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A single-cell transcriptome atlas of the adult human retina


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, Muller 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 Muller 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.

Type Journal
ISBN 0261-4189
Authors Lukowski, S. W.; Lo, C. Y.; Sharov, A. A.; Nguyen, Q.; Fang, L.; Hung, S. S.; Zhu, L.; Zhang, T.; Grunert, U.; Nguyen, T.; Senabouth, A.; Jabbari, J. S.; Welby, E.; Sowden, J. C.; Waugh, H. S.; Mackey, A.; Pollock, G.; Lamb, T. D.; Wang, P. Y.; Hewitt, A. W.; Gillies, M. C.; Powell, J. E.; Wong, R. C.
Responsible Garvan Author Prof Joseph Powell
Publisher Name EMBO JOURNAL
Published Date 2019-09-16
Published Volume 38
Published Issue 18
Published Pages e100811
Status Always Electronic
DOI 10.15252/embj.2018100811
OpenAccess link to author's accepted manuscript version