Schönbächler M, Horvath A, Fassler J, Riezman H
Biozentrum, University of Basel, Switzerland.
EMBO J. 1995 Apr 18;14(8):1637-45. doi: 10.1002/j.1460-2075.1995.tb07152.x.
The protein encoded by the yeast gene SPT14 shows high sequence similarity to the human protein, PIG-A, whose loss of activity is at the origin of the disease paroxysmal nocturnal hemoglobinuria. The symptoms of this disease are apparently due to a loss of cell surface, glycosylphosphatidylinositol (GPI)-anchored proteins. Like PIG-A mutant cells, spt14 mutant cells are defective in GPI anchoring due to a defect in the synthesis of GlcNAc-PI, the first step of GPI synthesis. The spt14 mutant causes several other abnormalities including transcriptional defects and a downregulation of inositolphosphoceramide synthesis. We suggest that these defects are indirect results of the loss of GPI anchoring.
酵母基因SPT14编码的蛋白质与人类蛋白质PIG-A具有高度的序列相似性,PIG-A活性丧失是阵发性夜间血红蛋白尿症的病因。这种疾病的症状显然是由于细胞表面糖基磷脂酰肌醇(GPI)锚定蛋白的缺失所致。与PIG-A突变细胞一样,spt14突变细胞由于GPI合成第一步GlcNAc-PI合成缺陷而在GPI锚定方面存在缺陷。spt14突变会导致其他几种异常情况,包括转录缺陷和肌醇磷酸神经酰胺合成的下调。我们认为这些缺陷是GPI锚定丧失的间接结果。