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Full Length Article | Open Access

Dynamic human retinal pigment epithelium (RPE) and choroid architecture based on single-cell transcriptomic landscape analysis

Lulin Huanga,b,, Lin Yea, Runze Lia, Shanshan Zhanga, Chao Quc, Shujin Lia, Jie Lic, Mu Yanga, Biao Wud, Ran Chend, Guo Huanga, Bo Gonga, Zheng Lia, Hongjie Yange, Man Yuc, Yi Shia, Changguan Wangf, Wei Chend, Zhenglin Yanga,b( )
Sichuan Provincial Key Laboratory for Human Disease Gene Study, Center for Medical Genetics, Sichuan Provincial People’s Hospital, University of Electronic Science and Technology of China, Chengdu, Sichuan 610072, China
Research Unit for Blindness Prevention of Chinese Academy of Medical Sciences (2019RU026), Sichuan Academy of Medical Sciences, Chengdu, Sichuan 610072, China
Department of Ophthalmology, Sichuan Provincial People’s Hospital, University of Electronic Science and Technology of China, Chengdu, Sichuan 610072, China
School of Ophthalmology and Optometry, Wenzhou Medical College, Wenzhou, Zhejiang 325035, China
Department of Organ Transplant Center, Sichuan Provincial People’s Hospital, University of Electronic Science and Technology of China, Chengdu, Sichuan 610072, China
Department of Ophthalmology, Peking University Third Hospital, Beijing 100730, China

Peer review under responsibility of Chongqing Medical University.

Show Author Information

Abstract

The retinal pigment epithelium (RPE) and choroid are located behind the human retina and have multiple functions in the human visual system. Knowledge of the RPE and choroid cells and their gene expression profiles are fundamental for understanding retinal disease mechanisms and therapeutic strategies. Here, we sequenced the RNA of about 0.3 million single cells from human RPE and choroids across two regions and seven ages, revealing regional and age differences within the human RPE and choroid. Cell–cell interactions highlight the broad connectivity networks between the RPE and different choroid cell types. Moreover, the transcription factors and their target genes change during aging. The coding of somatic variations increases during aging in the human RPE and choroid at the single-cell level. Moreover, we identified ELN as a candidate for improving RPE degeneration and choroidal structure during aging. The mapping of the molecular architecture of the human RPE and choroid improves our understanding of the human vision support system and offers potential insights into the intervention targets for retinal diseases.

Keywords

AgingHumanscRNA-seqRPEChoroidELN

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Genes & Diseases
Volume 10 Issue 6,
November 2023
Pages 2540-2556
DOI: 10.1016/j.gendis.2022.11.007
Cite this article:
Huang L, Ye L, Li R, et al. Dynamic human retinal pigment epithelium (RPE) and choroid architecture based on single-cell transcriptomic landscape analysis. Genes & Diseases, 2023, 10(6): 2540-2556. https://doi.org/10.1016/j.gendis.2022.11.007

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Received: 24 November 2021
Revised: 24 October 2022
Accepted: 02 November 2022
Published: 15 December 2022
© 2023 The Authors.

This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
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