A mutation in hairless dogs implicates FOXI3 in ectodermal development

Science. 2008 Sep 12;321(5895):1462. doi: 10.1126/science.1162525.

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

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Chromosome Mapping
  • Dog Diseases / genetics*
  • Dogs / genetics*
  • Ectoderm / embryology*
  • Ectoderm / metabolism
  • Ectodermal Dysplasia / genetics
  • Ectodermal Dysplasia / veterinary*
  • Ectodysplasins / metabolism
  • Female
  • Forkhead Transcription Factors / chemistry
  • Forkhead Transcription Factors / genetics*
  • Forkhead Transcription Factors / physiology
  • Frameshift Mutation*
  • Gene Duplication
  • Hair / embryology
  • Hair / metabolism
  • Haplotypes
  • Male
  • Mice
  • Molecular Sequence Data
  • Mutant Proteins / chemistry
  • Mutant Proteins / genetics
  • Mutant Proteins / physiology
  • Pedigree
  • Polymorphism, Single Nucleotide
  • Sequence Analysis, DNA
  • Signal Transduction
  • Tooth / embryology
  • Tooth / metabolism
  • Vibrissae / embryology
  • Vibrissae / metabolism

Substances

  • Ectodysplasins
  • Forkhead Transcription Factors
  • Mutant Proteins