Drögemüller C, Distl O, Leeb T
Institute of Animal Breeding and Genetics, School of Veterinary Medicine Hannover, 30559 Hannover, Germany.
Genome Res. 2001 Oct;11(10):1699-705. doi: 10.1101/gr.182501.
Anhidrotic ectodermal dysplasia (ED1) 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 ED1 gene coding for ectodysplasin 1 are found. Ectodysplasin 1 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 ED1 gene on BTA Xq22-Xq24. Physical mapping and sequence analysis of the coding parts of the ED1 gene revealed that a large genomic region including exon 3 of the ED1 gene is deleted in cattle with anhidrotic ectodermal dysplasia in a family of German Holstein cattle with three affected maternal half sibs.
无汗性外胚层发育不良(ED1)在人类、小鼠和牛中表现为毛发稀少、汗腺数量减少和切牙先天性缺失。在受影响的人类和小鼠中,发现编码外胚层发育不良蛋白1的ED1基因突变。外胚层发育不良蛋白1是一种新型三聚体跨膜蛋白,具有细胞外肿瘤坏死因子样信号结构域,据信在胎儿发育过程中参与毛囊和牙胚的形成。我们报告了一个480kb的细菌人工染色体(BAC)重叠群的构建,该重叠群在牛的X染色体(BTA)的Xq22-Xq24区域包含完整的牛ED1基因。对ED1基因编码部分的物理图谱绘制和序列分析表明,在一个有三头患病母系半同胞的德国荷斯坦牛家族中,患有无汗性外胚层发育不良的牛中,一个包括ED1基因第3外显子的大基因组区域被删除。