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

Author:

van Zyl Tavé123,Yan Wenjun23,McAdams Alexi M.123,Monavarfeshani Aboozar234,Hageman Gregory S.56ORCID,Sanes Joshua R.23ORCID

Affiliation:

1. Department of Ophthalmology, Harvard Medical School, Boston, MA 02115

2. Center for Brain Science, Harvard University, Cambridge, MA 02138

3. Department of Molecular and Cellular Biology, Harvard University, Cambridge, MA 02138

4. Boston Children’s Hospital, F.M. Kirby Neurobiology Center, Boston, MA 02115

5. Sharon Eccles Steele Center for Translational Medicine, John A. Moran Eye Center, University of Utah, Salt Lake City, UT 84132

6. Department of Ophthalmology and Visual Sciences, University of Utah, Salt Lake City, UT 84132

Abstract

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.

Funder

HHS | NIH | National Eye Institute

HHS | NIH | National Institute of Mental Health

Chan-Zuckerberg Initiative

Research to Prevent Blindness

Publisher

Proceedings of the National Academy of Sciences

Subject

Multidisciplinary

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