A mutation in hairless dogs implicates FOXI3 in ectodermal development

Drögemüller, Cord; Karlsson, Elinor K; Hytönen, Marjo K; Perloski, Michele; Dolf, Gaudenz; Sainio, Kirsi; Lohi, Hannes; Lindblad-Toh, Kerstin; Leeb, Tosso (2008). A mutation in hairless dogs implicates FOXI3 in ectodermal development. Science, 321(5895), p. 1462. American Association for the Advancement of Science 10.1126/science.1162525

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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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