Impaired neutral sphingomyelinase activation and cutaneous barrier repair in FAN-deficient mice

EMBO J. 1999 May 4;18(9):2472-9. doi: 10.1093/emboj/18.9.2472.

Abstract

The WD-40 repeat protein FAN binds to a distinct domain of the p55 receptor for tumor necrosis factor (TNF) and signals the activation of neutral sphingomyelinase (N-SMase). To analyze the physiological role of FAN in vivo, we generated FAN-deficient mice by targeted gene disruption. Mice lacking a functional FAN protein do not show any overt phenotypic abnormalities; in particular, the architecture and cellular composition of lymphoid organs appeared to be unaltered. An essential role of FAN in the TNF-induced activation of N-SMase was demonstrated using thymocytes from FAN knockout mice. Activation of extracellular signal-regulated kinases in response to TNF treatment, however, was not impaired by the absence of the FAN protein. FAN-deficient mice show delayed kinetics of recovery after cutaneous barrier disruption suggesting a physiological role of FAN in epidermal barrier repair. Although FAN exhibits striking structural homologies with the CHS/Beige proteins, FAN-deficient mice did not reproduce the phenotype of beige mice.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Cytotoxicity, Immunologic
  • Enzyme Activation / drug effects
  • Epidermis / injuries
  • Epidermis / physiology*
  • Gene Targeting
  • Homeostasis*
  • Intracellular Signaling Peptides and Proteins
  • Killer Cells, Natural
  • Mice
  • Mice, Mutant Strains
  • Permeability
  • Proteins / genetics*
  • Sequence Homology, Amino Acid
  • Signal Transduction
  • Sphingomyelin Phosphodiesterase / metabolism*
  • Thymus Gland / cytology
  • Thymus Gland / immunology
  • Tumor Necrosis Factor-alpha / pharmacology
  • Vesicular Transport Proteins
  • Wound Healing

Substances

  • Intracellular Signaling Peptides and Proteins
  • Lyst protein, mouse
  • Nsmaf protein, mouse
  • Proteins
  • Tumor Necrosis Factor-alpha
  • Vesicular Transport Proteins
  • Sphingomyelin Phosphodiesterase