LUBAC prevents lethal dermatitis by inhibiting cell death induced by TNF, TRAIL and CD95L

Nat Commun. 2018 Sep 25;9(1):3910. doi: 10.1038/s41467-018-06155-8.

Abstract

The linear ubiquitin chain assembly complex (LUBAC), composed of HOIP, HOIL-1 and SHARPIN, is required for optimal TNF-mediated gene activation and to prevent cell death induced by TNF. Here, we demonstrate that keratinocyte-specific deletion of HOIP or HOIL-1 (E-KO) results in severe dermatitis causing postnatal lethality. We provide genetic and pharmacological evidence that the postnatal lethal dermatitis in HoipE-KO and Hoil-1E-KO mice is caused by TNFR1-induced, caspase-8-mediated apoptosis that occurs independently of the kinase activity of RIPK1. In the absence of TNFR1, however, dermatitis develops in adulthood, triggered by RIPK1-kinase-activity-dependent apoptosis and necroptosis. Strikingly, TRAIL or CD95L can redundantly induce this disease-causing cell death, as combined loss of their respective receptors is required to prevent TNFR1-independent dermatitis. These findings may have implications for the treatment of patients with mutations that perturb linear ubiquitination and potentially also for patients with inflammation-associated disorders that are refractory to inhibition of TNF alone.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Animals, Newborn
  • Carrier Proteins / genetics
  • Carrier Proteins / metabolism*
  • Cell Death / drug effects
  • Cell Death / genetics
  • Cells, Cultured
  • Dermatitis / genetics
  • Dermatitis / metabolism*
  • Fas Ligand Protein / pharmacology*
  • Intracellular Signaling Peptides and Proteins
  • Keratinocytes / cytology
  • Keratinocytes / drug effects
  • Keratinocytes / metabolism
  • Mice, Inbred C57BL
  • Mice, Knockout
  • Mice, Transgenic
  • Skin / drug effects
  • Skin / metabolism
  • Skin / pathology
  • TNF-Related Apoptosis-Inducing Ligand / pharmacology*
  • Tumor Necrosis Factor-alpha / pharmacology*
  • Ubiquitin-Protein Ligases / genetics
  • Ubiquitin-Protein Ligases / metabolism*

Substances

  • Carrier Proteins
  • Fas Ligand Protein
  • Intracellular Signaling Peptides and Proteins
  • Sipl1 protein, mouse
  • TNF-Related Apoptosis-Inducing Ligand
  • Tumor Necrosis Factor-alpha
  • Rbck1 protein, mouse
  • Rnf31 protein, mouse
  • Ubiquitin-Protein Ligases