June 2023
Volume 64, Issue 8
Open Access
ARVO Annual Meeting Abstract  |   June 2023
Multiomic mapping of RPE development resolves lineage branch points and identifies disease loci
Author Affiliations & Notes
  • Robert B. Hufnagel
    National Eye Institute, Bethesda, Maryland, United States
  • Footnotes
    Commercial Relationships   Robert Hufnagel None
  • Footnotes
    Support  NEI/NIH ZIAEY000564, ZIAEY000565
Investigative Ophthalmology & Visual Science June 2023, Vol.64, 1281. doi:
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      Robert B. Hufnagel; Multiomic mapping of RPE development resolves lineage branch points and identifies disease loci. Invest. Ophthalmol. Vis. Sci. 2023;64(8):1281.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Presentation Description : Retinal pigment epithelium (RPE) derived from pluripotent stem cells in vitro is a valuable model to study human RPE development as well as the pathobiology of ocular diseases associated with RPE dysfunction. However, a comprehensive knowledge of the chromatin architecture and gene regulatory networks underlying cell state transitions from pluripotent stem cells to lineage restricted RPE is still needed. Here, we map the landscape of chromatin architecture and transcriptomic changes across informative time points during human RPE differentiation. Through integrated analysis of single cell transcriptome and chromatin accessibility sequencing, we dissect the lineage trajectories of RPE differentiation and resolve RPE fate. Furthermore, 3D chromatin profiling using HiC confirms the changing regulatory landscape of RPE differentiation and detects cis-regulatory interactions with target genes. Our comprehensive chromatin and transcriptome atlas of human RPE differentiation provides a genome regulatory map for deciphering RPE differentiation and identifying pathogenic variation for rare eye diseases.

This abstract was presented at the 2023 ARVO Annual Meeting, held in New Orleans, LA, April 23-27, 2023.

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