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Abstract
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Non-obstructive azoospermia (NOA) is a serious cause of male infertility. The Sertoli cell
responds to androgens and takes on roles supporting spermatogenesis, which may cause infertility.
This work aims to enhance the genetic diagnosis of NOA via the discovery of new and hub genes
implicated in human NOA and to better assess the odds of successful sperm extraction according to
the individual’s genotype. Whole exome sequencing (WES) was done on three NOA patients to find
key genes involved in NOA. We evaluated genome-wide transcripts (about 50,000 transcripts) by
microarray between the Sertoli of non-obstructive azoospermia and normal cells. The microarray
analysis of three human cases with different non-obstructive azoospermia revealed that 32 genes
were upregulated, and the expressions of 113 genes were downregulated versus the normal case.
For this purpose, Enrich Shiny GO, STRING, and Cytoscape online evaluations were applied to
predict the functional and molecular interactions of proteins and then recognize the master pathways.
The functional enrichment analysis demonstrated that the biological process (BP) terms “inositol
lipid-mediated signaling”, “positive regulation of transcription by RNA polymerase II”, and “positive
regulation of DNA-templated transcription” significantly changed in upregulated differentially
expressed genes (DEGs). The BP investigation of downregulated DEGs highlighted “mitotic cytokinesis”,
“regulation of protein-containing complex assembly”, “cytoskeleton-dependent cytokinesis”,
and the “peptide metabolic process”. Overrepresented molecular function (MF) terms in upregulated
DEGs included “ubiquitin-specific protease binding”, “protease binding”, “phosphatidylinositol
trisphosphate phosphatase activity”, and “clathrin light chain binding”. Interestingly, the MF analysis
of the downregulated DEGs revealed overexpression in “ATPase inhibitor activity”, “glutathione
transferase activity”, and “ATPase regulator activity”. Our findings sug
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