Wu G, Mochizuki T, Le T C, Cai Y, Hayashi T, Reynolds D M, Somlo S
Department of Medicine, Albert Einstein College of Medicine, Bronx, New York 10461, USA.
Genomics. 1997 Oct 1;45(1):220-3. doi: 10.1006/geno.1997.4920.
The gene responsible for the second form of autosomal dominant polycystic kidney disease, PKD2, has recently been identified. We now describe the cloning, genomic localization, cDNA sequence, and expression analysis of its murine homologue, Pkd2. The cloned cDNA sequence is 5134 bp long and is predicted to encode a 966-amino-acid integral membrane protein with six membrane-spanning domains and intracellular NH2 and COOH termini. Pkd2 is highly conserved with 91% identity and 98% similarity to polycystin-2 at the amino acid level. Pkd2 mRNA is widely expressed in mouse tissues. Pkd2 maps to mouse Chromosome 5 and is excluded as a candidate gene for previously mapped mouse mutations resulting in a polycystic kidney phenotype.
导致常染色体显性多囊肾病第二种类型的基因PKD2最近已被确定。我们现在描述其小鼠同源基因Pkd2的克隆、基因组定位、cDNA序列及表达分析。克隆的cDNA序列长5134bp，预计编码一个含966个氨基酸的整合膜蛋白，该蛋白有六个跨膜结构域以及细胞内的氨基端和羧基端。Pkd2高度保守，在氨基酸水平上与多囊蛋白-2有91%的同一性和98%的相似性。Pkd2 mRNA在小鼠组织中广泛表达。Pkd2定位于小鼠5号染色体，并且作为先前定位的导致多囊肾表型的小鼠突变的候选基因被排除。
