NDLI: Prediction of the Impact of Deleterious Nonsynonymous Single Nucleotide Polymorphisms on the Human <i>RRM2B</i> Gene: A Molecular Modeling Study.

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Prediction of the Impact of Deleterious Nonsynonymous Single Nucleotide Polymorphisms on the Human RRM2B Gene: A Molecular Modeling Study.

Content Provider	Europe PMC
Author	Ait El Cadi, Chaimaa Krami, Al Mehdi Charoute, Hicham Elkarhat, Zouhair Sifeddine, Najat Lakhiari, Hamid Rouba, Hassan Barakat, Abdelhamid Nahili, Halima
Copyright Year	2020
Abstract	RRM2B gene encodes ribonucleoside-diphosphate reductase subunit M2 B, the p53-inducible small subunit (p53R2) of ribonucleotide reductase (RNR), an enzyme catalyzing dNTP synthesis for mitochondrial DNA. Defects in this gene may cause severe mitochondrial disease affecting mainly the nervous system. This study is aimed at examining the effect of deleterious nonsynonymous SNP (nsSNP) on the structure of the RRM2B protein, using a variety of prediction tools followed by a molecular modeling analysis. After using 13 algorithms, 19 nsSNPs were predicted deleterious. Among these variants, 18 decreased the protein stability and 16 were localized in very highly conserved regions. Protein 3D structure analysis showed that 18 variants changed amino acid interactions. These results concur with what has been found in experimental trials; 7 deleterious nsSNPs were previously reported in patients suffering from genetic disorders affecting the nervous system. Thus, our study will provide useful information to design more efficient and fast genetic tests to find RRM2B gene mutations.
ISSN	23146133
Journal	Biomed Research International
Volume Number	2020
PubMed Central reference number	PMC7399733
PubMed reference number	32775440
e-ISSN	23146141
DOI	10.1155/2020/7614634
Language	English
Publisher	Hindawi
Publisher Date	2020-07-25
Access Restriction	Open
Rights License	This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Copyright © 2020 Chaimaa Ait El Cadi et al.
Content Type	Text
Resource Type	Article
Subject	Immunology and Microbiology Medicine Biochemistry, Genetics and Molecular Biology

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