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.
journal_name
Biomed Res Intjournal_title
BioMed research internationalauthors
Ait El Cadi C,Krami AM,Charoute H,Elkarhat Z,Sifeddine N,Lakhiari H,Rouba H,Barakat A,Nahili Hdoi
10.1155/2020/7614634subject
Has Abstractpub_date
2020-07-25 00:00:00pages
7614634eissn
2314-6133issn
2314-6141journal_volume
2020pub_type
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