Drögemüller Cord, Karlsson Elinor K, Hytönen Marjo K, Perloski Michele, Dolf Gaudenz, Sainio Kirsi, Lohi Hannes, Lindblad-Toh Kerstin, Leeb Tosso
University of Berne, 3001 Berne, Switzerland.
Science. 2008 Sep 12;321(5895):1462. doi: 10.1126/science.1162525.
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.
墨西哥无毛犬、秘鲁无毛犬和中国冠毛犬的特征是毛发和牙齿缺失，这种表型被称为犬外胚层发育不良（CED）。CED作为一种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号染色体上一个102千碱基对的区间。相关区间包含叉头框转录因子家族（FOXI3）中一个此前未被鉴定的成员，该成员在毛发和牙齿发育过程中特异性表达。突变分析揭示了无毛犬中FOXI3编码序列内的一个移码突变。因此，我们已确定FOXI3是外胚层发育的调节因子。
