Two-amino acid molecular switch in an epithelial morphogen that regulates binding to two distinct receptors - PubMed (original) (raw)
Two-amino acid molecular switch in an epithelial morphogen that regulates binding to two distinct receptors
M Yan et al. Science. 2000.
Abstract
Ectodysplasin, a member of the tumor necrosis factor family, is encoded by the anhidrotic ectodermal dysplasia (EDA) gene. Mutations in EDA give rise to a clinical syndrome characterized by loss of hair, sweat glands, and teeth. EDA-A1 and EDA-A2 are two isoforms of ectodysplasin that differ only by an insertion of two amino acids. This insertion functions to determine receptor binding specificity, such that EDA-A1 binds only the receptor EDAR, whereas EDA-A2 binds only the related, but distinct, X-linked ectodysplasin-A2 receptor (XEDAR). In situ binding and organ culture studies indicate that EDA-A1 and EDA-A2 are differentially expressed and play a role in epidermal morphogenesis.
Similar articles
- Role of TRAF3 and -6 in the activation of the NF-kappa B and JNK pathways by X-linked ectodermal dysplasia receptor.
Sinha SK, Zachariah S, Quiñones HI, Shindo M, Chaudhary PM. Sinha SK, et al. J Biol Chem. 2002 Nov 22;277(47):44953-61. doi: 10.1074/jbc.M207923200. Epub 2002 Sep 20. J Biol Chem. 2002. PMID: 12270937 - Myodegeneration in EDA-A2 transgenic mice is prevented by XEDAR deficiency.
Newton K, French DM, Yan M, Frantz GD, Dixit VM. Newton K, et al. Mol Cell Biol. 2004 Feb;24(4):1608-13. doi: 10.1128/MCB.24.4.1608-1613.2004. Mol Cell Biol. 2004. PMID: 14749376 Free PMC article. - Mutations leading to X-linked hypohidrotic ectodermal dysplasia affect three major functional domains in the tumor necrosis factor family member ectodysplasin-A.
Schneider P, Street SL, Gaide O, Hertig S, Tardivel A, Tschopp J, Runkel L, Alevizopoulos K, Ferguson BM, Zonana J. Schneider P, et al. J Biol Chem. 2001 Jun 1;276(22):18819-27. doi: 10.1074/jbc.M101280200. Epub 2001 Mar 14. J Biol Chem. 2001. PMID: 11279189 - Ectodysplasin signaling in development.
Mikkola ML, Thesleff I. Mikkola ML, et al. Cytokine Growth Factor Rev. 2003 Jun-Aug;14(3-4):211-24. doi: 10.1016/s1359-6101(03)00020-0. Cytokine Growth Factor Rev. 2003. PMID: 12787560 Review. - Ectodysplasin A (EDA) - EDA receptor signalling and its pharmacological modulation.
Kowalczyk-Quintas C, Schneider P. Kowalczyk-Quintas C, et al. Cytokine Growth Factor Rev. 2014 Apr;25(2):195-203. doi: 10.1016/j.cytogfr.2014.01.004. Epub 2014 Jan 23. Cytokine Growth Factor Rev. 2014. PMID: 24508088 Review.
Cited by
- EDA Variants Are Responsible for Approximately 90% of Deciduous Tooth Agenesis.
Su L, Lin B, Yu M, Liu Y, Sun S, Feng H, Liu H, Han D. Su L, et al. Int J Mol Sci. 2024 Sep 27;25(19):10451. doi: 10.3390/ijms251910451. Int J Mol Sci. 2024. PMID: 39408781 Free PMC article. - Protein isoform-centric therapeutics: expanding targets and increasing specificity.
Kjer-Hansen P, Phan TG, Weatheritt RJ. Kjer-Hansen P, et al. Nat Rev Drug Discov. 2024 Oct;23(10):759-779. doi: 10.1038/s41573-024-01025-z. Epub 2024 Sep 4. Nat Rev Drug Discov. 2024. PMID: 39232238 Review. - EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia.
Rietmann SJ, Cochet-Faivre N, Dropsy H, Jagannathan V, Chevallier L, Leeb T. Rietmann SJ, et al. Genes (Basel). 2024 Jun 28;15(7):854. doi: 10.3390/genes15070854. Genes (Basel). 2024. PMID: 39062633 Free PMC article. - Compound heterozygous WNT10A missense variations exacerbated the tooth agenesis caused by hypohidrotic ectodermal dysplasia.
Liu Y, Sun J, Zhang C, Wu Y, Ma S, Li X, Wu X, Gao Q. Liu Y, et al. BMC Oral Health. 2024 Jan 27;24(1):136. doi: 10.1186/s12903-024-03888-5. BMC Oral Health. 2024. PMID: 38280992 Free PMC article. - A Missense Mutation in the Collagen Triple Helix of EDA Is Associated with X-Linked Recessive Hypohidrotic Ectodermal Dysplasia in Fleckvieh Cattle.
Reinartz S, Weiß C, Heppelmann M, Hewicker-Trautwein M, Hellige M, Willen L, Feige K, Schneider P, Distl O. Reinartz S, et al. Genes (Basel). 2023 Dec 20;15(1):8. doi: 10.3390/genes15010008. Genes (Basel). 2023. PMID: 38275590 Free PMC article.
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Other Literature Sources
Molecular Biology Databases