Department of Experimental Medicine, TOR, University of Rome Tor Vergata, 00133, Rome, Italy.
Department of Experimental Medicine, TOR, University of Rome Tor Vergata, 00133, Rome, Italy; Biochemistry Laboratory, Istituto Dermopatico Immacolata (IDI-IRCCS), 00100, Rome, Italy.
Biochem Biophys Res Commun. 2022 Jun 25;610:15-22. doi: 10.1016/j.bbrc.2022.04.022. Epub 2022 Apr 9.
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.
转录因子 p63 属于 p53 家族，被认为是表皮分化、皮肤以及一般外胚层组织分化的主调控因子。TP63 基因突变导致几种罕见的外胚层发育不良疾病，这些疾病涉及表皮结构异常和眼表面疾病，如并指（趾）-外胚层发育不良-裂腭（EEC）综合征。在这篇综述中，我们讨论了 p63 在角质形成细胞和角膜上皮分化中的关键作用，强调了 ΔNp63α 异构体在驱动角膜缘干细胞和上皮干细胞分化中的作用。我们总结了源自 TP63 基因突变的 EEC 综合征中观察到的特定眼部表型，讨论了 EEC 综合征眼部表现的当前和新的治疗策略。
