title: Repertoire of mouse ectodysplasin-A (EDA-A) isoforms.
abstract: Mutations in ectodysplasin-A (EDA) cause loss of hair, sweat glands, and teeth in man and mouse. Isoform EDA-A1 protein shows partial rescue of the affected Tabby mouse phenotypes, suggesting that other isoforms may be required for full function. We describe genomic structure for five EDA isoforms, EDA-A1', A5, A5', A6, and A6', in addition to the previously known EDA-A1, A2, A3, and A4. The novel isoforms together account for approximately 12% of total EDA transcripts. The most different, EDA-A6 and A6', which lack the critical domain for interaction with NF-kappaB-activating receptors, were nevertheless confirmed to be present in mouse and human skin tissue. Other isoforms, EDA-A5 and A5', for example, activated NF-kappaB through receptors EDAR and XEDAR. These properties make new isoforms candidates for modulators of EDA function.
authors.affiliation: Laboratory of Genetics, NIH/National Institute on Aging, Baltimore, MD 21224, USA.
authors.forename: Tsuyoshi
authors.initials: T
authors.lastname: Hashimoto
authors.forename: Chang-Yi
authors.initials: CY
authors.lastname: Cui
authors.forename: David
authors.initials: D
authors.lastname: Schlessinger
mesh_terms: D000818:Animals; D002478:Cells, Cultured; D053331:Ectodysplasins; D053339:Edar Receptor; D006801:Humans; D015603:Keratinocytes / Q000166:cytology / Q000378:metabolism*; D008565:Membrane Proteins / Q000235:genetics / Q000378:metabolism*; D051379:Mice; D016328:NF-kappa B / Q000378:metabolism; D009928:Organ Specificity / Q000502:physiology; D020033:Protein Isoforms / Q000235:genetics / Q000378:metabolism; D017434:Protein Structure, Tertiary / Q000235:genetics; D053338:Receptors, Ectodysplasin; D018124:Receptors, Tumor Necrosis Factor / Q000235:genetics / Q000378:metabolism; D015398:Signal Transduction / Q000502:physiology*; D012867:Skin / Q000166:cytology / Q000378:metabolism; D048069:Tumor Necrosis Factors / Q000235:genetics / Q000378:metabolism*; D053340:Xedar Receptor
chemical_list: C506018:EDA protein, human; C506011:EDA2R protein, human; C506008:EDAR protein, human; D053331:Ectodysplasins; C506019:Eda protein, mouse; C506015:Eda2r Protein, mouse; D053339:Edar Receptor; C506009:Edar protein, mouse; D008565:Membrane Proteins; D016328:NF-kappa B; D020033:Protein Isoforms; D053338:Receptors, Ectodysplasin; D018124:Receptors, Tumor Necrosis Factor; D048069:Tumor Necrosis Factors; D053340:Xedar Receptor