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Cell atlas of the human ocular anterior segment: Tissue-specific and shared cell types

van Zyl, Tavé and Yan, Wenjun and McAdams, Alexi and Monavarfeshani, Aboozar and Hageman, Gregory S. and Sanes, Joshua R. (2022) Cell atlas of the human ocular anterior segment: Tissue-specific and shared cell types. . (Unpublished)

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The anterior segment of the eye consists of the cornea, iris, ciliary body, crystalline lens and aqueous humor outflow pathways. Together, these tissues are essential for the proper functioning of the eye. Disorders of vision have been ascribed to defects in all of them; some, including glaucoma and cataract, are among the most prevalent causes of blindness in the world. To characterize the cell types that comprise these tissues, we generated an anterior segment cell atlas of the human eye using high throughput single-nucleus RNA sequencing (snRNAseq). We profiled 191,992 nuclei from non-diseased anterior segment tissues from 6 human donors, identifying >60 cell types. Many of these cell types were discrete, whereas others, especially in lens and cornea, formed continua corresponding to known developmental transitions that persist in adulthood. Having profiled each tissue separately, we performed an integrated analysis of the entire anterior segment revealing that some cell types are unique to single structure whereas others are shared across tissues. The integrated cell atlas was then used to investigate cell type-specific expression patterns of more than 900 human ocular disease genes identified either through Mendelian inheritance patterns or genome-wide association studies (GWAS).

Item Type:Report or Paper (Discussion Paper)
Related URLs:
URLURL TypeDescription Paper
van Zyl, Tavé0000-0003-2982-9894
Monavarfeshani, Aboozar0000-0001-8906-5115
Sanes, Joshua R.0000-0001-8926-8836
Additional Information:The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY-ND 4.0 International license. This work was supported by NIH (5K12EY016335, EY028633 and U01 MH105960), the Chan-Zuckerberg Initiative (CZF-2019-002459) and the Klarman Cell Observatory of the Broad Institute of MIT and Harvard, an unrestricted grant from Research to Prevent Blindness to the Department of Ophthalmology and Visual Sciences, University of Utah, and by charitable donations to the Sharon Eccles Steele Center for Translational Medicine. We thank Chris Pappas and Lisa Nichols for their efforts to acquire and process ocular tissues, and the tissue donors and their families for their generosity. Competing Interest Statement. T. van Zyl is an employee of Regeneron. J. Sanes is a consultant for Regeneron
Funding AgencyGrant Number
NIHU01 MH105960
Chan Zuckerberg InitiativeCZF-2019-002459
Broad Institute of MIT and HarvardUNSPECIFIED
Research to Prevent BlindnessUNSPECIFIED
Sharon Eccles Steele Center for Translational MedicineUNSPECIFIED
Subject Keywords:Cornea, Lens, Trabecular Meshwork, Ciliary Body, Iris
Record Number:CaltechAUTHORS:20220121-870672000
Persistent URL:
Official Citation:Cell atlas of the human ocular anterior segment: Tissue-specific and shared cell types Tave van Zyl, Wenjun Yan, Alexi McAdams, Aboozar Monavarfeshani, Gregory S. Hageman, Joshua R. Sanes bioRxiv 2022.01.19.476971; doi:
Usage Policy:No commercial reproduction, distribution, display or performance rights in this work are provided.
ID Code:113053
Deposited By: George Porter
Deposited On:21 Jan 2022 23:50
Last Modified:21 Jan 2022 23:50

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