1st International and 10th National Iranian Conference on Bioinformatics
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In silico detection of a new deleterious single nucleotide polymorphism and miRNA related to CHEK2 gene in breast cancer and their interactions
Paper ID : 1134-ICB10
Authors:
sajede naghiyan fesharaki *1, Sajjad Sisakhtnezhad2, Mansoureh Azadeh1
1Zist Fanavari Novin biotechnology institute,Isfahan,Iran
2Department of Biology, Faculty of Science, Razi University, Kermanshah, Iran
Abstract:
Introduction: Checkpoint Kinase 2 (CHEK2) is a serine/threonine protein kinase that acts as a tumor suppressor gene through the induction of cell cycle checkpoint, the inhibition of cellular proliferation, and the activation of DNA repair pathways and apoptosis [1]. Although CHEK2 mutations are rare, it reported that the risk of developing breast cancer is higher in carriers of truncating mutations [2]. We also propose that deleterious single nucleotide polymorphism (SNPs) in 3׳-UTR of the CHEK2 gene may affect the interaction of microRNAs (miRNAs) that regulate the expression of this gene in breast cancer. Therefore, this in silico study was conducted to identify the possible deleterious single nucleotide polymorphisms (SNPs) in the 3׳-UTR of the CHEK2 gene and also miRNAs that target it. Moreover, we aimed to investigate the influence of the identified SNPs on binding of the miRNAs in the 3׳-UTR of CHEK2 gene.
Methods: The CHEK2 gene sequence was obtained from NCBI database. The dbSNP tool of NCBI was also used to identify the possible deleterious SNPs in the gene. Next, integrated bioinformatics data analysis by miRWalk, PhenomiR, miRBase, David, and miRNASNP-V3 were performed to identify miRNAs that target CHEK2 gene mRNA and also to evaluate the effect of SNPs on its binding site.
Results: Our results introduced rs540410451 as a deleterious SNP that result to the substitution of G to A allele in CHEK2 gene of breast cancer patients. It also found that hsa-miR-12136 may regulate CHEK2 gene expression. Moreover, in silico data analysis indicated that rs540410451 may affect the performance and binding of hsa-miR-12136 in the 3'-UTR of the CHEK2 mRNA.
Conclusion: This study for the first time, introduces rs540410451 and hsa-miR-12136 as important biomarkers that may be associated with CHEK2 gene and breast cancer. However, experimental studies are needed to confirm the results of this study
Keywords:
Single nucleotide polymorphism, rs540410451, CHEK2 gene, hsa-miR-12136, Breast cancer.
Status : Paper Accepted (Poster Presentation)