Mochizuki T, Wu G, Hayashi T, Xenophontos S L, Veldhuisen B, Saris J J, Reynolds D M, Cai Y, Gabow P A, Pierides A, Kimberling W J, Breuning M H, Deltas C C, Peters D J, Somlo S
Renal Division, Department of Medicine and Molecular Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA.
Science. 1996 May 31;272(5266):1339-42. doi: 10.1126/science.272.5266.1339.
A second gene for autosomal dominant polycystic kidney disease was identified by positional cloning. Nonsense mutations in this gene (PKD2) segregated with the disease in three PKD2 families. The predicted 968-amino acid sequence of the PKD2 gene product has six transmembrane spans with intracellular amino- and carboxyl-termini. The PKD2 protein has amino acid similarity with PKD1, the Caenorhabditis elegans homolog of PKD1, and the family of voltage-activated calcium (and sodium) channels, and it contains a potential calcium-binding domain.
通过定位克隆鉴定出了常染色体显性多囊肾病的第二个基因。该基因（PKD2）中的无义突变在三个PKD2家族中与疾病共分离。PKD2基因产物预测的968个氨基酸序列有六个跨膜结构域，其氨基末端和羧基末端位于细胞内。PKD2蛋白与PKD1、秀丽隐杆线虫PKD1的同源物以及电压激活钙（和钠）通道家族在氨基酸上具有相似性，并且它含有一个潜在的钙结合结构域。
