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In silico characterization of functional SNP within the oestrogen receptor gene

机译:雌激素受体基因内功能性SNP的计算机表征

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Single-nucleotide polymorphism (SNP) association studies have become crucial in uncovering the genetic correlations of genomic variants with complex diseases, quantitative traits and physiological responses to drugs. However, the identificationof SNPs responsible for specific phenotypes is a difficult problem to solve, requiring multiple testing of hundreds or thousands of SNPs in candidate genes. In this study, we performed an analysis of the genetic variations that can alter the structure and function of oestrogen receptor ?± using different computational tools. Among the nonsynonymous SNPs, a total of four SNPs were found to be damaging by both a sequence homology-based tool (SIFT) and a structural homology-based method (polyphen-2, SNAP), as well as by the ESEfinder program, and one nonsense nsSNP was found. For noncoding SNPs, we found that one SNP in 5'UTR may potentially change protein expression level, nine SNPs were found to affect miRNA binding site and 28 SNPs might affect transcriptional regulation of the ESR1 gene. Reviewing the literature, 89 SNPs were found to be functional among which only four were located in exons.
机译:单核苷酸多态性(SNP)关联研究对于揭示基因组变异与复杂疾病,定量特征和对药物的生理反应的遗传相关性至关重要。然而,鉴定负责特定表型的SNP是一个难以解决的问题,需要对候选基因中数百或数千个SNP进行多次测试。在这项研究中,我们使用不同的计算工具对可以改变雌激素受体β±的结构和功能的遗传变异进行了分析。在非同义SNP中,发现总共有四个SNP受基于序列同源性的工具(SIFT)和基于结构同源性的方法(polyphen-2,SNAP)以及ESEfinder程序的破坏。发现一个无意义的nsSNP。对于非编码SNP,我们发现5'UTR中的一个SNP可能改变蛋白质表达水平,发现9个SNP影响miRNA结合位点,而28个SNP可能影响ESR1基因的转录调控。回顾文献,发现有89个SNP具有功能,其中只有4个位于外显子中。

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