Ectodysplasin signaling in development

Cytokine Growth Factor Rev. 2003 Jun-Aug;14(3-4):211-24. doi: 10.1016/s1359-6101(03)00020-0.

Abstract

Ectodysplasin (Eda), a signaling molecule belonging to the tumor necrosis factor family, is required for normal development of several ectodermally derived organs in humans and mice. Two closely related isoforms of ectodysplasin, Eda-A1 and Eda-A2, have been described which bind to and activate two different receptors, Edar and X-linked Eda-A2 receptor (Xedar), respectively. Mutations in Eda, Edar or other molecules of this signaling pathway cause ectodermal dysplasias characterized by defective development of teeth, hairs, and several exocrine glands such as sweat glands presumably due to impaired NF-kappaB response. Studies with mice either lacking the functional proteins of Edar pathway or overexpressing the ligand or receptor suggest that Eda-A1-Edar signaling has multiple roles in ectodermal organ development regulating their initiation, morphogenesis, and differentiation.

Publication types

  • Review

MeSH terms

  • Animals
  • Ectodysplasins
  • Edar Receptor
  • Embryonic and Fetal Development / genetics
  • Embryonic and Fetal Development / physiology
  • Gene Expression Regulation, Developmental
  • Humans
  • Membrane Proteins / genetics
  • Membrane Proteins / physiology*
  • Mice
  • Models, Biological
  • Mutation
  • Protein Isoforms / genetics
  • Protein Isoforms / physiology
  • Receptors, Ectodysplasin
  • Receptors, Tumor Necrosis Factor
  • 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
  • Protein Isoforms
  • Receptors, Ectodysplasin
  • Receptors, Tumor Necrosis Factor
  • Xedar Receptor

Associated data

  • OMIM/305100