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.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Amino Acid Sequence
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Animals
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Chromosome Mapping
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Dog Diseases / genetics*
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Dogs / genetics*
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Ectoderm / embryology*
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Ectoderm / metabolism
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Ectodermal Dysplasia / genetics
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Ectodermal Dysplasia / veterinary*
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Ectodysplasins / metabolism
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Female
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Forkhead Transcription Factors / chemistry
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Forkhead Transcription Factors / genetics*
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Forkhead Transcription Factors / physiology
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Frameshift Mutation*
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Gene Duplication
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Hair / embryology
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Hair / metabolism
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Haplotypes
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Male
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Mice
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Molecular Sequence Data
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Mutant Proteins / chemistry
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Mutant Proteins / genetics
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Mutant Proteins / physiology
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Pedigree
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Polymorphism, Single Nucleotide
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Sequence Analysis, DNA
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Signal Transduction
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Tooth / embryology
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Tooth / metabolism
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Vibrissae / embryology
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Vibrissae / metabolism
Substances
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Ectodysplasins
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Forkhead Transcription Factors
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Mutant Proteins