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Functional analysis of Ectodysplasin-A mutations causing selective tooth agenesis.
European Journal of Human Genetics
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Mutations of the Ectodysplasin-A (EDA) gene are generally associated with the syndrome hypohidrotic ectodermal dysplasia (MIM 305100), but they can also manifest as selective, non-syndromic tooth agenesis (MIM300606). We have performed an in vitro functional analysis of six selective tooth agenesis-causing EDA mutations (one novel and five known) that are located in the C-terminal tumor necrosis factor homology domain of the protein. Our study reveals that expression, receptor binding or signaling capability of the mutant EDA1 proteins is only impaired in contrast to syndrome-causing mutations, which we have previously shown to abolish EDA1 expression, receptor binding or signaling. Our results support a model in which the development of the human dentition, especially of anterior teeth, requires the highest level of EDA-receptor signaling, whereas other ectodermal appendages, including posterior teeth, have less stringent requirements and form normally in response to EDA mutations with reduced activity.
Amino Acid Sequence, Cell Line, Child, DNA Mutational Analysis, Ectodysplasins/chemistry, Ectodysplasins/genetics, Edar Receptor/metabolism, Female, Humans, Male, Models, Molecular, Molecular Sequence Data, Mutant Proteins/metabolism, Mutation/genetics, Pedigree, Phenotype, Sequence Homology, Amino Acid, Tooth Abnormalities/genetics
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