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Science 12 September 2008:
Vol. 321. no. 5895, p. 1462
DOI: 10.1126/science.1162525

Brevia

A Mutation in Hairless Dogs Implicates FOXI3 in Ectodermal Development

Cord Drögemüller,1 Elinor K. Karlsson,2 Marjo K. Hytönen,3,4 Michele Perloski,2 Gaudenz Dolf,1 Kirsi Sainio,3 Hannes Lohi,4 Kerstin Lindblad-Toh,2,5 Tosso Leeb1*

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.

1 University of Berne, 3001 Berne, Switzerland.
2 Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA 02142, USA.
3 Institute of Biomedicine, 00014 Helsinki, Finland.
4 University of Helsinki, 00014 Helsinki, Finland.
5 Uppsala University, 75124 Uppsala, Sweden.

* To whom correspondence should be addressed. E-mail: Tosso.Leeb{at}itz.unibe.ch

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Science. ISSN 0036-8075 (print), 1095-9203 (online)