Peters D J, Spruit L, Klingel R, Prins F, Baelde H J, Giordano P C, Bernini L F, de Heer E, Breuning M H, Bruijn J A
Department of Human Genetics, Sylvius Laboratories, Leiden University, The Netherlands.
Lab Invest. 1996 Aug;75(2):221-30.
The polycystic kidney disease-1 gene, which is mutated in the majority of patients with autosomal dominant polycystic kidney disease, has been identified. The protein encoded by this gene, polycystin, has no homology with any gene known thus far. To gain more insight into the function of polycystin, we raised antibodies against synthetic peptides and a fusion protein corresponding to the sequence of two different fragments of polycystin. Two of the antibodies were capable of immunoprecipitating an in vitro transcription and translation product corresponding to a fragment of polycystin. In the cyst-lining epithelium of polycystic kidney disease-1 patients, a strong staining was observed. In normal adult and embryonic kidney tissues, expression was seen in the epithelium of all tubular structures and in the glomerular parietal and visceral epithelium (podocytes), although the podocytes were mainly recognized on cryosections and not on paraffin sections. A double-labeled immunofluorescence with one of the polycystin antibodies and the monoclonal antibody 8G8 ascertained that within the glomerular tuft podocytes were recognized.
已鉴定出多囊肾病-1基因，大多数常染色体显性多囊肾病患者存在该基因的突变。该基因编码的蛋白质多囊蛋白与迄今已知的任何基因均无同源性。为了更深入了解多囊蛋白的功能，我们制备了针对合成肽和对应于多囊蛋白两个不同片段序列的融合蛋白的抗体。其中两种抗体能够免疫沉淀与多囊蛋白片段相对应的体外转录和翻译产物。在多囊肾病-1患者的囊肿衬里上皮中，观察到强染色。在正常成人和胚胎肾脏组织中，在所有管状结构的上皮以及肾小球壁层和脏层上皮（足细胞）中均可见表达，尽管足细胞主要在冷冻切片上而非石蜡切片上被识别。用其中一种多囊蛋白抗体和单克隆抗体8G8进行的双标记免疫荧光确定在肾小球丛内可识别足细胞。
