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在EPOR基因中探索有害误解非同义SNP的结构和功能后果:一种计算方法

Elshazali Widaa Ali¹, Khalid Mohamed Adam¹, Mohamed E Elangeeb¹

¹Department of Medical Laboratory Sciences, College of Applied Medical Sciences, University of Bisha, P.O. Box 551, Bisha 67714, Saudi Arabia.

Journal of personalized medicine

|November 26, 2024

概括

两种特定的EPOR基因突变,R223P和G302S被确定为有害的,通过影响红素受体蛋白的功能和稳定性,可能导致血液学疾病.

科学领域:

遗传学和分子生物学
生物信息学是一种生物信息学.
血液学血液学血液学

背景情况:

红素受体 (EPOR) 基因的突变破坏了信号通路.
这些干扰与血液学疾病,如真多细胞血症和骨髓增殖性疾病有关.

研究的目的:

以计算方式评估误解非同义单核酸多态 (nsSNP) 对EPOR蛋白结构和功能的影响.
识别特定的nsSNP可能是致病的,并导致疾病.

主要方法:

使用了一套生物信息学工具 (SIFT,PolyPhen-2,SNAP2,SNPs & Go,PhD-SNP,I-Mutant2.0,MuPro,MutPred,ConSurf,HOPE,Interpro) 来预测nsSNP的影响.
进行了分子动力学模拟 (MDS),以评估与野生类型相比,突变EPOR变体的结构变化.

主要成果:

确定了两个nsSNP,R223P和G302S,作为有害的,显著影响EPOR蛋白质结构和功能.
两种R223P和G302S的替代发生在保护区域,并预测是致病的,改变分子机制.
与稳定的野生类型EPOR相比,MDS揭示了G302S和R223P变体的实质性结构偏差和降低稳定性.

结论:

计算分析发现EPOR基因中的R223P和G302S nsSNP是有害的.
这些nsSNP发生在高度保护的区域,并显著影响EPO-R蛋白质的结构和功能.
这些发现表明这些特定的EPOR nsSNP在血液学疾病中的潜在致病作用.

关键词:

对于EPOR基因来说,这是一个很大的问题.红色素蛋白受体的受体是什么非同义词的单核酸多态.

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