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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 M. 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. Proceedings of the National Academy of Sciences of the United States of America, 119 (29). Art. No. e2200914119. ISSN 0027-8424. doi:10.1073/pnas.2200914119.

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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 disorders, including glaucoma and cataract, are among the most prevalent causes of blindness in the world. To characterize the cell types that compose these tissues, we generated an anterior segment cell atlas of the human eye using high-throughput single-nucleus RNA sequencing (snRNAseq). We profiled 195,248 nuclei from nondiseased anterior segment tissues of six human donors, identifying >60 cell types. Many of these cell types were discrete, whereas others, especially in the 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 a 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 through either Mendelian inheritance patterns or genome-wide association studies.

Item Type:Article
Related URLs:
URLURL TypeDescription ItemDiscussion paper
van Zyl, Tavé0000-0003-2982-9894
Monavarfeshani, Aboozar0000-0001-8906-5115
Hageman, Gregory S.0000-0001-6360-829X
Sanes, Joshua R.0000-0001-8926-8836
Additional Information:This work was supported by grants from the NIH (5K12EY016335, EY028633, and U01 MH105960); the Chan-Zuckerberg Initiative (CZF-2019-002459); 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, Maria Diaz de la Loza for the superb illustrations, and the tissue donors and their families for their generosity.
Funding AgencyGrant Number
NIHU01 MH105960
Chan-Zuckerberg InitiativeCZF-2019-002459
Massachusetts Institute of Technology (MIT)UNSPECIFIED
Harvard UniversityUNSPECIFIED
Research to Prevent BlindnessUNSPECIFIED
Sharon Eccles Steele Center for Translational MedicineUNSPECIFIED
Issue or Number:29
Record Number:CaltechAUTHORS:20220923-942175700.15
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Usage Policy:No commercial reproduction, distribution, display or performance rights in this work are provided.
ID Code:117129
Deposited By: Melissa Ray
Deposited On:04 Oct 2022 14:10
Last Modified:04 Oct 2022 14:10

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