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Identification of Evolutionarily Conserved VSX2 Enhancers in Retinal Development
Victoria Honnell1,2, Shannon Sweeney1, Jackie Norrie1
1Department of Developmental Neurobiology at St. Jude Children's Research Hospital, Memphis, Tennessee 38105, USA.
Biorxiv : the Preprint Server for Biology
|October 31, 2023
Summary
Distinct modules within the super-enhancer (SE) for Vsx2 regulate retinal development. These SE modules control gene expression crucial for eye cell identity and can rescue microphthalmia across species.
Area of Science:
- Genomics
- Developmental Biology
- Neuroscience
Background:
- Super-enhancers (SEs) are critical genomic regions regulating cell identity and fate.
- The Vsx2 gene, regulated by an SE, is essential for retinal progenitor cells, bipolar neurons, and Müller glia.
- Mutations in VSX2 cause microphthalmia, a defect in retinal progenitor cell proliferation.
Conclusions:
- Specific modules within the Vsx2 SE exhibit distinct, crucial roles in retinal development.
- The Vsx2 SE modules are conserved and functionally interchangeable across species, highlighting their importance in vertebrate eye development.
- This study provides a model for understanding how SEs regulate complex gene expression patterns and how their dysregulation contributes to disease.
