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Pax6 isoforms shape eye development: Insights from developmental stages and organoid models
Shih-Shun Hung1, Po-Sung Tsai1, Ching-Wen Po2
1Institute of Anatomy and Cell Biology, School of Medicine, National Yang Ming Chiao Tung University, No. 155, Sec. 2, Linong St., Beitou Dist, Taipei, 11221, Taiwan.
Differentiation; Research in Biological Diversity
|April 17, 2024
Summary
Pax6 isoforms, Pax6a and Pax6b, play distinct roles in eye development. Pax6a is linked to neuroretina development, while Pax6b is crucial for iris formation, as shown in mouse models and eye organoids.
Area of Science:
- Developmental Biology
- Genetics
- Ophthalmology
Background:
- Pax6 is essential for central nervous system development, but human mutations primarily cause iris deficiency.
- Distinct functions of Pax6 isoforms, Pax6a and Pax6b, may explain this discrepancy.
- Understanding Pax6 isoform roles is key to deciphering eye development and related disorders.
Purpose of the Study:
- To investigate the spatial and temporal expression of Pax6 isoforms during mouse eye development.
- To elucidate the specific roles of Pax6a and Pax6b in neuroretina and iris development.
- To validate findings using embryonic stem cell (ESC)-derived eye organoids.
Main Methods:
- Analysis of Pax6 isoform expression patterns in mouse embryos at various developmental stages (E10.5, E14.5, E18.5).
- Correlation analysis of Pax6 isoform expression with key developmental genes (Sox2, Foxc1, Mitf).
- Utilizing ESC-derived eye organoids to model normal and mutant eye development.
Main Results:
- Pax6a expression correlates with neuroretina gene Sox2; Pax6b correlates with iris genes like Foxc1.
- Pax6b is initially expressed in optic cup hinge and mesenchyme, while Pax6a is absent.
- ESC-derived eye organoids recapitulated expression patterns and showed impaired Foxc1 and Mitf in Pax6b mutants, implicating Pax6b in iris development.
Conclusions:
- Pax6 isoforms exhibit distinct expression patterns and functions during eye development.
- Pax6b plays a critical role in iris development, potentially involving local mesodermal cells.
- ESC-derived eye organoids are a valuable model for studying eye development and diseases.
