Cargando…

Effect of Structural Changes in Proteins Derived from GATA4 Nonsynonymous Single Nucleotide Polymorphisms in Congenital Heart Disease

Congenital heart disease is the most common type of birth defect. The single nucleotide polymorphism in GATA4 is associated with various congenital heart disease phenotypes. In the present study, we analysed the nonsynonymous single nucleotide polymorphism of GATA4, which are involved in congenital...

Descripción completa

Detalles Bibliográficos
Autores principales: Manjegowda, D. S., Karunakar, P., Ramachandra, N. B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4778234/
https://www.ncbi.nlm.nih.gov/pubmed/26997702
_version_ 1782419428981342208
author Manjegowda, D. S.
Karunakar, P.
Ramachandra, N. B.
author_facet Manjegowda, D. S.
Karunakar, P.
Ramachandra, N. B.
author_sort Manjegowda, D. S.
collection PubMed
description Congenital heart disease is the most common type of birth defect. The single nucleotide polymorphism in GATA4 is associated with various congenital heart disease phenotypes. In the present study, we analysed the nonsynonymous single nucleotide polymorphism of GATA4, which are involved in congenital heart disease by predicting the changes in protein structures. Total of 49 nonsynonymous single nucleotide polymorphisms of GATA4 was screened from congenital heart disease patients of Mysore and also globally reported nonsynonymous single nucleotide polymorphisms. To understand the role of nonsynonymous single nucleotide polymorphisms, we mutated the sequence and translated into amino acids. Further the mutated protein secondary structure is predicted and tertiary structure is predicted using homology modeling. The quantitative evaluation of protein structure quality was verified with Volume Area Dihedral Angle Reporter server. Results revealed the secondary, tertiary structural changes along with changes in free energy of folding, volume and accessible surface area. Thus, the structural changes in the mutated proteins impaired the normal function of GATA4.
format Online
Article
Text
id pubmed-4778234
institution National Center for Biotechnology Information
language English
publishDate 2015
publisher Medknow Publications & Media Pvt Ltd
record_format MEDLINE/PubMed
spelling pubmed-47782342016-03-18 Effect of Structural Changes in Proteins Derived from GATA4 Nonsynonymous Single Nucleotide Polymorphisms in Congenital Heart Disease Manjegowda, D. S. Karunakar, P. Ramachandra, N. B. Indian J Pharm Sci Research Paper Congenital heart disease is the most common type of birth defect. The single nucleotide polymorphism in GATA4 is associated with various congenital heart disease phenotypes. In the present study, we analysed the nonsynonymous single nucleotide polymorphism of GATA4, which are involved in congenital heart disease by predicting the changes in protein structures. Total of 49 nonsynonymous single nucleotide polymorphisms of GATA4 was screened from congenital heart disease patients of Mysore and also globally reported nonsynonymous single nucleotide polymorphisms. To understand the role of nonsynonymous single nucleotide polymorphisms, we mutated the sequence and translated into amino acids. Further the mutated protein secondary structure is predicted and tertiary structure is predicted using homology modeling. The quantitative evaluation of protein structure quality was verified with Volume Area Dihedral Angle Reporter server. Results revealed the secondary, tertiary structural changes along with changes in free energy of folding, volume and accessible surface area. Thus, the structural changes in the mutated proteins impaired the normal function of GATA4. Medknow Publications & Media Pvt Ltd 2015 /pmc/articles/PMC4778234/ /pubmed/26997702 Text en Copyright: © Indian Journal of Pharmaceutical Sciences http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 3.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms.
spellingShingle Research Paper
Manjegowda, D. S.
Karunakar, P.
Ramachandra, N. B.
Effect of Structural Changes in Proteins Derived from GATA4 Nonsynonymous Single Nucleotide Polymorphisms in Congenital Heart Disease
title Effect of Structural Changes in Proteins Derived from GATA4 Nonsynonymous Single Nucleotide Polymorphisms in Congenital Heart Disease
title_full Effect of Structural Changes in Proteins Derived from GATA4 Nonsynonymous Single Nucleotide Polymorphisms in Congenital Heart Disease
title_fullStr Effect of Structural Changes in Proteins Derived from GATA4 Nonsynonymous Single Nucleotide Polymorphisms in Congenital Heart Disease
title_full_unstemmed Effect of Structural Changes in Proteins Derived from GATA4 Nonsynonymous Single Nucleotide Polymorphisms in Congenital Heart Disease
title_short Effect of Structural Changes in Proteins Derived from GATA4 Nonsynonymous Single Nucleotide Polymorphisms in Congenital Heart Disease
title_sort effect of structural changes in proteins derived from gata4 nonsynonymous single nucleotide polymorphisms in congenital heart disease
topic Research Paper
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4778234/
https://www.ncbi.nlm.nih.gov/pubmed/26997702
work_keys_str_mv AT manjegowdads effectofstructuralchangesinproteinsderivedfromgata4nonsynonymoussinglenucleotidepolymorphismsincongenitalheartdisease
AT karunakarp effectofstructuralchangesinproteinsderivedfromgata4nonsynonymoussinglenucleotidepolymorphismsincongenitalheartdisease
AT ramachandranb effectofstructuralchangesinproteinsderivedfromgata4nonsynonymoussinglenucleotidepolymorphismsincongenitalheartdisease