Human Molecular Genetics, Vol 6, 1589-1594, Copyright © 1997 by Oxford University Press
BM Ferguson, N Brockdorff, E Formstone, T Ngyuen, JE Kronmiller and J Zonana
X-Linked hypohidrotic ectodermal dysplasia (XLHED) is a human congenital
disorder resulting in abnormal tooth, hair and sweat gland development. A
candidate gene for the disorder has been cloned, but the function and full
size of its putative protein product is unclear. We have identified a
candidate cDNA for the mouse Tabby gene (Ta), which, based on phenotype and
syntenic mapping, is postulated to represent the analogous murine disorder.
Mutations have been identified in three different Ta alleles and Northern
analysis indicates that the gene is expressed at increasing levels during
embryogenesis (11-17 days p.c.), the period when affected structures
develop. The putative protein product encoded by exon 1 is highly
homologous (87% identical) to the predicted EDA protein product (135 amino
acids), including the presence of a single transmembrane domain. However,
the murine cDNA also encodes an additional 246 amino acids, which contains
a short collagenous domain (Gly-X-Y)19. This predicted structure is similar
to a number of membrane-associated proteins with either single or multiple
collagenous domains in their extracellular C-terminal regions. Since
mutations can only be identified in 10-15% of families with XLHED, it is
likely that additional homologous exons exist for the human EDA gene.
Hybridization of YACs from the EDA region with the Ta cDNA support this
hypothesis. The predicted extracellular collagenous domain of this membrane
protein may play a key role in epithelial-mesenchymal interactions, defects
of which are thought to underlie the Ta/XLHED phenotype.
ARTICLES
Cloning of Tabby, the murine homolog of the human EDA gene: evidence for a membrane-associated protein with a short collagenous domain
Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland 97201-3098, USA. fergusob@ohsu.edu
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