Volume 7, Issue 4, December 2019, Page: 124-131
In Silico Analysis of Single Nucleotide Polymorphisms (SNPs) in Human MPL Gene
Mohamed Mubarak Babeker, Department of Molecular Biology and Bioinformatics, University of Bahri, Khartoum, Sudan; Department of Haematology, Omdurman Ahlia University, Khartoum, Sudan
Afra Mohamed Suliman Albakry, Department of Molecular Biology and Bioinformatics, University of Bahri, Khartoum, Sudan
Mohammed Nagm Eldin Elsamani, Department of Clinical Biochemistry, Nile College, Khartoum, Sudan
Gihan Mossalami, Department of Haematology, Omdurman Ahlia University, Khartoum, Sudan
Hind Abdelaziz Elnasri, Department of Molecular Biology and Bioinformatics, University of Bahri, Khartoum, Sudan
Mona Abdelrahman Mohamed Khaier, Department of Molecular Biology and Bioinformatics, University of Bahri, Khartoum, Sudan
Received: Sep. 30, 2019;       Accepted: Oct. 23, 2019;       Published: Nov. 22, 2019
DOI: 10.11648/j.ijgg.20190704.17      View  18      Downloads  8
Abstract
Thrombopoietin was shown to be the major regulator of megakaryocytopoiesis and platelet formation. The protein encoded by the c-mpl gene, CD110, is a 635 amino acid transmembrane domain, with two extracellular cytokine receptor domains and two intracellular cytokine receptor box motifs. Mutations to this gene are associated with myelofibrosis and essential Thrombocythemia. In essential Thrombocythemia, these mutations lead to the production of Thrombopoietin receptors that are constitutively activated, or constantly turned on, which results in the overproduction of abnormal megakaryocytes. MPL gene was investigated in NCBI database (http://www.ncbi.nlm.nih.gov/) and computational software’s analyzed SNPs. SNPs in the coding region (exonal SNPs) that are non-synonymous (nsSNP) were analyzed by (sift, polyphen, Imutant and PHD-snp) softwares, and then SNPs at un-traslated region at 5’ ends (5UTR) were analyzed too by SNPs Function prediction software. In this study, Bioinformatics’ analysis of MPL gene initiated by SIFTand Polyphen-2server issued to review 197 SNPs and among this SNPs 23 pathological polymorphisms. Among these 23, 20 pathological polymorphisms were found to be very damaging, with higher Polyphen-2score, of the Polyphen-2 server (=1) and SIFT tolerance index of 0.000-0.005. Protein structural analysis was done by modeling of amino acid substitutions using Project Hope. AlsoI-Mutant software used to check their stability and the effect of the native and mutant residues protein and structure for all these pathological polymorphisms. We hope our results will provide useful information that is needed to help researchers to do further studies.
Keywords
In silico Analysis, MPL gene, SNPs, SIFT, PolyPhen-2, I-Mutant 3.0 and Project Hope
To cite this article
Mohamed Mubarak Babeker, Afra Mohamed Suliman Albakry, Mohammed Nagm Eldin Elsamani, Gihan Mossalami, Hind Abdelaziz Elnasri, Mona Abdelrahman Mohamed Khaier, In Silico Analysis of Single Nucleotide Polymorphisms (SNPs) in Human MPL Gene, International Journal of Genetics and Genomics. Vol. 7, No. 4, 2019, pp. 124-131. doi: 10.11648/j.ijgg.20190704.17
Copyright
Copyright © 2019 Authors retain the copyright of this article.
This article is an open access article distributed under the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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