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Vibratome Sectioning Mouse Retina to Prepare Photoreceptor Cultures

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Published on: December 22, 2014

Evolutionary conservation of VSX2 super-enhancer modules in retinal development.

Victoria Honnell¹, Shannon Sweeney¹, Jackie Norrie¹

¹Department of Developmental Neurobiology at St. Jude Children's Research Hospital, Memphis, TN 38105, USA.

Development (Cambridge, England)

|July 12, 2024

Summary

Super-enhancers (SEs) control cell identity. Human VSX2 SE modules show specific activity, rescuing microphthalmia in mice and revealing roles in retinal organoid development and bipolar neuron formation.

Keywords:

Organoid Retina Retinal development Super-enhancer

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Last Updated: Jun 21, 2025

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Area of Science:

Genomics
Developmental Biology
Ophthalmology

Background:

Super-enhancers (SEs) are crucial genomic regions regulating cell identity and fate.
Developmental stage- and cell type-specific modules within the murine Vsx2 SE were previously identified.

Purpose of the Study:

To investigate the function and conserved activity of human VSX2 SE modules in retinal development.
To model human retinal development and disease using stem cell-derived organoids.

Main Methods:

Reporter gene assays to assess human VSX2 SE module activity.
Gene editing (CRISPR-Cas9) to delete SE modules in human embryonic stem cells.
Generation of human retinal organoids for functional analysis.

Main Results:

Human VSX2 SE modules exhibit conserved developmental stage- and cell type-specific activity.
Insertion of a human VSX2 SE module rescued the microphthalmia phenotype in mice.
Deletion of specific modules in human retinal organoids led to reduced organoid size and impaired bipolar neuron development.

Conclusions:

The human VSX2 SE is a prototypical model for studying complex gene regulation in neurogenesis.
Dysregulation of VSX2 SE modules may contribute to human eye developmental disorders and phenotypic diversity.