# Analysis of OTX2, PAX6, and SOX2 Gene and Protein Expression Patterns in Ocular Development of Human and Rat Embryos

**Authors:** Anna Junga, Mara Pilmane, Pavlo Fedirko

PMC · DOI: 10.3390/ijms262210845 · International Journal of Molecular Sciences · 2025-11-08

## TL;DR

This study compares gene and protein expression patterns of OTX2, PAX6, and SOX2 in human and rat embryos to understand their roles in eye development.

## Contribution

The study reveals spatial differences between gene transcripts and protein distributions in ocular tissues, highlighting complex regulatory mechanisms.

## Key findings

- OTX2, PAX6, and SOX2 transcripts are predominantly localized to the retina in both human and rat embryos.
- Proteins show broader distributions, with Otx2 abundant in the retina and eyelid, and Pax6 and Sox2 detected in multiple tissues like cornea and extraocular muscles.
- The findings highlight spatial differences between transcript and protein localization, indicating a complex regulatory framework for eye development.

## Abstract

Transcription factors orthodenticle homeobox 2 gene (OTX2), paired box 6 gene (PAX6), and SRY-box transcription factor 2 gene (SOX2) are key regulators of ocular morphogenesis; however, their comparative embryonic localization across species—and the correspondence between transcript and protein distributions—remain incompletely defined. Chromogenic in situ hybridization (CISH) was employed to detect OTX2, PAX6, and SOX2 transcripts, while biotin–streptavidin immunohistochemistry (IHC) was used to assess Otx2, Pax6, and Sox2 protein expression. A semi-quantitative scoring system was applied to evaluate positive structures across ocular compartments. Transcripts were predominantly localized to the retina in both species, with occasional low-level expression in the optic nerve, sclera, and eyelid. Proteins displayed broader distributions: Otx2 was abundant in the retina and eyelid, while Pax6 and Sox2 were detected in multiple tissues, including cornea and extraocular muscles. OTX2, PAX6, and SOX2 show retina-predominant transcription and wider protein expression across ocular tissues. These findings highlight spatial differences between transcript and protein localization, supporting a complex regulatory framework underlying vertebrate eye development.

## Linked entities

- **Genes:** OTX2 (orthodenticle homeobox 2) [NCBI Gene 5015], PAX6 (paired box 6) [NCBI Gene 5080], SOX2 (SRY-box transcription factor 2) [NCBI Gene 6657]
- **Proteins:** OTX2 (orthodenticle homeobox 2), PAX6 (paired box 6), SOX2 (SRY-box transcription factor 2)
- **Species:** Homo sapiens (taxon 9606), Rattus norvegicus (taxon 10116)

## Full-text entities

- **Genes:** SOX2 (SRY-box transcription factor 2) [NCBI Gene 6657] {aka ANOP3, MCOPS3}, OTX2 (orthodenticle homeobox 2) [NCBI Gene 5015] {aka CPHD6, MCOPS5}, PAX6 (paired box 6) [NCBI Gene 5080] {aka AN, AN1, AN2, ASGD5, D11S812E, FVH1}
- **Species:** Rattus norvegicus (brown rat, species) [taxon 10116], Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

9 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12652490/full.md

## References

44 references — full list in the complete paper: https://tomesphere.com/paper/PMC12652490/full.md

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Source: https://tomesphere.com/paper/PMC12652490