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预测 TSGA10 基因高度有害的非同义变异的功能影响
Zeinab Jamali1, Mahsa Zargar1, Mohammad Hossein Modarressi1
1Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
Molecular biology research communications
|January 2, 2025
概括
这项研究使用in-silico工具在TSGA10基因中确定了15种高度有害的nsSNP. 这些突变影响TSGA10功能,对于理解不孕症和癌症至关重要.
科学领域:
- 遗传学 遗传学 是一个
- 分子生物学分子生物学
- 生物信息学是一种生物信息学.
背景情况:
- 丸特定基因抗原10 (TSGA10) 蛋白质对于精子生成至关重要,并与各种癌症有关.
- TSGA10基因的删除或突变与固体瘤和白血病中的非阻塞性不孕症和异常蛋白质表达有关.
- 非同义单核酸多态 (nsSNP) 对TSGA10结构和功能的确切影响仍然不清楚.
研究的目的:
- 在TSGA10基因中以计算方式识别高度有害的nsSNP.
- 预测这些nsSNP对TSGA10蛋白结构和相互作用的功能影响.
- 为针对TSGA10在不孕症和癌症中的作用进行有针对性的实验研究提供基础.
主要方法:
- 使用多种机器学习算法和预测工具 (SIFT,PROVEAN,PolyPhen-2,SNAP2,SNPs & GO,PhD-SNP,I-mutant 3.0,MUpro,SNPeffect 4.0,MutationTaster,CADD) 采用了两步的在体选程序.
- 预测的破坏性变体的3D结构是使用Phyre2.2建模的.
- 分析的重点是识别影响蛋白质功能和相互作用领域的nsSNP.
主要成果:
- 在TSGA10.10中,十五种氨基酸变化被预测为最有害的nsSNP.
- 一些已识别的突变 (S563P,E578K,Q580P,R638L/C/G/S,L648R,R649C/H) 位于已知与HIF1-A.相互作用的域内.
- 在固酶域内发现了其他重要的变异 (D62Y,R105G,D106V,D111Y).
结论:
- 已识别的nsSNP显著影响TSGA10蛋白的结构和功能.
- 这些计算预测的有害突变为未来的实验研究提供了有价值的目标.
- 了解这些TSGA10变异可以促进男性不孕症和癌症发病的研究.
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