A single-cell transcriptome atlas of the adult human retina. EMBO J 2019 Sep 16;38(18):e100811
Date
08/23/2019Pubmed ID
31436334Pubmed Central ID
PMC6745503DOI
10.15252/embj.2018100811Scopus ID
2-s2.0-85071225444 (requires institutional sign-in at Scopus site) 243 CitationsAbstract
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.
Author List
Lukowski SW, Lo CY, Sharov AA, Nguyen Q, Fang L, Hung SS, Zhu L, Zhang T, Grünert U, Nguyen T, Senabouth A, Jabbari JS, Welby E, Sowden JC, Waugh HS, Mackey A, Pollock G, Lamb TD, Wang PY, Hewitt AW, Gillies MC, Powell JE, Wong RCAuthor
Emily Welby Research Scientist II in the Cell Biology Neurobiology and Anatomy department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
AutopsyCluster Analysis
Databases, Genetic
Gene Expression Profiling
Gene Expression Regulation
Humans
Nerve Degeneration
Organ Specificity
RNA, Long Noncoding
Retina
Retinal Rod Photoreceptor Cells
Sequence Analysis, RNA
Single-Cell Analysis
Transcriptome
Unsupervised Machine Learning
