Peters D J, van de Wal A, Spruit L, Saris J J, Breuning M H, Bruijn J A, de Heer E
Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
J Pathol. 1999 Aug;188(4):439-46. doi: 10.1002/(SICI)1096-9896(199908)188:4<439::AID-PATH367>3.0.CO;2-P.
Autosomal dominant polycystic kidney disease (ADPKD) is characterized by the formation of fluid-filled cysts in both kidneys, in addition to a variety of extra-renal manifestations. The PKD1 gene product, polycystin-1, encodes a novel protein with a putative role in cell-cell/cell-matrix interactions. The present study we focused on the (sub)cellular localization of polycystin-1 in cultured cells, and on its tissue distribution in various organs. In Madin Darby canine kidney (MDCK) cells, several polyclonal antibodies showed intense staining at the sites of interaction between adjacent cells, which remained after Triton extraction. Weak cytoplasmic staining was observed. No signal was detected at the free borders of cell aggregates, supporting a role for polycystin-1 in cell-cell interactions. At the tissue level, polycystin-1 expression was observed in specific cell types in tissues with known manifestations of the disease, but also in tissues of organs which have not been reported to be affected in ADPKD. Expression was frequently seen in epithelia, but also in endocrine cells (pancreatic islets, parathyroid-producing cells, clusters in the adenohypophysis, clusters in the adrenal gland, and Leydig cells in the testis). In addition, expression was observed in myocardium and more weakly in myocytes of cardiac valves, of the cerebral arteries, and of skeletal muscles.
常染色体显性多囊肾病(ADPKD)的特征是双肾出现充满液体的囊肿,此外还有多种肾外表现。PKD1基因产物多囊蛋白-1编码一种新型蛋白质,推测其在细胞-细胞/细胞-基质相互作用中发挥作用。本研究聚焦于多囊蛋白-1在培养细胞中的(亚)细胞定位及其在各器官中的组织分布。在麦迪逊-达比犬肾(MDCK)细胞中,几种多克隆抗体在相邻细胞的相互作用位点显示出强烈染色,经Triton提取后仍保留。观察到微弱的细胞质染色。在细胞聚集体的自由边界未检测到信号,这支持了多囊蛋白-1在细胞-细胞相互作用中的作用。在组织水平上,在已知有该疾病表现的组织中的特定细胞类型中观察到多囊蛋白-1的表达,但在尚未报道受ADPKD影响的器官组织中也有表达。表达常见于上皮细胞,也见于内分泌细胞(胰岛、甲状旁腺产生细胞、腺垂体中的细胞簇、肾上腺中的细胞簇以及睾丸中的Leydig细胞)。此外,在心肌中观察到表达,在心脏瓣膜、脑动脉和骨骼肌的心肌细胞中表达较弱。