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- W4220804557 abstract "Cis-regulatory elements (CREs) play a critical role in the development and disease-states of all human cell types. In the retina, CREs have been implicated in several inherited disorders. To better characterize human retinal CREs, we performed single-nucleus assay for transposase-accessible chromatin sequencing (snATAC-seq) and single-nucleus RNA sequencing (snRNA-seq) on the developing and adult human retina and on induced pluripotent stem cell (iPSC)-derived retinal organoids. These analyses identified developmentally dynamic, cell-class-specific CREs, enriched transcription-factor-binding motifs, and putative target genes. CREs in the retina and organoids are highly correlated at the single-cell level, and this supports the use of organoids as a model for studying disease-associated CREs. As a proof of concept, we disrupted a disease-associated CRE at 5q14.3, confirming its principal target gene as the miR-9-2 primary transcript and demonstrating its role in neurogenesis and gene regulation in mature glia. This study provides a resource for characterizing human retinal CREs and showcases organoids as a model to study the function of CREs that influence development and disease." @default.
- W4220804557 created "2022-04-03" @default.
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- W4220804557 date "2022-03-01" @default.
- W4220804557 modified "2023-10-15" @default.
- W4220804557 title "Cell-specific cis-regulatory elements and mechanisms of non-coding genetic disease in human retina and retinal organoids" @default.
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- W4220804557 doi "https://doi.org/10.1016/j.devcel.2022.02.018" @default.
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- W4220804557 hasPublicationYear "2022" @default.
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