Study Importance of Mutation in RAD50 Gene Based on in Silico Analysis of in Vivo Mutation

2024 · doi:10.32388/2an7h0
Lab / animal preprint OA: closed
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This study employed in silico methods to analyze the functional impact of mutations within the RAD50 gene, which plays a critical role in DNA double-strand break repair. The researchers utilized bioinformatics tools to predict how specific genetic variants might alter protein structure and function based on evolutionary conservation and structural modeling. Key findings indicated that several identified mutations were likely deleterious, potentially compromising the gene's ability to maintain genomic stability. The paper explicitly states that its scope is limited to computational predictions without experimental validation in biological systems. This paper does not explicitly discuss endometriosis or adenomyosis; it was included in the corpus via a keyword match in the upstream search index.

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Abstract

DNA repair processes occur in all species and the proteins involved are highly conserved. The MRN complex is one of the major sensors of braked DNA and RAD50 as part of the MRN complex supports allosteric connexions over long distances between the zinc hook and the coiled-coil domain. In this study Zebrafish were used as a model to study RAD50 mutation _in vivo_. Knock-out (KO) RAD50 embryos using CRISPR-Cas9 shows embryonic lethality. The final DNA Sanger sequence in each edited sample shows a nucleotide deletion (G) and a nucleotide insertion (A) in the target site, whereupon the aspartic acid residue (D) in the wild type was changed to an asparagine residue (N) in the edited sequences. By _in silico_ analyses of the protein sequence, we found that the nucleotide change could cause a change in the amino acid and protein structure of RAD50 in Zebrafish.
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