Isoform-specific roles of mutant p63 in human diseases

  • The p63 gene encodes a master regulator of epidermal commitment, development, and differentiation. Heterozygous mutations in the DNA binding domain cause Ectrodactyly, Ectodermal Dysplasia, characterized by limb deformation, cleft lip/palate, and ectodermal dysplasia while mutations in in the C-terminal domain of the α-isoform cause Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome, a life-threatening disorder characterized by skin fragility, severe, long-lasting skin erosions, and cleft lip/palate. The molecular disease mechanisms of these syndromes have recently become elucidated and have enhanced our understanding of the role of p63 in epidermal development. Here we review the molecular cause and functional consequences of these p63-mutations for skin development and discuss the consequences of p63 mutations for female fertility.

Download full text files

Export metadata

Author:Christian Osterburg, Susanne Gabriele Osterburg, Huiqing Zhou, Caterina Missero, Volker DötschORCiDGND
Parent Title (English):Cancers
Place of publication:Basel
Document Type:Article
Date of Publication (online):2021/01/31
Date of first Publication:2021/01/31
Publishing Institution:Universitätsbibliothek Johann Christian Senckenberg
Release Date:2021/07/16
Tag:AEC syndrome; EEC syndrome; aggregation; chromatin remodeling; enhancer; epidermis; fertility; p63; stratified epithelial tissues; transcriptional regulation
Issue:3, art. 536
Page Number:18
First Page:1
Last Page:18
Institutes:Biochemie, Chemie und Pharmazie / Biochemie und Chemie
Dewey Decimal Classification:5 Naturwissenschaften und Mathematik / 57 Biowissenschaften; Biologie / 570 Biowissenschaften; Biologie
6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit
Open-Access-Publikationsfonds:Biochemie, Chemie und Pharmazie
Licence (German):License LogoCreative Commons - Namensnennung 4.0