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PMID: 18787161 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

A mutation in hairless dogs implicates FOXI3 in ectodermal development.

Science (New York, N.Y.) ·Vol. 321 ·No. 5895 ·2008-09-12 ·Pages 1462

Drögemüller C, Karlsson EK, Hytönen MK, Perloski M, Dolf G, Sainio K, Lohi H, Lindblad-Toh K, Leeb T

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.

MeSH Terms
Amino Acid Sequence Animals Chromosome Mapping Dog Diseases/genetics Dogs/genetics Ectoderm/embryology,metabolism Ectodermal Dysplasia/genetics,veterinary Ectodysplasins/metabolism Female Forkhead Transcription Factors/chemistry,genetics,physiology Frameshift Mutation Gene Duplication Hair/embryology,metabolism Haplotypes Male Mice Molecular Sequence Data Mutant Proteins/chemistry,genetics,physiology Pedigree Polymorphism, Single Nucleotide Sequence Analysis, DNA Signal Transduction Tooth/embryology,metabolism Vibrissae/embryology,metabolism
Chemicals
Ectodysplasins Forkhead Transcription Factors Mutant Proteins
Authors & Affiliations
9 authors, click to expand affiliations / ORCID
Drögemüller Cord
University of Berne, 3001 Berne, Switzerland.
Karlsson Elinor K
Hytönen Marjo K
Perloski Michele
Dolf Gaudenz
Sainio Kirsi
Lohi Hannes
Lindblad-Toh Kerstin
Leeb Tosso
Article Info
Journal
Science (New York, N.Y.)
Abbr.
Science
ISSN
1095-9203
Published
2008-09-12
Pages
1462
Language
English
Region
United States
NLM ID
0404511
Subset
IM
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