Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: van Zyl, Tavé, Yan, Wenjun, McAdams, Alexi M., Monavarfeshani, Aboozar, Hageman, Gregory S., Sanes, Joshua R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: National Academy of Sciences 2022
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
_version_ 1784751987750862848
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
work_keys_str_mv AT vanzyltave cellatlasofthehumanocularanteriorsegmenttissuespecificandsharedcelltypes
AT yanwenjun cellatlasofthehumanocularanteriorsegmenttissuespecificandsharedcelltypes
AT mcadamsalexim cellatlasofthehumanocularanteriorsegmenttissuespecificandsharedcelltypes
AT monavarfeshaniaboozar cellatlasofthehumanocularanteriorsegmenttissuespecificandsharedcelltypes
AT hagemangregorys cellatlasofthehumanocularanteriorsegmenttissuespecificandsharedcelltypes
AT sanesjoshuar cellatlasofthehumanocularanteriorsegmenttissuespecificandsharedcelltypes