Homeobox gene Dlx3 is regulated by p63 during ectoderm development: Relevance in the pathogenesis of ectodermal dysplasias

Nadezda Radoja, Luisa Guerrini, Nadia L. Iacono, Giorgio R. Merlo, Antonio Costanzo, Wendy C. Weinberg, Girolama La Mantia, Viola Calabrò, Maria I. Morasso

Research output: Contribution to journalArticle

Abstract

Ectodermal dysplasias (EDs) are a group of human pathological conditions characterized by anomalies in organs derived from epithelial-mesenchymal interactions during development. Dlx3 and p63 act as part of the transcriptional regulatory pathways relevant in ectoderm derivatives, and autosomal mutations in either of these genes are associated with human EDs. However, the functional relationship between both proteins is unknown. Here, we demonstrate that Dlx3 is a downstream target of p63. Moreover, we show that transcription of Dlx3 is abrogated by mutations in the sterile α-motif (SAM) domain of p63 that are associated with ankyloblepharon-ectodermal dysplasia-clefting (AEC) dysplasias, but not by mutations found in ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC), Limb-mammary syndrome (LMS) and split hand-foot malformation (SHFM) dysplasias. Our results unravel aspects of the transcriptional cascade of events that contribute to ectoderm development and pathogenesis associated with p63 mutations.

Original languageEnglish
Pages (from-to)13-18
Number of pages6
JournalDevelopment
Volume134
Issue number1
DOIs
Publication statusPublished - Jan 2007

Keywords

  • Dlx3
  • Ectodermal dysplasias
  • Mouse development
  • p63
  • Transcription

ASJC Scopus subject areas

  • Cell Biology
  • Anatomy

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    Radoja, N., Guerrini, L., Iacono, N. L., Merlo, G. R., Costanzo, A., Weinberg, W. C., La Mantia, G., Calabrò, V., & Morasso, M. I. (2007). Homeobox gene Dlx3 is regulated by p63 during ectoderm development: Relevance in the pathogenesis of ectodermal dysplasias. Development, 134(1), 13-18. https://doi.org/10.1242/dev.02703