Single Nucleotide Polymorphism: From Conformational Variations to Structural Alternations

سال انتشار: 1393
نوع سند: مقاله کنفرانسی
زبان: انگلیسی
مشاهده: 737

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شناسه ملی سند علمی:

CIGS13_0111

تاریخ نمایه سازی: 7 بهمن 1393

چکیده مقاله:

Asthma is the main reason of disability, health resource exploitation and low quality of life for those who are affected. It is estimated that nearly 300 million people in the world have asthma .Studies have identified 18 genomic regions and more than 100 genes associated with asthma. Among these candidate genes, IL-17F plays a very important role in asthma. To date, fifty asthma– associated IL-17F polymorphisms have been reported. In our study, 10 significant nonsynonymous SNPs (rs763780, rs144576902, rs11465553, rs368500268, rs141798304, rs2397084, rs146083682, rs200163061, rs376671742, and rs373228601) were taken for the polymorphism-induced protein conformational changes analysis. Ten IL-17F -associated missense mutations were taken from Ensembl Genome Browser database. Polymorphism-induced protein structural changes were predicted using Protein Homology analogY Recognition Engine2 (PHYRE2) program. The possible impact of an amino acid substitution on the function of protein was analyzed using PolyPhen-2 (Polymorphism Phenotyping Version2) tool .The analysis revealed mutant proteins having structural changes in number of atoms, H-bonds, turns andhelices. While wild copy has 82 H-bonds, 5 helices and 20 turns, the mutant types show lots of variation. At functional level also, substantial changes was observed between wild protein and the mutant one. A single nucleotide polymorphism in the gene sequence can lead to the substantial structural and functional variations in the protein product of the gene. Taking further studies on asthma with bioinformatics tools holds promise for a better understanding of the pathology, diagnosis, prevention, treatment and management of asthma.

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نویسندگان

Sareh Raeiszadeh Jahromi

Genetics and Genomics laboratory, Department of Studies in Zoology, University of Mysore, Mysore, India

P. A Mahesh

Department of Pulmonary Medicine, J.S.S Medical College, Mysore, India,

Mehdi Bijanzadeh

Department of Medical Genetics, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz

N. B. Ramachandra

Genetics and Genomics laboratory, Department of Studies in Zoology, University of Mysore, Mysore, India