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Related Concept Videos

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Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Related Experiment Video

Updated: Jul 1, 2026

Flat Mount Imaging of Mouse Skin and Its Application to the Analysis of Hair Follicle Patterning and Sensory Axon Morphology
13:58

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Published on: June 25, 2014

A mutation in hairless dogs implicates FOXI3 in ectodermal development.

Cord Drögemüller1, Elinor K Karlsson, Marjo K Hytönen

  • 1University of Berne, 3001 Berne, Switzerland.

Science (New York, N.Y.)
|September 13, 2008
PubMed
Summary

Canine ectodermal dysplasia (CED), causing hair and tooth loss in breeds like Chinese crested dogs, is linked to a FOXI3 gene mutation. This discovery identifies FOXI3 as a key regulator of ectodermal development in dogs.

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Area of Science:

  • Genetics
  • Developmental Biology
  • Canine Science

Background:

  • Canine ectodermal dysplasia (CED) is a genetic disorder affecting hair and tooth development.
  • This phenotype is observed in breeds such as Mexican and Peruvian hairless dogs and Chinese crested dogs.
  • CED follows a monogenic autosomal semidominant inheritance pattern.

Purpose of the Study:

  • To identify the genetic mutation responsible for canine ectodermal dysplasia (CED).
  • To understand the role of specific genes in ectodermal development.

Main Methods:

  • Genomewide association analysis was employed to locate the mutation.
  • The canine chromosome 17 was analyzed for associated genetic intervals.
  • Mutation analysis of the FOXI3 gene was performed in affected dogs.

Main Results:

  • The CED mutation was mapped to a 102-kilobase pair interval on chromosome 17.
  • A previously uncharacterized forkhead box transcription factor gene, FOXI3, was identified within this interval.
  • A frameshift mutation in the FOXI3 coding sequence was found in hairless dogs.

Conclusions:

  • The FOXI3 gene is identified as a critical regulator of ectodermal development.
  • Mutations in FOXI3 cause canine ectodermal dysplasia, leading to hair and tooth loss.
  • This finding provides insight into the genetic basis of ectodermal development in mammals.