EDA
MIM.300451 Xq12-q12.1
Ectodysplasin (Eda) is a signaling molecule belonging to the tumor necrosis factor family (TNF family). EDA1 plays a critical role in tooth, hair, and sweat gland morphogenesis.
It 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.
Pathology
germline mutations of EDA in X-linked hypohidrotic ectodermal dysplasia (MIM.305100).
See also
Pathology of the TNF family (TNFSFs)
Reviews
Cui CY, Schlessinger D. EDA signaling and skin appendage development. Cell Cycle. 2006 Nov 1;5(21):2477-83. PMID: #17102627#
Botchkarev VA, Fessing MY. Edar signaling in the control of hair follicle development. J Investig Dermatol Symp Proc. 2005 Dec;10(3):247-51. PMID: #16382675#
Courtney JM, Blackburn J, Sharpe PT. The Ectodysplasin and NFkappaB signalling pathways in odontogenesis. Arch Oral Biol. 2005 Feb;50(2):159-63. PMID: #15721144#
Mikkola ML, Thesleff I. Ectodysplasin signaling in development. Cytokine Growth Factor Rev. 2003 Jun-Aug;14(3-4):211-24. PMID: #12787560#
Wisniewski SA, Kobielak A, Trzeciak WH, Kobielak K. Recent advances in understanding of the molecular basis of anhidrotic ectodermal dysplasia: discovery of a ligand, ectodysplasin A and its two receptors. J Appl Genet. 2002;43(1):97-107. PMID: #12084975#