Journal article
Single-cell RNA sequencing in vision research: Insights into human retinal health and disease
Progress in retinal and eye research, Vol.83, 100934
12/28/2020
DOI: 10.1016/j.preteyeres.2020.100934
PMID: 33383180
Abstract
Gene expression provides valuable insight into cell function. As such, vision researchers have frequently employed gene expression studies to better understand retinal physiology and disease. With the advent of single-cell RNA sequencing, expression experiments provide an unparalleled resolution of information. Instead of studying aggregated gene expression across all cells in a heterogenous tissue, single-cell technology maps RNA to an individual cell, which facilitates grouping of retinal and choroidal cell types for further study. Single-cell RNA sequencing has been quickly adopted by both basic and translational vision researchers, and single-cell level gene expression has been studied in the visual systems of animal models, retinal organoids, and primary human retina, RPE, and choroid. These experiments have generated detailed atlases of gene expression and identified new retinal cell types. Likewise, single-cell RNA sequencing investigations have characterized how gene expression changes in the setting of many retinal diseases, including how choroidal endothelial cells are altered in age-related macular degeneration. In addition, this technology has allowed vision researcher to discover drivers of retinal development and model rare retinal diseases with induced pluripotent stem cells. In this review, we will overview the growing number of single-cell RNA sequencing studies in the field of vision research. We will summarize experimental considerations for designing single-cell RNA sequencing experiments and highlight important advancements in retinal, RPE, choroidal, and retinal organoid biology driven by this technology. Finally, we generalize these findings to genes involved in retinal degeneration and outline the future of single-cell expression experiments in studying retinal disease.
•Single-cell RNA sequencing allows for high resolution transcriptome profiling of heterogenous ocular tissues.•Post-mortem human donor eyes can be utilized for single-cell expression analysis and illustrate molecular differences between the fovea and periphery.•Distinct populations of choriocapillaris, arterial, and venous endothelial cells change their transcriptome in AMD and demonstrate high homology between humans and mice.•Single-cell RNA sequencing of patient-derived induced pluripotent stem cell models promotes discovery of new disease pathogenesis models.
Details
- Title: Subtitle
- Single-cell RNA sequencing in vision research: Insights into human retinal health and disease
- Creators
- Andrew P Voigt - Departments of Ophthalmology and Visual Sciences, The University of Iowa Carver College of Medicine, Iowa City, IA, 52242, USANathaniel K Mullin - Departments of Ophthalmology and Visual Sciences, The University of Iowa Carver College of Medicine, Iowa City, IA, 52242, USAEdwin M Stone - Departments of Ophthalmology and Visual Sciences, The University of Iowa Carver College of Medicine, Iowa City, IA, 52242, USABudd A Tucker - Departments of Ophthalmology and Visual Sciences, The University of Iowa Carver College of Medicine, Iowa City, IA, 52242, USATodd E Scheetz - Departments of Ophthalmology and Visual Sciences, The University of Iowa Carver College of Medicine, Iowa City, IA, 52242, USARobert F Mullins - Departments of Ophthalmology and Visual Sciences, The University of Iowa Carver College of Medicine, Iowa City, IA, 52242, USA
- Resource Type
- Journal article
- Publication Details
- Progress in retinal and eye research, Vol.83, 100934
- DOI
- 10.1016/j.preteyeres.2020.100934
- PMID
- 33383180
- NLM abbreviation
- Prog Retin Eye Res
- ISSN
- 1350-9462
- eISSN
- 1873-1635
- Publisher
- Elsevier Ltd
- Grant note
- DOI: 10.13039/100000009, name: Foundation for the National Institutes of Health
- Language
- English
- Date published
- 12/28/2020
- Academic Unit
- Roy J. Carver Department of Biomedical Engineering; Electrical and Computer Engineering; The University of Iowa Institute for Vision Research; Iowa Neuroscience Institute; Ophthalmology and Visual Sciences
- Record Identifier
- 9984071949102771
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