Molecular cloning, cDNA sequence analysis, and chromosomal localization of mouse Pkd2.
Molecular cloning, cDNA sequence analysis, and chromosomal localization of mouse Pkd2.
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DOI：
10.1006/geno.1997.4920
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发表时间：
1997-10
期刊：
影响因子：
4.4
通讯作者：
G. Wu;T. Mochizuki;T. C. Le;Y. Cai;T. Hayashi;D. Reynolds;S. Somlo
中科院分区：
文献类型：
--
作者：
G. Wu;T. Mochizuki;T. C. Le;Y. Cai;T. Hayashi;D. Reynolds;S. Somlo
常染色体显性遗传性多囊肾病的第二种形式PKD 2的基因最近已被确定。我们现在描述的克隆，基因组定位，cDNA序列和表达分析，其小鼠同源物，Pkd 2。克隆的cDNA序列长5134 bp，预测编码一个966个氨基酸的膜蛋白，具有6个跨膜结构域和胞内NH 2和COOH末端。PKD 2与多囊蛋白-2在氨基酸水平上具有91%的同源性和98%的相似性。Pkd 2 mRNA在小鼠组织中广泛表达。Pkd 2定位于小鼠5号染色体，并被排除为先前定位的导致多囊肾表型的小鼠突变的候选基因。
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.