A mutation in hairless dogs implicates FOXI3 in ectodermal development
A mutation in hairless dogs implicates FOXI3 in ectodermal development
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DOI：
10.1126/science.1162525
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发表时间：
2008-09-12
期刊：
影响因子：
56.9
通讯作者：
Leeb, Tosso
中科院分区：
文献类型：
--
作者：
Droegemueller, Cord;Karlsson, Elinor K.;Leeb, Tosso
墨西哥和秘鲁的无毛犬和中国冠毛犬的特征是缺少毛发和牙齿，这种表型被称为犬外胚层发育不良（CED）。CED作为单基因常染色体半显性性状遗传。通过全基因组关联分析，我们将CED突变定位到17号染色体上的102千碱基对间隔。相关的间隔包含一个以前未知的成员叉头盒转录因子家族（FOXI3），这是专门表达在发展中的头发和牙齿。突变分析显示无毛犬FOXI3编码序列内存在移码突变。因此，我们已经确定FOXI3作为外胚层发育的调节因子。
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.