Yan,M.H., Wang,L.C., Hymowitz,S.G., Schilbach,S., Lee,J., Goddard,A., de Vos,A.M., Gao,W.Q., and, Dixit,V.M.
Two-amino acid molecular switch in an epithelial morphogen that regulates binding to two distinct receptors.
Science 290(5491):523-527 (2000).
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. [References: 20].
Last edited 10.12.2004 by P.N.