利用硅内工具评估与自闭症相关的 CDH8 和 CDH10 基因 SNP

Azadeh Rezaeirad, Ö. Karasakal, Tuğba Kaman, Mesut Karahan
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引用次数: 0

摘要

自闭症谱系障碍(ASD)被定义为一种普遍存在的多因素神经发育障碍。自闭症谱系障碍(ASD)被定义为一种普遍的、多因素的神经发育障碍,其特征是重复行为模式以及社会交往和沟通障碍症状。粘连蛋白(CDH)超家族是一大类突触细胞粘附分子,与包括自闭症在内的神经发育障碍广泛相关。本研究旨在利用基于互联网的软件工具,评估CDH8和CDH10基因中可能有害的错义SNPs,这些SNPs与自闭症谱系障碍有关,会导致氨基酸变化。为了预测错义 SNPs 可能的有害影响,我们使用了 SIFT、PolyPhen-2、PROVEAN、SNPs&GO、Meta-SNP 和 SNAP2 软件工具,并确定了所有这些软件工具中可能常见的有害 SNPs。利用 I-Mutant 3.0 和 MUpro 工具研究了它们对蛋白质稳定性的影响。使用 HOPE 软件评估了这些常见有害氨基酸变化的三维模型。通过对 CDH8 基因中的 577 个错义 SNP 进行硅学分析,所有软件工具都检测到了 rs145143780 (Y572C) 多态性常见损伤性 SNP。根据对 CDH10 基因中发现的 526 个错义 SNP 的硅学分析结果,所有软件工具均在所有多态性中发现了 rs13174039 (V459G)、rs147882578 (N485K)、rs201423740 (Y306C)、rs201956238 (F317L) 和 rs373340564 (R128C) 常见损伤性 SNP。通过这项研究,我们认为所获得的数据将为今后的相关实验研究做出重要贡献。
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Evaluation of SNP in the CDH8 and CDH10 Genes Associated with Autism Using In-Silico Tools
Autism spectrum disorder (ASD) is defined as a pervasive and multifactorial neurodevelopmental disorder. It is characterized by repetitive behavioral patterns as well as symptoms of social interaction and communication disorder. The cadherin (CDH) superfamily is a large group of synaptic cell adhesion molecules and has been widely associated with neurodevelopmental disorders, including autism. The aim of this study is to evaluate the potentially harmful missense SNPs in CDH8 and CDH10 genes, which are associated with autism spectrum disorder and cause amino acid changes, using internet-based software tools. To predict the possible harmful effects of Missense SNPs; SIFT, PolyPhen-2, PROVEAN, SNPs&GO, Meta-SNP and SNAP2 software tools were used and possible common harmful ones were determined in all of them. Its effect on protein stabilization was investigated with I-Mutant 3.0 and MUpro tools. Three-dimensional models of these common damaging amino acid changes were evaluated with the HOPE software. As a result of in silico analysis of 577 missense SNPs in the CDH8 gene; The rs145143780 (Y572C) polymorphism common damaging ‎SNP has been detected by all software tools.‎ According to the results of the in silico analysis of 526 missense SNPs found in the CDH10 gene; The rs13174039 (V459G), rs147882578 (N485K), rs201423740 (Y306C), rs201956238 (F317L) and rs373340564 (R128C) common damaging SNPs have been identified in all polymorphisms by all software tools. As a result of this study, it is thought that the data obtained will make important contributions to future relevant experimental studies.
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