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首页> 外文期刊>Genomics >Characterization of novel promoter and enhancer elements of the mouse homologue of the Dent disease gene, CLCN5, implicated in X-linked hereditary nephrolithiasis.
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Characterization of novel promoter and enhancer elements of the mouse homologue of the Dent disease gene, CLCN5, implicated in X-linked hereditary nephrolithiasis.

机译：Dent病基因CLCN5的小鼠同源物的新型启动子和增强子元件的表征，与X连锁遗传性肾结石症有关。

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摘要

The murine homologue of the human chloride channel gene, CLCN5, defects in which are responsible for Dent disease, has been cloned and characterized. We isolated the entire coding region of mouse Clcn5 cDNA and approximately 45 kb of genomic sequence embracing the gene. To study its transcriptional control, the 5' upstream sequences of the mouse Clcn5 gene were cloned into a luciferase reporter vector. Deletion analysis of 1.5 kb of the 5' flanking sequence defined an active promoter region within 128 bp of the putative transcription start site, which is associated with a TATA motif but lacks a CAAT consensus. Within this sequence, there is a motif with homology to a purine-rich sequence responsible for the kidney-specific promoter activity of the rat CLC-K1 gene, another member of the chloride-channel gene family expressed in kidney. An enhancer element that confers a 10- to 20-fold increase in the promoter activity of the mouse Clcn5 gene was found within the first intron. The organization of the human CLCN5 and mouse Clcn5 gene structures is highly conserved, and the sequence of the murine protein is 98% similar to that of human, with its highest expression seen in the kidney. This study thus provides the first identification of the transcriptional control region of, and the basis for an understanding of the regulatory mechanism that controls, this kidney-specific, chloride-channel gene. Copyright 1999 Academic Press.
机译：已经克隆并鉴定了人类氯化物通道基因CLCN5的鼠类同源物，其中的缺陷是造成Dent疾病的原因。我们分离了小鼠Clcn5 cDNA的整个编码区和约45 kb的基因序列。为了研究其转录控制，将小鼠Clcn5基因的5'上游序列克隆到萤光素酶报道载体中。 1.5kb的5'侧翼序列的缺失分析在推定的转录起始位点的128bp之内定义了一个活性启动子区域，该区域与TATA基序相关但缺乏CAAT共识。在该序列内，有一个与富含嘌呤的序列同源的基序，该序列负责大鼠CLC-K1基因（在肾脏中表达的氯离子通道基因家族的另一个成员）的肾脏特异性启动子活性。在第一个内含子中发现了一种增强子元件，其使小鼠Clcn5基因的启动子活性提高了10至20倍。人CLCN5和小鼠Clcn5基因结构的组织高度保守，鼠蛋白的序列与人的序列相似，为98％，在肾脏中表达最高。因此，这项研究提供了该转录调控区的首次鉴定，并为了解控制该肾脏特异性氯通道基因的调控机制奠定了基础。版权所有1999 Academic Press。

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