在人体TUFT1基因中非同义SNP的in silico选
1Human Genetics Research Centre, Sree Balaji Dental College and Hospital, Bharath Institute of Higher Education and Research, Chennai, 600 100, Tamil Nadu, India.
Journal, genetic engineering & biotechnology
|October 6, 2023
概括
这项研究在Tuftelin 1 (TUFT1) 基因中发现了八种高风险的非同义单核酸多态 (nsSNP),该基因对牙面膜发育至关重要. 这些nsSNP可能会对TUFT1蛋白结构和功能产生负面影响,提供潜在的诊断标记.
科学领域:
- 遗传学和基因组学 遗传学和基因组学
- 分子生物学分子生物学
- 生物化学 生物化学
背景情况:
- 图夫特林1 (TUFT1) 基因在牙面膜的发育和矿化中起着至关重要的作用.
- 在TUFT1中识别非同义单核酸多态 (nsSNP) 等遗传变异对于理解膜疾病至关重要.
研究的目的:
- 在TUFT1基因中以计算方式识别功能有害的nsSNP.
- 分析这些nsSNP对蛋白质稳定性,结构和相互作用的预测影响.
主要方法:
- 使用多个in silico工具 (SIFT,PolyPhen-2,PROVEAN,SNPs & GO,PANTHER,SNAP2) 来选有害的nsSNP.
- 评估了蛋白质的稳定性 (I-Mutant 3.0),保护性 (Consurf) 和3D结构 (HOPE项目).
- 分析了蛋白质-蛋白质 (STRING) 和基因-基因 (GeneMANIA) 相互作用,以及突变对稳定性/灵活性的影响 (DynaMut).
主要成果:
- 在TUFT1.1中确定了八种高风险有害的nsSNP.
- 预计这些nsSNP会降低蛋白质的稳定性并改变氨基酸的特性,其中大多数位于保护区域.
- 预测的相互作用揭示了TUFT1参与质矿化和牙生成途径.
结论:
- 通过计算识别了8个对TUFT1结构和功能的有害影响的功能性nsSNP.
- 这些发现为疾病诊断和与TUFT1功能障碍相关的治疗标提供了潜在的候选标记.
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