利用荧光素酶报告分析法研究 GWAS 基因位点对人类原代星形胶质细胞中特定基因启动子的顺式调控活性。

IF 1.3 Q4 BIOCHEMICAL RESEARCH METHODS

STAR Protocols Pub Date : 2024-12-20 Epub Date: 2024-09-25 DOI:10.1016/j.xpro.2024.103338

Sheridan H Littleton, Struan F A Grant

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引用次数: 0

摘要

全基因组关联研究的基因位点很可能通过对附近基因的顺式调节来影响疾病风险。我们介绍了一种利用荧光素酶报告实验测量风险变异对人类原代星形胶质细胞中特定基因启动子顺式调节活性的方法。我们介绍了转染、检测和数据分析的步骤。转染可用于验证任何细胞类型中的推定风险变异体。有关使用和执行该方案的完整细节，请参阅 Littleton 等人1。

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Protocol to study cis-regulatory activity of GWAS loci for specific gene promoters in human primary astrocytes using luciferase reporter assay.

Genome-wide association study loci likely influence disease risk through cis-regulation of nearby genes. We present a protocol for measuring the cis-regulatory activity of risk variants on specific gene promoters in human primary astrocytes using luciferase reporter assays. We describe steps for transfection, conducting the assay, and data analysis. The transfection could be adapted to enable validation of putative risk variants in any cell type. For complete details on the use and execution of this protocol, please refer to Littleton et al.¹.

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