Publication Date

12-17-2019

Journal

Nature Communications

DOI

10.1038/s41467-019-12917-9

PMID

31848347

PMCID

PMC6917696

PubMedCentral® Posted Date

12-17-2019

PubMedCentral® Full Text Version

Post-print

Published Open-Access

yes

Keywords

Aged, Aged, 80 and over, Cell Nucleus, Female, Frozen Sections, Gene Expression Profiling, Healthy Volunteers, Humans, Male, Photoreceptor Cells, RNA-Seq, Single-Cell Analysis, Bioinformatics, Gene expression analysis, Genetics, Gene expression, Sequencing

Abstract

Single-cell RNA-seq is a powerful tool in decoding the heterogeneity in complex tissues by generating transcriptomic profiles of the individual cell. Here, we report a single-nuclei RNA-seq (snRNA-seq) transcriptomic study on human retinal tissue, which is composed of multiple cell types with distinct functions. Six samples from three healthy donors are profiled and high-quality RNA-seq data is obtained for 5873 single nuclei. All major retinal cell types are observed and marker genes for each cell type are identified. The gene expression of the macular and peripheral retina is compared to each other at cell-type level. Furthermore, our dataset shows an improved power for prioritizing genes associated with human retinal diseases compared to both mouse single-cell RNA-seq and human bulk RNA-seq results. In conclusion, we demonstrate that obtaining single cell transcriptomes from human frozen tissues can provide insight missed by either human bulk RNA-seq or animal models.

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