COI code: CIGS15_077
Paper Language: English
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Authors Evaluation of Pathogenicity Effects of Missense Nucleotide Polymorphisms (SNPs) in NKX2.1 GeneSeyed Ali Madani Manshadi - Department of Biology, Faculty of science, Yazd University, Yazd, Iran.
Mohammad Mehdi Heidari, - Department of Biology, Faculty of science, Yazd University, Yazd, Iran.
Mehri Khatami - Department of Biology, Faculty of science, Yazd University, Yazd, Iran.
Abstract:Introduction: Congenital hypothyroidism (CH) is a most common congenital endocrine disorder, affecting 1 in 3000 to 4000 newborns. Nkx2.1 (thyroid transcription factor-1; also known as TTF-1) is an essential homeodomain-containing transcription factor for the morphogenesis and differentiation of the various tissues such as thyroid, lung and ventral forebrain. The purpose of this study is to examine the pathogenic effects of single nucleotide polymorphisms in the NKX2.1 gene based on bioinformatics analyzes to determine the rule of these mutations in the structure and function of mutated protein. Method: We identified three non-synonymous single nucleotide polymorphisms (nsSNPs) in the NKX2.1 gene: (rs137852693 , rs28936671 and rs28936672) using dbSNP and then analyzed their effect on the protein structure using PyMOL software and SIFT and PolyPhen-2 database.Results: Our data showed that non-synonymous single nucleotide polymorphisms change the interaction patterns, polar groups, and length of hydrogen bonds. rs28936671(Arg213Ser), and rs28936672 (Trp208Leu) SNPs caused to reducing the number of hydrogen bonds in the protein structure. In rs28936671(Arg213Ser) the positive-polar amino acid has becom non-polar amino acid. rs28936672 (Trp208Leu) converts the aromatic amino acid to aliphatic amino acid. rs137852693 (Glu205Gln) changes the polar positively charged into a polar uncharged and change in the length of hydrogen bond. The results of SIFT predict scores equal 0 and in polyphen-2 score are more than 0.98 for all three mentioned SNPs.Conclusions: According to bioinformatics assays all three of these SNPs can be harmful, deleterious and alter the structure of the protein. Computational biology tools have advantages and disadvantages, and their results are predictions that require confirmation.
Keywords:NKX2.1, non-synonymous single nucleotid polymorphisms, structure prediction, PyMOL, SIFT
COI code: CIGS15_077
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Madani Manshadi, Seyed Ali; Mohammad Mehdi Heidari, & Mehri Khatami, 2018, Evaluation of Pathogenicity Effects of Missense Nucleotide Polymorphisms (SNPs) in NKX2.1 Gene, The Third International and 15th National Genetics Congress, تهران, انجمن علمي ژنتيك ايران, https://www.civilica.com/Paper-CIGS15-CIGS15_077.htmlInside the text, wherever referred to or an achievement of this article is mentioned, after mentioning the article, inside the parental, the following specifications are written.
First Time: (Madani Manshadi, Seyed Ali; Mohammad Mehdi Heidari, & Mehri Khatami, 2018)
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Type: state university
Paper No.: 11274
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