N-Terminal Deletion in a Desmosomal Cadherin Causes the Autosomal Dominant Skin Disease Striate Palmoplantar Keratoderma
1999
The N-terminal extracellular domain of the cadherins, calcium-dependent cell adhesion molecules, has beenshown by X-ray crystallography to be involved in two types of interaction: lateral strand dimers and adhesivedimers. Here we describe the first human mutation in a cadherin present in desmosome cell junctions thatremoves a portion of this highly conserved first extracellular domain. The mutation, in the DSG1gene coding fora desmoglein (Dsg1), results in the deletion of the first and much of the second ββββ-strand of the first cadherinrepeatandpartofthefirstCa
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