Myodegeneration in EDA-A2 transgenic mice is prevented by XEDAR deficiency

Mol Cell Biol. 2004 Feb;24(4):1608-13. doi: 10.1128/MCB.24.4.1608-1613.2004.

Abstract

EDA-A1 and EDA-A2 are members of the tumor necrosis factor family of ligands. The products of alternative splicing of the ectodysplasin (EDA) gene, EDA-A1 and EDA-A2 differ by an insertion of two amino acids and bind to distinct receptors. The longer isoform, EDA-A1, binds to EDAR and plays an important role in sweat gland, hair, and tooth development; mutations in EDA, EDAR, or the downstream adaptor EDARADD cause hypohidrotic ectodermal dysplasia. EDA-A2 engages the receptor XEDAR, but its role in the whole organism is less clear. We have generated XEDAR-deficient mice by gene targeting and transgenic mice expressing secreted forms of EDA-A1 or EDA-A2 downstream of the skeletal muscle-specific myosin light-chain 2 or skin-specific keratin 5 promoter. Mice lacking XEDAR were indistinguishable from their wild-type littermates, but EDA-A2 transgenic mice exhibited multifocal myodegeneration. This phenotype was not observed in the absence of XEDAR. Skeletal muscle in EDA-A1 transgenic mice was unaffected, but their sebaceous glands were hypertrophied and hyperplastic, consistent with a role for EDA-A1 in the development of these structures. These data indicate that XEDAR-transduced signals are dispensable for development of ectoderm-derived organs but might play a role in skeletal muscle homeostasis.

MeSH terms

  • Animals
  • Cells, Cultured
  • Ectodysplasins
  • Edar Receptor
  • Humans
  • Membrane Proteins / deficiency*
  • Membrane Proteins / genetics
  • Membrane Proteins / metabolism*
  • Mice
  • Mice, Transgenic
  • Muscle, Skeletal / metabolism*
  • Muscle, Skeletal / pathology*
  • Mutagenesis, Site-Directed
  • NF-kappa B / metabolism
  • RNA, Messenger / genetics
  • RNA, Messenger / metabolism
  • Receptors, Cell Surface / deficiency*
  • Receptors, Cell Surface / genetics
  • Receptors, Cell Surface / metabolism
  • Receptors, Ectodysplasin
  • Receptors, Tumor Necrosis Factor
  • Sebaceous Glands / metabolism
  • Sebaceous Glands / pathology
  • Signal Transduction
  • Xedar Receptor

Substances

  • EDA protein, human
  • EDA2R protein, human
  • EDAR protein, human
  • Ectodysplasins
  • Eda protein, mouse
  • Eda2r Protein, mouse
  • Edar Receptor
  • Edar protein, mouse
  • Membrane Proteins
  • NF-kappa B
  • RNA, Messenger
  • Receptors, Cell Surface
  • Receptors, Ectodysplasin
  • Receptors, Tumor Necrosis Factor
  • Xedar Receptor