p63 in corneal and epidermal differentiation

Biochem Biophys Res Commun. 2022 Jun 25:610:15-22. doi: 10.1016/j.bbrc.2022.04.022. Epub 2022 Apr 9.

Authors

Flavia Novelli¹, Carlo Ganini², Gerry Melino³, Carlo Nucci⁴, Yuyi Han⁵, Yufang Shi⁶, Ying Wang⁷, Eleonora Candi⁸

Affiliations

¹ Department of Experimental Medicine, TOR, University of Rome Tor Vergata, 00133, Rome, Italy. Electronic address: flavia_novelli@yahoo.it.
² Department of Experimental Medicine, TOR, University of Rome Tor Vergata, 00133, Rome, Italy; Biochemistry Laboratory, Istituto Dermopatico Immacolata (IDI-IRCCS), 00100, Rome, Italy. Electronic address: carlo.ganini@gmail.com.
³ Department of Experimental Medicine, TOR, University of Rome Tor Vergata, 00133, Rome, Italy. Electronic address: melino@uniroma2.it.
⁴ Department of Experimental Medicine, TOR, University of Rome Tor Vergata, 00133, Rome, Italy. Electronic address: nucci@med.uniroma2.it.
⁵ The First Affiliated Hospital of Soochow University and State Key Laboratory of Radiation, Medicine and Protection, Institutes for Translational Medicine, Soochow University, 199 Renai Road, Suzhou, Jiangsu, 215123, China. Electronic address: lalalayuyi@163.com.
⁶ Department of Experimental Medicine, TOR, University of Rome Tor Vergata, 00133, Rome, Italy; CAS Key Laboratory of Tissue Microenvironment and Tumor, Shanghai Institute of Nutrition and Health, Shanghai Institutes for Biological Sciences, University of Chinese, Academy of Sciences, Chinese Academy of Sciences, 320 Yueyang Road, Shanghai, 200031, China; The First Affiliated Hospital of Soochow University and State Key Laboratory of Radiation, Medicine and Protection, Institutes for Translational Medicine, Soochow University, 199 Renai Road, Suzhou, Jiangsu, 215123, China. Electronic address: yufangshi@sibs.ac.cn.
⁷ CAS Key Laboratory of Tissue Microenvironment and Tumor, Shanghai Institute of Nutrition and Health, Shanghai Institutes for Biological Sciences, University of Chinese, Academy of Sciences, Chinese Academy of Sciences, 320 Yueyang Road, Shanghai, 200031, China. Electronic address: yingwang@sibs.ac.cn.
⁸ Department of Experimental Medicine, TOR, University of Rome Tor Vergata, 00133, Rome, Italy; Biochemistry Laboratory, Istituto Dermopatico Immacolata (IDI-IRCCS), 00100, Rome, Italy. Electronic address: candi@uniroma2.it.

PMID: 35430447
DOI: 10.1016/j.bbrc.2022.04.022

Abstract

The transcription factor p63, belonging to the p53 family, is considered the master regulator of epidermal differentiation, skin, and in general of the differentiation of ectodermal tissues. Mutations in TP63 gene cause several rare ectodermal dysplasia disorders that refers to epidermal structural abnormalities and ocular surface disease, such as Ectrodactyly Ectodermal Dysplasia Clefting (EEC) syndrome. In this review, we discuss the key roles of p63 in keratinocytes and corneal epithelial differentiation, highlighting the function of the ΔNp63α isoform in driving limbal stem cell and epithelial stem cells commitment. We have summarized the specific ocular phenotypes observed in the TP63-mutation derived EEC syndrome, discussing the current and novel therapeutic strategies for the management of the ocular manifestations in EEC syndrome.

Keywords: Ectodermal dysplasia; Epithelia; Eye; Keratinocytes; Limbal stem cell; Skin; p63.

Publication types

Review
Research Support, Non-U.S. Gov't

MeSH terms

Cleft Lip* / drug therapy
Cleft Palate* / drug therapy
Ectodermal Dysplasia* / drug therapy
Ectodermal Dysplasia* / genetics
Humans
Transcription Factors / chemistry
Transcription Factors / genetics

Substances

Transcription Factors

Supplementary concepts

Ectrodactyly-cleft lip-palate syndrome