The PKD1 gene produces a developmentally regulated protein in mesenchyme and vasculature.
The PKD1 gene produces a developmentally regulated protein in mesenchyme and vasculature.
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PKD1 基因在间充质和脉管系统中产生发育调节蛋白。
DOI：
10.1038/nm0495-359
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发表时间：
1995
期刊：
影响因子：
82.9
通讯作者：
Frank,D
中科院分区：
文献类型：
--
作者：
VanAdelsberg,JS;Frank,D
常染色体显性遗传性多囊肾病（Autosomal dominant polycystic kidney disease，ADPKD）是人类最常见的遗传病之一。除了多囊肾，这种疾病还可引起肝脏和其他器官的囊性变化，心脏瓣膜功能不全和脑动脉瘤。使用针对PKD 1的预测基因产物的抗体，该基因产物在约85%的ADPKD病例中突变，我们表明PKD 1是定位于肾、肝和脑血管的细胞外基质的530-kD蛋白。我们发现PKD 1蛋白在发育中的肾脏和肝脏的间充质中高度表达，短暂定位于发育中的肾小球和肾小球器，并局限于血管周围，成人肾皮质的肾小球外区域。这些数据表明PKD 1蛋白在肾脏和肝脏形态发生中起作用。
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common human genetic diseases. In addition to polycystic kidneys, the disease can cause cystic changes in liver and other organs, cardiac valvular insufficiency and cerebral arterial aneurysms. Using antibodies raised against the predicted gene product of PKD1, which is mutated in about 85% of ADPKD cases, we show that PKD1 is a 530-kD protein localized to the extracellular matrix of kidney, liver and cerebral blood vessels. We discovered that the PKD1 protein was highly expressed in the mesenchyme of developing kidney and liver, transiently localized in the developing glomerulus and juxtaglomerular apparatus and restricted to perivascular, extraglomerular areas in adult renal cortex. These data suggest that the PKD1 protein plays a role in renal and hepatic morphogenesis.