Mutations or altered expression of PRM1 gene have been associated with male infertility. This study aimed to analyse pathogenic variations of PRM1 gene in Iranian Arab infertile men with oligoasthenoteratozoospermia that was carried out for the first time in this population. Genomic DNA was used to perform PCR sequencing in PRM1 untranslated regions, exons and intron. Also, bioinformatics analysis was recruited to discover the possible effect of detected variations. Two pathogenic variations were seen in two men with oligoasthenoteratozoospermia, which were not found in the control group. The cDNA.384G>C variation is novel and was located in the 3' untranslated region, and cDNA.42G>A variation is reported for the first time related to male infertility and was found in 5' untranslated regions. Bioinformatics analysis showed that the minimum free energy was increased from -19.9kcal/mol to -13.1kcal/mol due to the cDNA.384G>C variation at hsa-miR-4326's seed site. More analysis revealed cDNA.42G>A located in transcription factors binding site, E1 and MYOD, which was detected as a promoter-associated region, and generally have regulatory features for acetylation and methylation. In conclusion, two pathogenic variations were recognised in regulatory areas of PRM1 gene, which might interfere with some critical factors related to PRM1 gene expression, hence cause male infertility.
Keywords: PRM1 gene; genetic mutation; male infertility; oligoasthenoteratozoospermia.
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