ArticleAmerican journal of medical genetics. Part A2009
Differential PERP regulation by TP63 mutants provides insight into AEC pathogenesis.
Article in American journal of medical genetics. Part A, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 31 citations in OpenAlex.
- Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome-Linked p63 Mutations Disrupt Keratinocyte Proliferation and Survival Through Oxidative Stress and Impaired Slc7a11 Expression.International journal of molecular sciences · 2025Article
- A Rare Case ofInternational journal of molecular sciences · 2024Article
- Effects of TP63 mutations on keratinocyte adhesion and migration.Experimental dermatology · 2023Article
- Article
- Clinical and Molecular Genetic Analysis of Cases with Ectodermal Dysplasia.Advances in experimental medicine and biology · 2023Article
- p63-related signaling at a glance.Journal of cell science · 2020Review
- Modeling AEC-New approaches to study rare genetic disorders.American journal of medical genetics. Part A · 2014Review
- Integrating animal models and in vitro tissue models to elucidate the role of desmosomal proteins in diseases.Cell communication & adhesion · 2014Review
- Transmembrane protein PERP is a component of tessellate junctions and of other junctional and non-junctional plasma membrane regions in diverse epithelial and epithelium-derived cells.Cell and tissue research · 2013Article
- p63 control of desmosome gene expression and adhesion is compromised in AEC syndrome.Human molecular genetics · 2013Article
- The evolution of human genetic studies of cleft lip and cleft palate.Annual review of genomics and human genetics · 2012Review
- Special AT-rich binding protein-2 (SATB2) differentially affects disease-causing p63 mutant proteins.The Journal of biological chemistry · 2011Article
- A symphony of regulations centered on p63 to control development of ectoderm-derived structures.Journal of biomedicine & biotechnology · 2011Review
- p63 in skin development and ectodermal dysplasias.The Journal of investigative dermatology · 2010Review
- International Research Symposium on Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) syndrome.American journal of medical genetics. Part A · 2009Article
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
Ankyloblepharon Ectodermal Dysplasia and Cleft Lip/Palate (AEC) or Hay-Wells Syndrome is an autosomal dominant disorder characterized by a variety of phenotypes in ectodermal derivatives, including severe skin erosions, ankyloblepharon, coarse and wiry hair, scalp dermatitis, and dystrophic nails. AEC is caused by mutations in the gene encoding the TP63 transcription factor, specifically in the Sterile Alpha Motif (SAM) domain. The exact mechanism, however, by which these specific TP63 mutations lead to the observed spectrum of phenotypes is unclear. Analysis of individual TP63 target genes provides a means to understand specific aspects of the phenotypes associated with AEC. PERP is a TP63 target critical for cell-cell adhesion due to its participation in desmosomal adhesion complexes. As PERP null mice display symptoms characteristic of ectodermal dysplasia syndromes, we hypothesized that PERP dysfunction might contribute to AEC. Using luciferase reporter assays, we demonstrate here that PERP induction is in fact compromised with some, but not all, AEC-patient derived TP63 mutants. Through analysis of skin biopsies from AEC patients, we show further that a subset of these display aberrant PERP expression, suggesting the possibility that PERP dysregulation is involved in the pathogenesis of this disease. These findings demonstrate that distinct AEC TP63 mutants can differentially compromise expression of downstream targets, providing a rationale for the variable spectra of symptoms seen in AEC patients. Elucidating how specific TP63 target genes contribute to the pathogenesis of AEC will ultimately help design novel approaches to diagnose and treat AEC.
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