title: A mutation in hairless dogs implicates FOXI3 in ectodermal development.
abstract: 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.
authors.affiliation: University of Berne, 3001 Berne, Switzerland.
authors.forename: Cord
authors.initials: C
authors.lastname: Drögemüller
authors.forename: Elinor K
authors.initials: EK
authors.lastname: Karlsson
authors.forename: Marjo K
authors.initials: MK
authors.lastname: Hytönen
authors.forename: Michele
authors.initials: M
authors.lastname: Perloski
authors.forename: Gaudenz
authors.initials: G
authors.lastname: Dolf
authors.forename: Kirsi
authors.initials: K
authors.lastname: Sainio
authors.forename: Hannes
authors.initials: H
authors.lastname: Lohi
authors.forename: Kerstin
authors.initials: K
authors.lastname: Lindblad-Toh
authors.forename: Tosso
authors.initials: T
authors.lastname: Leeb
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D002874:Chromosome Mapping; D004283:Dog Diseases / Q000235:genetics*; D004285:Dogs / Q000235:genetics*; D004475:Ectoderm / Q000196:embryology* / Q000378:metabolism; D004476:Ectodermal Dysplasia / Q000235:genetics / Q000662:veterinary*; D053331:Ectodysplasins / Q000378:metabolism; D005260:Female; D051858:Forkhead Transcription Factors / Q000737:chemistry / Q000235:genetics* / Q000502:physiology; D016368:Frameshift Mutation; D020440:Gene Duplication; D006197:Hair / Q000196:embryology / Q000378:metabolism; D006239:Haplotypes; D008297:Male; D051379:Mice; D008969:Molecular Sequence Data; D050505:Mutant Proteins / Q000737:chemistry / Q000235:genetics / Q000502:physiology; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA; D015398:Signal Transduction; D014070:Tooth / Q000196:embryology / Q000378:metabolism; D014738:Vibrissae / Q000196:embryology / Q000378:metabolism
chemical_list: D053331:Ectodysplasins; D051858:Forkhead Transcription Factors; D050505:Mutant Proteins