Loss of FOXC1 contributes to the corneal epithelial fate switch and pathogenesis

• DOI: 10.1038/s41392-020-00378-2
• Publication Date: 2021-01-07T23:03:46Z
• Authors: Mingsen Li; Liqiong Zhu; Jiafeng Liu; Huaxing Huang; Huizhen Guo; Li Wang; Lingyu Li; Sijie Gu; Jieying Tan; Jing Zhong; Bowen Wang; Zhen Mao; Yong Fan; Chunqiao Liu; Jin Yuan; Hong Ouyang
• Keywords: PAX6

Abstract Forkhead box C1 (FOXC1) is required for neural crest and ocular development, mutations in FOXC1 lead to inherited Axenfeld–Rieger syndrome. Here, we find that paired 6 (PAX6) are co-expressed the human limbus central corneal epithelium. Deficiency of alternation epithelial features occur patients with ulcers. governs fate epithelium by directly binding lineage-specific open promoters or enhancers marked H3K4me2. depletion not only activates keratinization pathway reprograms cells into skin-like cells, but also disrupts collagen metabolic process interferon signaling pathways. Loss regulatory factor 1 PAX6 induced dysfunction linked ulcer. Collectively, our results reveal a FOXC1-mediated network responsible homeostasis provide potential therapeutic target