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A mutation in hairless dogs implicates FOXI3 in ectodermal development

Drögemüller, Cord (author)
Karlsson, Elinor K (author)
Hytönen, Marjo K (author)
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Perloski, Michele (author)
Dolf, Gaudenz (author)
Sainio, Kirsi (author)
Lohi, Hannes (author)
Lindblad-Toh, Kerstin (author)
Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi
Leeb, Tosso (author)
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 (creator_code:org_t)
American Association for the Advancement of Science (AAAS), 2008
2008
English.
In: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 321:5895, s. 1462-
  • Journal article (peer-reviewed)
Abstract Subject headings
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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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NATURAL SCIENCES
NATURVETENSKAP

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