Human Molecular Genetics, Vol 6, 1581-1587, Copyright © 1997 by Oxford University Press
S Ezer, D Schlessinger, A Srivastava and J Kere
Anhidrotic ectodermal dysplasia (EDA) is a rare X-linked recessive disorder
characterized by the absence or hypoplasia of hair, teeth and sweat glands.
The gene responsible for the disorder has recently been cloned. The
predicted gene product is a 135 amino acid protein with no significant
homology to previously known proteins. As a first step to analyze function,
we have studied the subcellular localization of the EDA gene product
expressed in two epithelial cell lines, COS-1 and MCF- 7. Biochemical
fractionation and confocal imaging analysis show that, in agreement with a
single putative transmembrane domain inferred from its sequence, the EDA
protein is transported to the plasma membrane. Moreover, in MCF-7 cells
expression of EDA is associated with rounding and detachment of the cells.
These results suggest that the EDA protein may be involved in cellular
dynamics or signaling.
ARTICLES
Anhidrotic ectodermal dysplasia (EDA) protein expressed in MCF-7 cells associates with cell membrane and induces rounding
Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland.
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