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在人体MCM6基因中错误单核酸多态的功能,结构和病原性分析

Md Mostafa Kamal¹, Md Sohel Mia¹, Md Omar Faruque¹

¹Department of Nutrition and Food Technology, Jashore University of Science and Technology, Jashore, 7408, Bangladesh.

Scientific reports

|May 21, 2024

概括

MCM6基因中的单核酸多态 (SNP) 可以改变蛋白质结构和功能,可能影响DNA复制和癌症. 这项研究确定了几种高风险的MCM6误解SNP,这些SNP破坏了蛋白质的稳定性,为疾病机制提供了洞察力.

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:

单核酸多态性 (SNP) 是人类疾病发病的关键决定因素.
微染色体维护 (MCM) 复合体对于细胞增殖和瘤发生至关重要.
MCM6误解SNP对DNA复制和癌症的影响仍然不太清楚.

研究的目的:

通过计算阐明MCM6基因中的误解SNP如何影响蛋白质结构和功能.
为了识别有害和与疾病相关的MCM6误解突变.

主要方法:

使用了基于序列和结构的计算工具 (SIFT,dbSNP,DynaMut2).
进行分子动力学 (MD) 模拟来分析蛋白质的稳定性和结构完整性.
在MCM6蛋白域内分析了SNP分布.

主要成果:

在MCM6中确定了642个误解SNP,其中33个由SIFT预测是有害的.
11个错误的SNP被标记为有害和与疾病相关的;8个非常有害.
预计六个错误的SNP (I123S,R207C,V456M,D463G,R602H,R633W) 将破坏MCM6蛋白的稳定性.
模拟MD发现突变改变蛋白质结构和稳定性,五个高风险突变位于关键域 (PF00493,PF14551).

结论:

在MCM6中错误的SNP可以显著改变蛋白质的结构,稳定性和功能.
确定了高风险的MCM6突变,为了解它们在DNA复制和瘤发生中的作用提供了基础.
这些发现指导了进一步的研究,以减轻这些遗传变异的有害影响.

关键词:

没有意义的SNP.病原性预测和计算工具.单个核酸的多态性.

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