang, L, Hung, SSC, Zhu, L, Zhang, T, Grunert, U, Nguyen, T, Senabouth, A, Jabbari, JS, Welby, E, Sowden, JC, Waugh, HS, Mackey, A, Pollock, G, Lamb, TD, Wang, P-Y, Alexander HewittAlexander Hewitt, Gillies, MC, Powell, JE, Wong, RCB
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.

History

Publication title

The EMBO Journal

Volume

38

Issue

18

Article number

e100811

Number

e100811

Pagination

1-15

ISSN

0261-4189

Department/School

Menzies Institute for Medical Research

Publisher

Oxford Univ Press

Place of publication

Great Clarendon St, Oxford, England, Ox2 6Dp

Rights statement

Copyright 2019 The Authors

Repository Status

  • Restricted

Socio-economic Objectives

Clinical health not elsewhere classified

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