مقالات پذیرفته شده در هشتمین کنگره بین المللی زیست پزشکی
Impact of a Missense Mutation in the Nanos2 Gene on Spermatogenesis: An In-Silico Analysis and Implications for Male Infertility
Impact of a Missense Mutation in the Nanos2 Gene on Spermatogenesis: An In-Silico Analysis and Implications for Male Infertility
reihane,1Mehri Khatami,2,*
1. Department of Biology, Yazd University, Yazd, Iran 2. Department of Biology, Yazd University, Yazd, Iran
Introduction: Male infertility is a complex condition influenced by various genetic factors, with the nanos2 gene emerging as a critical player in spermatogenesis and reproductive health. This study presents an in-silico analysis of a specific missense mutation within the nanos2 gene, aimed at elucidating its potential impact on protein function and its association with male infertility.
Methods: Utilizing an array of bioinformatics tools, including SIFT, PolyPhen-2, iMutant, HOPE, and MUPro, a comprehensive assessment of the mutation's pathogenicity is conducted, structural implications, and functional consequences.
Results: The SIFT and PolyPhen-2 analyses indicated a high likelihood of deleterious effects, suggesting that this mutation may disrupt the nanos2 protein's stability and functionality. Structural predictions using HOPE and MUPro further supported these findings, revealing significant alterations in protein dynamics and interactions that could impair cellular processes critical for spermatogenesis.
Conclusion: These results underscore the necessity for further functional studies to validate these predictions and explore the underlying mechanisms by which nanos2 mutations contribute to male infertility. This research highlights the utility of advanced bioinformatics tools in the identification and characterization of genetic variations linked to reproductive health, paving the way for novel diagnostic and therapeutic strategies in the field of male infertility.