Azadeh Rezaeirad, Ö. Karasakal, Tuğba Kaman, Mesut Karahan
{"title":"Evaluation of SNP in the CDH8 and CDH10 Genes Associated with Autism Using In-Silico Tools","authors":"Azadeh Rezaeirad, Ö. Karasakal, Tuğba Kaman, Mesut Karahan","doi":"10.55525/tjst.1344460","DOIUrl":null,"url":null,"abstract":"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.","PeriodicalId":516893,"journal":{"name":"Turkish Journal of Science and Technology","volume":" 10","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2024-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Turkish Journal of Science and Technology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.55525/tjst.1344460","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
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.