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首页> 外文期刊>Biochemical Genetics >Cloning and Characterization of the Promoter of the Human AHI1 Gene
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Cloning and Characterization of the Promoter of the Human AHI1 Gene

机译：人AHI1基因启动子的克隆与鉴定

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摘要

The AHI1 gene is involved in axons crossing the midline during development, and its mutation can cause Joubert syndrome and other related neurological system diseases. Its transcriptional regulation mechanism is still unknown. Here we cloned and characterized the upstream 5′ region of the gene. It was shown that 1.3 kb upstream of ATG had the transcription activity. Progressive deletion analysis was done, and all the constructs were transfected into COS7 cells. The promoter activity was determined by fluorescence microscopy, flow cytometry, and reverse transcription polymerase chain reaction. Our results showed that all the constructs had transcription activity. The highest promoter activity was 30 bp upstream of ATG, which included a transcription factor-binding site for Oct-1. Our research provides an important basis for further investigations on the transcriptional regulation of the human AHI1 gene. Keywords Promoter - Human AHI1 gene - Joubert syndrome Xian-Fang Meng and Yi Luo contributed equally to this work.
机译：AHI1基因在发育过程中参与穿越中线的轴突，其突变可导致Joubert综合征和其他相关的神经系统疾病。其转录调控机制仍是未知的。在这里，我们克隆并鉴定了基因的上游5'区域。结果表明，ATG上游1.3 kb具有转录活性。进行渐进式缺失分析，并将所有构建体转染到COS7细胞中。通过荧光显微镜，流式细胞仪和逆转录聚合酶链反应确定启动子活性。我们的结果表明，所有构建体均具有转录活性。最高的启动子活性是ATG上游30 bp，其中包括Oct-1的转录因子结合位点。我们的研究为进一步研究人类AHI1基因的转录调控提供了重要的基础。关键词启动子-人类AHI1基因-乔伯特综合征孟宪芳和罗一平均对这项工作做出了贡献。

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