Science · 2008 · 158 citations · 4 references
Life SciencesGeneticsMolecular GeneticsHuman GeneticsMorphogenesisOrganogenesisDevelopmental Dental AnomaliesEctodermal DifferentiationEctodermal DysplasiasHair DisordersTooth DevelopmentEctoderm DevelopmentEctodermal Dysplasia SyndromesEctodermal MorphogenesisForkhead Box ProteinsFrameshift MutationsMonogenic SyndromesMutationPoint Mutation Analysis
Mexican and Peruvian hairless dogs and Chinese crested dogs are characterized by missing hair and teeth, a phenotype termed canine ectodermal dysplasia (CED). CED is inherited as a monogenic autosomal semidominant trait. With genomewide association analysis we mapped the CED mutation to a 102-kilo-base pair interval on chromosome 17. The associated interval contains a previously uncharacterized member of the forkhead box transcription factor family (FOXI3), which is specifically expressed in developing hair and teeth. Mutation analysis revealed a frameshift mutation within the FOXI3 coding sequence in hairless dogs. Thus, we have identified FOXI3 as a regulator of ectodermal development.
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