Ezer S, Schlessinger D, Srivastava A, Kere J
Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland.
Hum Mol Genet. 1997 Sep;6(9):1581-7. doi: 10.1093/hmg/6.9.1581.
Anhidrotic ectodermal dysplasia (EDA) is a rare X-linked recessive disorder characterized by the absence or hypoplasia of hair, teeth and sweat glands. The gene responsible for the disorder has recently been cloned. The predicted gene product is a 135 amino acid protein with no significant homology to previously known proteins. As a first step to analyze function, we have studied the subcellular localization of the EDA gene product expressed in two epithelial cell lines, COS-1 and MCF-7. Biochemical fractionation and confocal imaging analysis show that, in agreement with a single putative transmembrane domain inferred from its sequence, the EDA protein is transported to the plasma membrane. Moreover, in MCF-7 cells expression of EDA is associated with rounding and detachment of the cells. These results suggest that the EDA protein may be involved in cellular dynamics or signaling.
无汗性外胚层发育不良（EDA）是一种罕见的X连锁隐性疾病，其特征是毛发、牙齿和汗腺缺失或发育不全。导致该疾病的基因最近已被克隆。预测的基因产物是一种135个氨基酸的蛋白质，与先前已知的蛋白质没有明显的同源性。作为分析功能的第一步，我们研究了在两种上皮细胞系COS-1和MCF-7中表达的EDA基因产物的亚细胞定位。生化分级分离和共聚焦成像分析表明，与其序列推断的单个推定跨膜结构域一致，EDA蛋白被转运到质膜。此外，在MCF-7细胞中，EDA的表达与细胞的变圆和脱离有关。这些结果表明，EDA蛋白可能参与细胞动力学或信号传导。
