Publikationsdatum:
2008-09-13
Beschreibung:
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.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Drogemuller, Cord -- Karlsson, Elinor K -- Hytonen, Marjo K -- Perloski, Michele -- Dolf, Gaudenz -- Sainio, Kirsi -- Lohi, Hannes -- Lindblad-Toh, Kerstin -- Leeb, Tosso -- New York, N.Y. -- Science. 2008 Sep 12;321(5895):1462. doi: 10.1126/science.1162525.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉University of Berne, 3001 Berne, Switzerland.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/18787161" target="_blank"〉PubMed〈/a〉
Schlagwort(e):
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
Print ISSN:
0036-8075
Digitale ISSN:
1095-9203
Thema:
Biologie
,
Chemie und Pharmazie
,
Informatik
,
Medizin
,
Allgemeine Naturwissenschaft
,
Physik
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