Link to bioRxiv paper:
http://biorxiv.org/cgi/content/short/2023.06.26.546458v1?rss=1
Authors: Omer, D., Ameer, T., Alsheikh, T., NjmEldin, A., Abdalmonem, Z., Suliman, H., Agbash, A., Hamad, H., Alshareif, B. A., Hassan, M. A.
Abstract:
Background: RUNX1 is one of the most frequently mutated genes in human AMLs, most of RUNX1 mutations in acute myeloid leukemia (AML) are missense or deletion-truncation and behave as loss-of-function mutations. The molecular consequences of cancer associated mutations in Acute myeloid leukemia (AML) linked factors are not very well understood. Here, we recognize possible pathogenic SNPs in the RUNX1 gene as Functional differences caused by SNPs might have harmful effects on protein structure and function using various computational tools. Methodology: Data gained from NCBI database and various tools used to study nsSNPs which they are: SIFT, Polyphen-2, Provean, SNAP2, I-Mutant, Project Hope, Raptor X, PolymiRTS and Gene MANIA. Result: Our study reveals six novel SNPs observed to be the most damaging SNPs that affect structure and function of RUNX1 gene using various bioinformatics tools. Conclusion: This study revealed 7 damaging SNPs, 6 novel nsSNP out of them in the RUNX1 gene that leads to AML, by using different bioinformatics tools. Also, 23 functional classes were predicted in 8 SNPs in the 3-UTR, among them, 6 alleles disrupted a conserved miRNA site and 16 derived alleles created a new site of miRNA. This might result in the de regulation of the gene function. Hopefully, these results will help in genetic studying and diagnosis of AML improvement.
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