IRP study shows how genes in retina get regulated during development

Wednesday, December 13, 2023

Genome topology map of human retina development lays foundation for understanding diverse clinical phenotypes in simple and complex eye diseases

Researchers at the National Institutes of Health have mapped the 3D organization of genetic material of key developmental stages of human retinal formation, using intricate models of a retina grown in the lab. The findings lay a foundation for understanding clinical traits in many eye diseases, and reveal a highly dynamic process by which the architecture of chromatin, the DNA and proteins that form chromosomes, regulates gene expression. The findings were published in Cell Reports.

“These results provide insights into the heritable genetic landscape of the developing human retina, especially for the most abundant cell types that are commonly associated with vision impairment in retinal diseases,” said the study’s lead investigator, Anand Swaroop, Ph.D., chief of the Neurobiology, Neurodegeneration, and Repair Laboratory at the National Eye Institute (NEI), part of NIH.

Using deep Hi-C sequencing, a tool used for studying 3D genome organization, the researchers created a high-resolution map of chromatin in a human retinal organoid at five key points in development. Organoids are tissue models grown in a lab and engineered to replicate the function and biology of a specific type of tissue in a living body.

This image metaphorically captures the cell differentiation process during retinal organoid development. Loose yarn representing uncompacted DNA is wound by a crochet hook around buttons representing nucleosomes and culminating in a tightly condensed ball of chromatin that forms an eye-like shape.