همایش ملی بیوانفورماتیک ایران

صفحه اصلی / 4th international edition and 13th Iranian Conference on Bioinformatics

Exploring the Genes Located on Chromosome Y in Non-obstructive Azoospermia: A Bioinformatic Approach

نویسندگان :

Seyedeh Zahra Mousavi¹ Bahram Mohammad Soltani² Morteza Hadizadeh³ Mehdi Totonchi⁴

1- دانشگاه تربیت مدرس 2- دانشگاه تربیت مدرس 3- دانشگاه تحصیلات تکمیلی صنعتی و فناوری پیشرفته کرمان 4- پژوهشگاه رویان

کلمات کلیدی :

Male infertility،Non-obstructive azoospermia،Chromosome Y،Microarray،Gene expression

چکیده :

Abstract Introduction: Infertility affects an estimated 8–12% of couples worldwide, with male factors being a primary or contributing cause in approximately 50% of these cases. Non-obstructive azoospermia (NOA) is characterized by the absence of spermatozoa in the ejaculate and represents the most severe form of male factor infertility, accounting for 10%–15% of cases. Methods: Differentially expressed genes (DEGs) were analyzed using data from the GSE190752 dataset available in the Gene Expression Omnibus (GEO). The DEGs were compared to a list of human chromosome Y genes obtained from literature reviews to identify overlaps (Y-DEGs). The protein-protein interaction (PPI) network, and hub gene identifications were analyzed using the STRING database and cytoHubba plugin of Cytoscape software for Y-DEGs. The top 5 hub genes were then subjected to the ToppGene database to investigate biological processes and human-related phenotypes. Results: The analysis identified 1,327 DEGs, including 928 downregulated and 445 upregulated genes. By comparing the DEGs with human chromosome Y genes, 22 genes were identified as the final list. The top five2 hub genes identified from the PPI network were ZFY, CDY2A, DDX3Y, USP9Y, and BPY2. According to the ToppGene database, the human phenotypes associated with the top five genes were “Y-linked inheritance”, “Male infertility”, “Decreased fertility in males”, “Gonosomal inheritance”, and “Infertility”. The biological processes of the mentioned top five gene include “gamete generation”, “multicellular organismal reproductive process”, “sexual reproduction”, “reproductive process”, and “spermatogenesis”. Conclusion: The results of this study demonstrate that genes on chromosome Y are critical for normal spermatogenesis and play a significant role in male infertility.