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Cell atlas of the human ocular anterior segment: Tissue-specific and shared cell types
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 g...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
National Academy of Sciences
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9303934/ https://www.ncbi.nlm.nih.gov/pubmed/35858321 http://dx.doi.org/10.1073/pnas.2200914119 |
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author | van Zyl, Tavé Yan, Wenjun McAdams, Alexi M. Monavarfeshani, Aboozar Hageman, Gregory S. Sanes, Joshua R. |
author_facet | van Zyl, Tavé Yan, Wenjun McAdams, Alexi M. Monavarfeshani, Aboozar Hageman, Gregory S. Sanes, Joshua R. |
author_sort | van Zyl, Tavé |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-9303934 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | National Academy of Sciences |
record_format | MEDLINE/PubMed |
spelling | pubmed-93039342023-01-15 Cell atlas of the human ocular anterior segment: Tissue-specific and shared cell types van Zyl, Tavé Yan, Wenjun McAdams, Alexi M. Monavarfeshani, Aboozar Hageman, Gregory S. Sanes, Joshua R. Proc Natl Acad Sci U S A Biological Sciences 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. National Academy of Sciences 2022-07-15 2022-07-19 /pmc/articles/PMC9303934/ /pubmed/35858321 http://dx.doi.org/10.1073/pnas.2200914119 Text en Copyright © 2022 the Author(s). Published by PNAS. https://creativecommons.org/licenses/by-nc-nd/4.0/This article is distributed under Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND) (https://creativecommons.org/licenses/by-nc-nd/4.0/) . |
spellingShingle | Biological Sciences van Zyl, Tavé Yan, Wenjun McAdams, Alexi M. Monavarfeshani, Aboozar Hageman, Gregory S. Sanes, Joshua R. Cell atlas of the human ocular anterior segment: Tissue-specific and shared cell types |
title | Cell atlas of the human ocular anterior segment: Tissue-specific and shared cell types |
title_full | Cell atlas of the human ocular anterior segment: Tissue-specific and shared cell types |
title_fullStr | Cell atlas of the human ocular anterior segment: Tissue-specific and shared cell types |
title_full_unstemmed | Cell atlas of the human ocular anterior segment: Tissue-specific and shared cell types |
title_short | Cell atlas of the human ocular anterior segment: Tissue-specific and shared cell types |
title_sort | cell atlas of the human ocular anterior segment: tissue-specific and shared cell types |
topic | Biological Sciences |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9303934/ https://www.ncbi.nlm.nih.gov/pubmed/35858321 http://dx.doi.org/10.1073/pnas.2200914119 |
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