Human Molecular Genetics, Vol 8, 2079-2086, Copyright © 1999 by Oxford University Press
S Ezer, M Bayes, O Elomaa, D Schlessinger and J Kere
Anhidrotic ectodermal dysplasia (EDA) is a human genetic disorder of
impaired ectodermal appendage development. The EDA gene encodes isoforms of
a novel transmembrane protein, ectodysplasin. The sequence of the longest
isoform includes an interrupted collagenous domain of 19 Gly-X-Y repeats
and a motif conserved in the tumor necrosis factor (TNF)-related ligand
family. In order to understand better the function of the ectodysplasin
protein molecule and its domains, we have studied the processing and
localization of wild-type and mutated isoforms in transfected human fetal
kidney 293 and monkey kidney COS-1 cells. Similar to other members of
collagenous membrane proteins and members of TNF-related ligands,
ectodysplasin is a type II membrane protein and it forms trimers. The
membrane localization of ectodysplasin is asymmetrical: it is found on the
apical and lateral surfaces of the cells where it co-localizes with
cytoskeletal structures. The TNF-like motif and cysteines found near the
C-terminus are necessary for correct transport to the cell membrane, but
the intracellular and collagenous domains are not required for the
localization pattern. Our results suggest that ectodysplasin is a new
member in the TNF-related ligand family involved in the early
epithelial-mesenchymal interaction that regulates ectodermal appendage
formation.
ARTICLES
Ectodysplasin is a collagenous trimeric type II membrane protein with a tumor necrosis factor-like domain and co-localizes with cytoskeletal structures at lateral and apical surfaces of cells
Department of Medical Genetics, Haartman Institute and.
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