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Gene Review

EDA  -  ectodysplasin A

Homo sapiens

Synonyms: ECTD1, ED1, ED1-A1, ED1-A2, EDA protein, ...
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Disease relevance of EDA


Psychiatry related information on EDA


High impact information on EDA


Chemical compound and disease context of EDA

  • Eight patients (77 joints) with polyarthritis were treated systemically with 570 MBq (15.4 mCi) of rhenium 186 ((186)Re) hydroxyethylidenediphosphonate (HEDP) [13].
  • Rhenium-186 (tin) hydroxyethylidene diphosphonate (HEDP) is a new radiopharmaceutical that simultaneously localizes in multiple skeletal metastases in patients with advanced cancer [14].
  • The aim of this study was to determine the maximum tolerated dose of rhenium-188 hydroxyethylidene diphosphonate (HEDP) in prostate cancer patients with osseous metastases who are suffering from bone pain [15].
  • The activities of CDP reductase and thymidine kinase were reduced in patients with the hyperimmunoglobulin E syndrome, congenital cytomegalovirus infection, anhidrotic ectodermal dysplasia with hyperimmunoglobulin A, Bloom's syndrome, immunodeficiency with hyperimmunoglobulinemia, and Down's syndrome [16].
  • A phase IV, open-label, multicenter survey of 983 obstetrician-gynecologists was conducted to evaluate the incidence of intermenstrual bleeding in 6,382 women receiving a low-dose monophasic oral contraceptive, ethynodiol diacetate, 1 mg, with ethinyl estradiol, 35 micrograms (EDA 1 mg with EE 35 micrograms) over a six-month period [17].

Biological context of EDA

  • These analyses suggest that cleavage at the furin site(s) in the stalk region is required for the EDA-mediated cell-to-cell signaling that regulates the morphogenesis of ectodermal appendages [18].
  • Some EDA patients have missense mutations affecting this recognition sequence, suggesting that cleavage has biological significance in vivo [19].
  • In contrast to the diversity of genes underlying ectodermal dysplasia disease phenotypes in humans, none of these EDA pathway components map to chromosomes previously shown to modify armor plates in natural populations, though EDAR showed a small but significant effect on plate number [20].
  • The purified EDA immunoadhesins were endowed with ligand-binding activity as they could bind EDAR or XEDAR on the surface of 293T cells that had been transiently transfected with the corresponding plasmids [1].
  • Recent findings have elucidated the cause of the autosomal forms of EDA, both dominant and recessive, and indicated an important role of a signal transduction pathway involving a protein product of the NEMO gene and the transcription factor NFkappaB in the differentiation of skin appendages [21].

Anatomical context of EDA


Associations of EDA with chemical compounds

  • Here we show that the 50-kDa EDA parent molecule is cleaved at -Arg156Asn-Lys-Arg(159 downward arrow)- to release the soluble C-terminal fragment containing the TNF core domain [18].
  • Importantly, the key residue cysteine 417 at the zinc finger domain of IKKgamma has been found to be mutated to arginine (IKKgammaC417R) in a human genetic disorder called the anhydrotic ectodermal dysplasia with immunodeficiency [25].
  • A point mutation in NEMO associated with anhidrotic ectodermal dysplasia with immunodeficiency pathology results in destabilization of the oligomer and reduces lipopolysaccharide- and tumor necrosis factor-mediated NF-kappaB activation [26].
  • The concentration of the proscillaridin A immunoreactivity ED1 in normotensive subjects had a geometric mean of 0.1 nmol/L, with a dispersion factor of 8.77 [27].
  • The EDA exon of the fibronectin gene is a typical example of an exon bearing a purine-rich exon splicing enhancer (ESE) element recognised by members of the SR phosphoprotein family [28].

Physical interactions of EDA

  • Finally, ectodysplasin A can physically interact with the extracellular domain of EDAR and thus represents its biological ligand [29].
  • The purified EDA protein was shown to bind to TLR4-expressing HEK293 cells and to activate the TLR4 signaling pathway [30].

Regulatory relationships of EDA

  • In addition, indirect stabilization of endogenous beta-catenin stimulated EDA transcription 4- to 13-fold [31].

Other interactions of EDA


Analytical, diagnostic and therapeutic context of EDA


  1. High level production and one-step purification of biologically active ectodysplasin A1 and A2 immunoadhesins using the baculovirus/insect cell expression system. Chang, B., Chaudhary, P.M. Protein Expr. Purif. (2004) [Pubmed]
  2. Permanent correction of an inherited ectodermal dysplasia with recombinant EDA. Gaide, O., Schneider, P. Nat. Med. (2003) [Pubmed]
  3. NEMO is a sensor of Lys 63-linked polyubiquitination and functions in NF-kappaB activation. Wu, C.J., Conze, D.B., Li, T., Srinivasula, S.M., Ashwell, J.D. Nat. Cell Biol. (2006) [Pubmed]
  4. Partial deletion of the bovine ED1 gene causes anhidrotic ectodermal dysplasia in cattle. Drögemüller, C., Distl, O., Leeb, T. Genome Res. (2001) [Pubmed]
  5. Ectodysplasin has a dual role in ectodermal organogenesis: inhibition of Bmp activity and induction of Shh expression. Pummila, M., Fliniaux, I., Jaatinen, R., James, M.J., Laurikkala, J., Schneider, P., Thesleff, I., Mikkola, M.L. Development (2007) [Pubmed]
  6. Mental retardation, distinct craniofacial dysmorphism, and central nervous system malformation: confirmation of a syndrome. Devriendt, K., D'Espallier, L., Fryns, J.P. J. Med. Genet. (1996) [Pubmed]
  7. Hemispheric modulatory influences on skin resistance response latency: unilateral stimulation, bilateral recording. Esen, F., Esen, H. Int. J. Neurosci. (2002) [Pubmed]
  8. Adaptive behavior of school-age children with hypohidrotic ectodermal dysplasia. Tanner, B.A. Birth Defects Orig. Artic. Ser. (1988) [Pubmed]
  9. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. Döffinger, R., Smahi, A., Bessia, C., Geissmann, F., Feinberg, J., Durandy, A., Bodemer, C., Kenwrick, S., Dupuis-Girod, S., Blanche, S., Wood, P., Rabia, S.H., Headon, D.J., Overbeek, P.A., Le Deist, F., Holland, S.M., Belani, K., Kumararatne, D.S., Fischer, A., Shapiro, R., Conley, M.E., Reimund, E., Kalhoff, H., Abinun, M., Munnich, A., Israël, A., Courtois, G., Casanova, J.L. Nat. Genet. (2001) [Pubmed]
  10. Mutations in GJB6 cause hidrotic ectodermal dysplasia. Lamartine, J., Munhoz Essenfelder, G., Kibar, Z., Lanneluc, I., Callouet, E., Laoudj, D., Lemaître, G., Hand, C., Hayflick, S.J., Zonana, J., Antonarakis, S., Radhakrishna, U., Kelsell, D.P., Christianson, A.L., Pitaval, A., Der Kaloustian, V., Fraser, C., Blanchet-Bardon, C., Rouleau, G.A., Waksman, G. Nat. Genet. (2000) [Pubmed]
  11. Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia. Suzuki, K., Hu, D., Bustos, T., Zlotogora, J., Richieri-Costa, A., Helms, J.A., Spritz, R.A. Nat. Genet. (2000) [Pubmed]
  12. Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia. Monreal, A.W., Ferguson, B.M., Headon, D.J., Street, S.L., Overbeek, P.A., Zonana, J. Nat. Genet. (1999) [Pubmed]
  13. Painful multifocal arthritis: therapy with rhenium 186 hydroxyethylidenediphosphonate ((186)Re HEDP) after failed treatment with medication--initial results of a prospective study. Palmedo, H., Rockstroh, J.K., Bangard, M., Schliefer, K., Risse, J., Menzel, C., Biersack, H.J. Radiology. (2001) [Pubmed]
  14. Rhenium-186(Sn)HEDP for treatment of painful osseous metastases: results of a double-blind crossover comparison with placebo. Maxon, H.R., Schroder, L.E., Hertzberg, V.S., Thomas, S.R., Englaro, E.E., Samaratunga, R., Smith, H., Moulton, J.S., Williams, C.C., Ehrhardt, G.J. J. Nucl. Med. (1991) [Pubmed]
  15. Dose escalation study with rhenium-188 hydroxyethylidene diphosphonate in prostate cancer patients with osseous metastases. Palmedo, H., Guhlke, S., Bender, H., Sartor, J., Schoeneich, G., Risse, J., Grünwald, F., Knapp, F.F., Biersack, H.J. European journal of nuclear medicine. (2000) [Pubmed]
  16. Cytidine 5'-diphosphate reductase and thymidine kinase activities in phytohemagglutinin-stimulated lymphocytes of normal subjects of various ages and patients with immunodeficiency. Takeda, E., Kuroda, Y., Watanabe, T., Ito, M., Naito, E., Sekiguchi, T., Ichioka, T., Hosoda, T., Miyao, M. Pediatr. Res. (1984) [Pubmed]
  17. Incidence of breakthrough bleeding during oral contraceptive therapy. Hill, G.A., Wheeler, J.M. The Journal of reproductive medicine. (1991) [Pubmed]
  18. Mutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasia. Chen, Y., Molloy, S.S., Thomas, L., Gambee, J., Bächinger, H.P., Ferguson, B., Zonana, J., Thomas, G., Morris, N.P. Proc. Natl. Acad. Sci. U.S.A. (2001) [Pubmed]
  19. Ectodysplasin is released by proteolytic shedding and binds to the EDAR protein. Elomaa, O., Pulkkinen, K., Hannelius, U., Mikkola, M., Saarialho-Kere, U., Kere, J. Hum. Mol. Genet. (2001) [Pubmed]
  20. Constraints on utilization of the EDA-signaling pathway in threespine stickleback evolution. Knecht, A.K., Hosemann, K.E., Kingsley, D.M. Evol. Dev. (2007) [Pubmed]
  21. Recent advances in understanding of the molecular basis of anhidrotic ectodermal dysplasia: discovery of a ligand, ectodysplasin A and its two receptors. Wiśniewski, S.A., Kobielak, A., Trzeciak, W.H., Kobielak, K. J. Appl. Genet. (2002) [Pubmed]
  22. Two-amino acid molecular switch in an epithelial morphogen that regulates binding to two distinct receptors. Yan, M., Wang, L.C., Hymowitz, S.G., Schilbach, S., Lee, J., Goddard, A., de Vos, A.M., Gao, W.Q., Dixit, V.M. Science (2000) [Pubmed]
  23. High-resolution mapping of the X-linked hypohidrotic ectodermal dysplasia (EDA) locus. Zonana, J., Jones, M., Browne, D., Litt, M., Kramer, P., Becker, H.W., Brockdorff, N., Rastan, S., Davies, K.P., Clarke, A. Am. J. Hum. Genet. (1992) [Pubmed]
  24. The gene defective in anhidrotic ectodermal dysplasia is expressed in the developing epithelium, neuroectoderm, thymus, and bone. Montonen, O., Ezer, S., Saarialho-Kere, U.K., Herva, R., Karjalainen-Lindsberg, M.L., Kaitila, I., Schlessinger, D., Srivastava, A.K., Thesleff, I., Kere, J. J. Histochem. Cytochem. (1998) [Pubmed]
  25. The zinc finger mutation C417R of I-kappa B kinase gamma impairs lipopolysaccharide- and TNF-mediated NF-kappa B activation through inhibiting phosphorylation of the I-kappa B kinase beta activation loop. Yang, F., Yamashita, J., Tang, E., Wang, H.L., Guan, K., Wang, C.Y. J. Immunol. (2004) [Pubmed]
  26. A point mutation in NEMO associated with anhidrotic ectodermal dysplasia with immunodeficiency pathology results in destabilization of the oligomer and reduces lipopolysaccharide- and tumor necrosis factor-mediated NF-kappaB activation. Vinolo, E., Sebban, H., Chaffotte, A., Israël, A., Courtois, G., Véron, M., Agou, F. J. Biol. Chem. (2006) [Pubmed]
  27. Pulse pressure correlates in humans with a proscillaridin A immunoreactive compound. Sich, B., Kirch, U., Tepel, M., Zidek, W., Schoner, W. Hypertension (1996) [Pubmed]
  28. Regulation of the fibronectin EDA exon alternative splicing. Cooperative role of the exonic enhancer element and the 5' splicing site. Muro, A.F., Iaconcig, A., Baralle, F.E. FEBS Lett. (1998) [Pubmed]
  29. The ectodermal dysplasia receptor activates the nuclear factor-kappaB, JNK, and cell death pathways and binds to ectodysplasin A. Kumar, A., Eby, M.T., Sinha, S., Jasmin, A., Chaudhary, P.M. J. Biol. Chem. (2001) [Pubmed]
  30. The Extra Domain A from Fibronectin Targets Antigens to TLR4-Expressing Cells and Induces Cytotoxic T Cell Responses In Vivo. Lasarte, J.J., Casares, N., Gorraiz, M., Herv??s-Stubbs, S., Arribillaga, L., Mansilla, C., Durantez, M., Llopiz, D., Sarobe, P., Borr??s-Cuesta, F., Prieto, J., Leclerc, C. J. Immunol. (2007) [Pubmed]
  31. The EDA gene is a target of, but does not regulate Wnt signaling. Durmowicz, M.C., Cui, C.Y., Schlessinger, D. Gene (2002) [Pubmed]
  32. TAB2, TRAF6 and TAK1 are involved in NF-kappaB activation induced by the TNF-receptor, Edar and its adaptator Edaradd. Morlon, A., Munnich, A., Smahi, A. Hum. Mol. Genet. (2005) [Pubmed]
  33. Sequence polymorphisms of the EDA and the DL genes in the patients with an X-linked and an autosomal forms of anhidrotic ectodermal dysplasia. Kobielak, A., Kobielak, K., Wiśniewski, S.A., Midro, A.T., Trzeciak, W.H. Folia Histochem. Cytobiol. (2001) [Pubmed]
  34. A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency. Courtois, G., Smahi, A., Reichenbach, J., Döffinger, R., Cancrini, C., Bonnet, M., Puel, A., Chable-Bessia, C., Yamaoka, S., Feinberg, J., Dupuis-Girod, S., Bodemer, C., Livadiotti, S., Novelli, F., Rossi, P., Fischer, A., Israël, A., Munnich, A., Le Deist, F., Casanova, J.L. J. Clin. Invest. (2003) [Pubmed]
  35. Novel mutations in the EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasia. Naeem, M., Muhammad, D., Ahmad, W. Br. J. Dermatol. (2005) [Pubmed]
  36. X-linked hypohidrotic ectodermal dysplasia: localization within the region Xq11-21.1 by linkage analysis and implications for carrier detection and prenatal diagnosis. Zonana, J., Clarke, A., Sarfarazi, M., Thomas, N.S., Roberts, K., Marymee, K., Harper, P.S. Am. J. Hum. Genet. (1988) [Pubmed]
  37. Chronic rejection in experimental cardiac transplantation: studies in the Lewis-F344 model. Adams, D.H., Russell, M.E., Hancock, W.W., Sayegh, M.H., Wyner, L.R., Karnovsky, M.J. Immunol. Rev. (1993) [Pubmed]
  38. Prenatal diagnosis of X-linked hypohidrotic ectodermal dysplasia by linkage analysis. Zonana, J., Schinzel, A., Upadhyaya, M., Thomas, N.S., Anton-Lamprecht, I., Harper, P.S. Am. J. Med. Genet. (1990) [Pubmed]
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