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Science. 2000 Oct 20;290(5491):523-7.

Two-amino acid molecular switch in an epithelial morphogen that regulates binding to two distinct receptors.

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  • 1Department of Molecular Oncology, Genentech, 1 DNA Way, South San Francisco, CA 94080, USA.

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.

PMID:
11039935
[PubMed - indexed for MEDLINE]
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