# Trp63 in limbal stem cell deficiency

> **NIH NIH R21** · EAST CAROLINA UNIVERSITY · 2020 · $174,516

## Abstract

Project Summary
The transcription factor TP63 (human)/Trp63 (mouse), referred to as “p63” in this application, is a key
regulator for the development of stratified epithelia. Mice that completely lack p63 expression fail to
develop stratified epithelia, including the corneal epithelium. However, p63 is also required to maintain
and repair stratified epithelia postnatally. This is underscored by the clinical phenotype of patients
suffering from ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome [EEC; OMIM #604292], a
disorder caused by mutations in the p63 gene. EEC patients develop limbal stem cell deficiency (LSCD), a
condition that is characterized by progressive corneal erosions, corneal conjunctivalization, and ultimate
loss of vision. Besides a clear causal link between p63 abnormalities and LSCD, essentially nothing is
known regarding the molecular and cellular mechanisms that underlie the mutant p63-dependent
pathology. Further, it is not known which cell compartment(s) in the eye are affected by EEC. We
hypothesize that normal p63 function is required to maintain limbal stem cells (LSC) and to drive proper
differentiation of these cells into corneal epithelial cells. To test this hypothesis, we propose to use a
combination of genetically engineered mouse models and in vitro cell culture models to identify mutant
p63-controlled gene regulatory pathways in the ocular epithelium. This approach will not only advance
basic knowledge of cornea epithelial stem cell biology, it will also point to molecular pathways that could
be targeted therapeutically in patients suffering from LSCD caused by impaired p63 function.

## Key facts

- **NIH application ID:** 9986767
- **Project number:** 5R21EY029081-03
- **Recipient organization:** EAST CAROLINA UNIVERSITY
- **Principal Investigator:** Peter J. Koch
- **Activity code:** R21 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $174,516
- **Award type:** 5
- **Project period:** 2019-08-01 → 2023-07-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9986767

## Citation

> US National Institutes of Health, RePORTER application 9986767, Trp63 in limbal stem cell deficiency (5R21EY029081-03). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/9986767. Licensed CC0.

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