Skin lesion development in a mouse model of incontinentia pigmenti is triggered by NEMO deficiency in epidermal keratinocytes and requires TNF signaling. - Archive ouverte HAL
Journal Articles Human Molecular Genetics Year : 2006

Skin lesion development in a mouse model of incontinentia pigmenti is triggered by NEMO deficiency in epidermal keratinocytes and requires TNF signaling.

Arianna Nenci
  • Function : Author
Marion Huth
  • Function : Author
Alfred Funteh
  • Function : Author
Marc Schmidt-Supprian
  • Function : Author
Wilhelm Bloch
  • Function : Author
Klaus Rajewsky
  • Function : Author
Thomas Krieg
Ingo Haase
  • Function : Author
Manolis Pasparakis
  • Function : Author

Abstract

NF-kappaB essential modulator (NEMO), the regulatory subunit of the IkappaB kinase, is essential for NF-kappaB activation. Mutations disrupting the X-linked NEMO gene cause incontinentia pigmenti (IP), a human genetic disease characterized by male embryonic lethality and by a complex pathology affecting primarily the skin in heterozygous females. The cellular and molecular mechanisms leading to skin lesion pathogenesis in IP patients remain elusive. Here we used epidermis-specific deletion of NEMO in mice to investigate the mechanisms causing the skin pathology in IP. NEMO deletion completely inhibited NF-kappaB activation and sensitized keratinocytes to tumor necrosis factor (TNF)-induced death but did not affect epidermal development. Keratinocyte-restricted NEMO deletion, either constitutive or induced in adult skin, caused inflammatory skin lesions, identifying the NEMO-deficient keratinocyte as the initiating cell type that triggers the skin pathology in IP. Furthermore, genetic ablation of tumor necrosis factor receptor 1 (TNFRI) rescued the skin phenotype demonstrating that TNF signaling is essential for skin lesion pathogenesis in IP. These results identify the NEMO-deficient keratinocyte as a potent initiator of skin inflammation and provide novel insights into the mechanism leading to the pathogenesis of IP.

Dates and versions

hal-00188082 , version 1 (15-11-2007)

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Arianna Nenci, Marion Huth, Alfred Funteh, Marc Schmidt-Supprian, Wilhelm Bloch, et al.. Skin lesion development in a mouse model of incontinentia pigmenti is triggered by NEMO deficiency in epidermal keratinocytes and requires TNF signaling.. Human Molecular Genetics, 2006, 15 (4), pp.531-42. ⟨10.1093/hmg/ddi470⟩. ⟨hal-00188082⟩
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