PAX6 Deficiency Compromises the Ability of Limbal Epithelial Stem Cells to Properly Differentiate Into Mature Corneal Epithelial Cells.

ABSTRACT:

Purpose

Aniridia, driven by PAX6 mutations, causes aniridia-associated keratopathy (AAK), a progressive condition linked to limbal stem cell deficiency. A major hurdle to developing targeted therapies for AAK is the incomplete understanding of the molecular abnormalities in affected corneas. To address this, we leveraged Pax6± (Pax6 het) mice, a model of AAK, and applied single-cell RNA sequencing (scRNA-seq) to profile the transcriptomic changes at a single-cell resolution.

Methods

ScRNA-seq of corneal/limbal tissues of wild type (WT) and Pax6 het mice were conducted. Immunostaining was performed to examine the expression of specific markers for stem cells.

Results

ScRNA-seq identified a quiescent limbal epithelial stem cell (LESC)-like cell cluster and an early tran

SUBMITTER: Foroozandeh P 

PROVIDER: S-EPMC12859707 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature