CIVILICA We Respect the Science
Publisher of Iranian Journals and Conference Proceedings
Paper
title

Evaluation of Pathogenicity Effects of Missense Nucleotide Polymorphisms (SNPs) in NKX2.1 Gene

Credit to Download: 0 | Page Numbers 1 | Abstract Views: 61
Year: 2018
COI code: CIGS15_077
Paper Language: English

How to Download This Paper

For Downloading the Fulltext of CIVILICA papers please visit the orginal Persian Section of website.

Authors Evaluation of Pathogenicity Effects of Missense Nucleotide Polymorphisms (SNPs) in NKX2.1 Gene

  Seyed 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

Perma Link

https://www.civilica.com/Paper-CIGS15-CIGS15_077.html
COI code: CIGS15_077

how to cite to this paper:

If you want to refer to this article in your research, you can easily use the following in the resources and references section:
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)
Second and more: (Madani Manshadi; Heidari, & Khatami, 2018)
For a complete overview of how to citation please review the following CIVILICA Guide (Citation)

Scientometrics

The University/Research Center Information:
Type: state university
Paper No.: 11274
in University Ranking and Scientometrics the Iranian universities and research centers are evaluated based on scientific papers.

Research Info Management

Export Citation info of this paper to research management softwares

New Related Papers

Iran Scientific Advertisment Netword

Share this paper

WHAT IS COI?

COI is a national code dedicated to all Iranian Conference and Journal Papers. the COI of each paper can be verified online.