Identification and characterization of a novel polycystin family member, polycystin-L2, in mouse and human: Sequence, expression, alternative splicing, and chromosomal localization
Identification and characterization of a novel polycystin family member, polycystin-L2, in mouse and human: Sequence, expression, alternative splicing, and chromosomal localization
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DOI：
10.1006/geno.2000.6131
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发表时间：
2000-03-15
期刊：
影响因子：
4.4
通讯作者：
Zhou, J
中科院分区：
文献类型：
--
作者：
Guo, L;Schreiber, TH;Zhou, J
多囊蛋白- 1、-2、-L和-REJ是多囊蛋白家族的四个已知成员。在这项研究中，我们描述了该家族的第五个成员，polycytin - l2，由人类的PKD2L2和小鼠的PKD2L2编码。从小鼠和人睾丸中分别获得了多囊蛋白- l2的全长cDNA序列。序列分析预测小鼠和人多囊蛋白l2蛋白分别由621和624个氨基酸残基组成。polycytin - l2与polycytin - l和-2具有显著的同源性，相似度分别为58%和59%。据预测，人和鼠多囊蛋白- l2蛋白都有7个假定的跨膜结构域，与瞬时受体电位通道相比，6个羧基末端的TM结构域可能构成一个离子通道亚基。Northern blot分析表明，小鼠Pkd2l2在睾丸中有丰富的类似于2.5 kb的转录本，在心脏中有丰富的类似于2.2 kb的转录本。RT-PCR分析显示，全长转录本在人脑、肾脏、睾丸和HepG2细胞中均有表达，并且存在3个选择性剪接的差异表达变体。PKD2L2由17个外显子组成，横跨大约50 kb的基因组DNA。PKD2L2被定位到人类染色体5q31上，PKD2L2被定位到小鼠染色体18上的C波段(C) 2000学术出版社。
Polycystins-l, -2, -L, and -REJ are the four known members of the polycystin family of proteins. In this study, we describe a fifth member of the family, polycystin-L2, encoded by PKD2L2 in human and Pkd2l2 in mouse. Full-length cDNA sequences for both mouse and human polycystin-L2 were obtained from testis cDNA. Sequence analysis predicts that the mouse and human polycystin-L2 proteins consist of 621 and 624 amino acid residues, respectively. Polycystin-L2 has significant homology with polycystins-L and -2, with similarities of 58 and 59%, respectively. Both human and murine polycystin-L2 proteins are predicted to have seven putative transmembrane (TM) domains, and, by comparison with transient receptor potential channels, the six carboxyl-terminal TM domains are likely to constitute an ion channel subunit. Northern blot analysis indicated that mouse Pkd2l2 has an abundant similar to 2.5-kb transcript in testis and an similar to 2.2-kb transcript in heart. RT-PCR analysis showed that the full-length transcript is expressed in human brain, kidney, testis, and HepG2 cells, and there are three alternatively spliced variants that were differentially expressed. PKD2L2 consists of 17 exons spanning approximately 50 kb of genomic DNA. PKD2L2 was mapped to human chromosome 5q31 and Pkd2l2 to mouse chromosome 18 in band C. (C) 2000 Academic Press.