Partial deletion of the bovine ED1 gene causes anhidrotic ectodermal dysplasia in cattle
Partial deletion of the bovine ED1 gene causes anhidrotic ectodermal dysplasia in cattle
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DOI：
10.1101/gr.182501
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发表时间：
2001-10-01
期刊：
影响因子：
7
通讯作者：
Leeb, T
中科院分区：
文献类型：
--
作者：
Drögemüller, C;Distl, O;Leeb, T
无汗性外胚层发育不良(EDI)的特征是人、鼠和牛的毛发减少、汗腺数量减少和缺牙。在受影响的人类和小鼠中，发现了编码外异构体蛋白I的EDI基因突变。外周血球蛋白I是一种新的三聚体跨膜蛋白，具有细胞外肿瘤坏死因子样信号转导结构域，被认为参与了胎儿发育过程中毛囊和牙芽的形成。我们报道了在BTA Xq22-Xq24上构建了一个480kb的BAC重叠群，该重叠群含有完整的牛EDI基因。对EDI基因编码区的物理定位和序列分析表明，在一个德国荷斯坦牛家系中，患有无汗性外胚层发育不良的牛的EDI基因的一个大的基因组区域缺失，包括EDI基因外显子3。
Anhidrotic ectodermal dysplasia (EDI) is characterized by hypotrichosis, reduced number of sweat glands, and incisior anodontia in human, mouse, and cattle. In affected humans and mice, mutations in the EDI gene coding for ectodysplasin I are found. Ectodysplasin I is a novel trimeric transmembrane protein with an extracellular TNF-like signaling domain that is believed to be involved in the formation of hair follicles and tooth buds during fetal development. We report the construction of a 480-kb BAC contig harboring the complete bovine EDI gene on BTA Xq22-Xq24. Physical mapping and sequence analysis of the coding parts of the EDI gene revealed that a large genomic region including exon 3 of the EDI gene is deleted in cattle with anhidrotic ectodermal dysplasia in a family of German Holstein cattle with three affected maternal half sibs.