Mutation detection in Exon 13 and 23 and a certain part of intron 12 of jhdm2a gene in human and its association with male's infertility

JmjC-domain-containing histone demethylase 2A (JHDM2A) is essential for spermatogenesis and is a key epigenetic regulator expressed in the testis. It specifically demethylates mono- and di-methylated histone H3 lysine 9. JHDM2A directly or indirectly bound to the core promoter regions of transition nuclear protein and protamine genes، the products of which are required for packaging and condensation of sperm chromatin. In this work، 150 infertile men were studied. these men have been proved to be either oligospermia or azoospermia. 91% similarity was observed between jhdm2a gene in human and mouse as shown by bioinformatic analysis using clustal software. exon 13 nad 23 were selected and amplified for mutation screening. The PCR products were used in polyacrylamid gel electrophoresis for further SSCP analysis. Screening of exon 23 did not reveal any variation in subjects screened. Different SSCP patterns were observed among two infertile men، in comparison with others (controls and infertile men). A single nucleotide substitution C33838→A in exon 13 that causes prolin→glutamin exchange revealed by sequencing analysis in these three infertile patients. So by further mutation screening on this gene، it may be considered as a new gene marker for men''s infertility.