In Silico Analysis of Single Nucleotide Polymorphism (SNPs) in Human RAG 1&RAG2 Genes of Severe Combined Immunodeficiency from Functional Analysis to Polymorphisms in microRNA

Mona ShamsAldeen S.Ali^{1, 2,} , Tomador Siddig M.Z^{1, 2}, Rehab A. Elhadi^{1, 2}, Muhammad R.Yousof², Siddig Eltyeb Yousif Abdallah¹, Maiada Mohamed Yousif Ahmed², Nosiba Yahia Mohamed Hassen¹, Sulum Omer Masoud Mohamed¹, Marwa Mohamed Osman¹ and Mohamed A. Hassan²

¹Omdurman Teaching Hospital, Sudan

²Department of Applied Bioinformatics, Africa City of Technology

Cite this paper:
Mona ShamsAldeen S.Ali, Tomador Siddig M.Z, Rehab A. Elhadi, Muhammad R.Yousof, Siddig Eltyeb Yousif Abdallah, Maiada Mohamed Yousif Ahmed, Nosiba Yahia Mohamed Hassen, Sulum Omer Masoud Mohamed, Marwa Mohamed Osman and Mohamed A. Hassan. In Silico Analysis of Single Nucleotide Polymorphism (SNPs) in Human RAG 1&RAG2 Genes of Severe Combined Immunodeficiency from Functional Analysis to Polymorphisms in microRNA. Biomedicine and Biotechnology. 2016; 4(1):5-11. doi: 10.12691/bb-4-1-2

Abstract

Severe combined immunodeficiency (SCID) is an inherited Primary immunodeficiency PID, which is characterized by the absence or dysfunction of T lymphocytes. Defects in RAG1 and RAG2 are known to cause a T^-B^-NK⁺ form of SCID. Recombinase activating genes RAG1 and RAG2 (OMIM 179615,179616 respectively) are expressed exclusively in lymphocytes and mediate the creation of double-strand. DNA breaks at the sites of recombination and in signal sequences during T− and B− cell receptor gene rearrangement. This study was focused on the effect of nonsynonymous single nucleotide polymorphisms in the function and structure of RAG1& RAG2 genes using in silico analysis. Only nsSNPs and 3'UTR SNPs were selected for computational analysis. Predictions of deleterious nsSNPs were performed by bioinformatics software. Five damaging nsSNPs (rs112047157, rs61758790, rs4151032, rs61752933, rs75591129) were predicted in RAG1 and two damaging nsSNPs (rs112927992, rs17852002) in RAG2, all of this nsSNPs found on domain that important in binding and mutation effect in its protein function. We hope to provide more information that needed to help researchers to do further study in SCID especially in our country where consanguineous marriage is common.

Keywords:
severe combined immunodeficiency (SCID) primary immunodeficiency (PID) T lymphocytes RAG1&2 nonsynonymous Single Nucleotide Polymorphisms (nsSNP)

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