Embryonic AP1 Transcription Factor Deficiency Causes a Collodion Baby-Like Phenotype

J Invest Dermatol. 2017 Sep;137(9):1868-1877. doi: 10.1016/j.jid.2017.04.032. Epub 2017 May 16.


AP1 transcription factors are important controllers of gene expression in the epidermis, and altered AP1 factor function can perturb keratinocyte proliferation and differentiation. However, our understanding of how AP1 signaling changes may underlie or exacerbate skin disease is limited. We have shown that inhibiting AP1 factor function in suprabasal adult epidermis leads to reduced filaggrin levels and to a phenotype that resembles the genetic disorder ichthyosis vulgaris. We now show that inhibiting AP1 factor function during development in embryonic epidermis produces marked phenotypic changes including reduced filaggrin mRNA and protein levels, compromised barrier function, marked ultrastructural change, and enhanced dehydration susceptibility that resembles the phenotype observed in the flaky tail mouse, a model for ichthyosis vulgaris. In addition, the AP1 factor-deficient newborn mice display a collodion membrane phenotype that is not observed in flaky tail mice or in newborn individuals with ichthyosis vulgaris but is present in other forms of ichthyosis. This mixed phenotype suggests the need for a better understanding of the possible role of filaggrin loss and AP1 transcription factor deficiency in ichthyoses and collodion membrane formation.

MeSH terms

  • Animals
  • Animals, Newborn
  • Biopsy, Needle
  • Cell Differentiation / genetics*
  • Cells, Cultured
  • Disease Models, Animal
  • Filaggrin Proteins
  • Humans
  • Ichthyosiform Erythroderma, Congenital / genetics*
  • Ichthyosiform Erythroderma, Congenital / metabolism
  • Immunohistochemistry
  • Intermediate Filament Proteins / genetics*
  • Keratinocytes / metabolism
  • Mice
  • Mice, Transgenic
  • Phenotype
  • Random Allocation
  • Sensitivity and Specificity
  • Signal Transduction
  • Transcription Factor AP-1 / genetics*
  • Transcription Factor AP-1 / metabolism


  • FLG protein, human
  • Filaggrin Proteins
  • Intermediate Filament Proteins
  • Transcription Factor AP-1