Role of p63 and the Notch pathway in cochlea development and sensorineural deafness.

Journal article

The ectodermal dysplasias are a group of inherited autosomal dominant syndromes associated with heterozygous mutations in the Tumor Protein p63 (TRP63) gene. Here we show that, in addition to their epidermal pathology, a proportion of these patients have distinct levels of deafness. Accordingly, p63 null mouse embryos show marked cochlea abnormalities, and the transactivating isoform of p63 (TAp63) protein is normally found in the organ of Corti. TAp63 transactivates hairy and enhancer of spl...

Expand abstract

Authors: Terrinoni, A; Serra, V; Bruno, E; Strasser, A; Valente, E

• Publication status: Published
• Journal: Proceedings of the National Academy of Sciences of the United States of America
• Volume: 110
• Issue: 18
• Pages: 7300-7305
• Publication date: 2013-04-01
• DOI: 10.1073/pnas.1214498110
• EISSN: 1091-6490
• ISSN: 0027-8424
• Language: English
• Keywords: Cochlea; Animals; Repressor Proteins; Mice, Inbred C57BL; Basic Helix-Loop-Helix Transcription Factors; Signal Transduction; Receptors, Notch; Mice; Tumor Suppressor Proteins; Proto-Oncogene Proteins c-bcl-2; Ectodermal Dysplasia; Apoptosis Regulatory Proteins; Phosphoproteins; Promoter Regions, Genetic; Protein Isoforms; Humans; Trans-Activators; Mice, Knockout; Deafness; Hearing Loss, Sensorineural