Kyrgiafini Maria-Anna, Katsigianni Maria, Giannoulis Themistoklis, Sarafidou Theologia, Chatziparasidou Alexia, Mamuris Zissis
Laboratory of Genetics, Comparative and Evolutionary Biology, Department of Biochemistry and Biotechnology, University of Thessaly, Viopolis, Mezourlo, 41500 Larissa, Greece.
Laboratory of Biology, Genetics and Bioinformatics, Department of Animal Sciences, University of Thessaly, Gaiopolis, 41336 Larissa, Greece.
Noncoding RNA. 2025 Jan 14;11(1):4. doi: 10.3390/ncrna11010004.
: Asthenozoospermia, characterized by reduced sperm motility, is a common cause of male infertility. Emerging evidence suggests that noncoding RNAs, particularly long noncoding RNAs (lncRNAs), play a critical role in the regulation of spermatogenesis and sperm function. Coding regions have a well-characterized role and established predictive value in asthenozoospermia. However, this study was designed to complement previous findings and provide a more holistic understanding of asthenozoospermia, this time focusing on noncoding regions. This study aimed to identify and prioritize variants in differentially expressed (DE) lncRNAs found exclusively in asthenozoospermic men, focusing on their impact on lncRNA structure and lncRNA-miRNA-mRNA interactions. : Whole-genome sequencing (WGS) was performed on samples from asthenozoospermic and normozoospermic men. Additionally, an RNA-seq dataset from normozoospermic and asthenozoospermic individuals was analyzed to identify DE lncRNAs. Bioinformatics analyses were conducted to map unique variants on DE lncRNAs, followed by prioritization based on predicted functional impact. The structural impact of the variants and their effects on lncRNA-miRNA interactions were assessed using computational tools. Gene ontology (GO) and KEGG pathway analyses were employed to investigate the affected biological processes and pathways. : We identified 4173 unique variants mapped to 258 DE lncRNAs. After prioritization, 5 unique variants in 5 lncRNAs were found to affect lncRNA structure, while 20 variants in 17 lncRNAs were predicted to disrupt miRNA-lncRNA interactions. Enriched pathways included Wnt signaling, phosphatase binding, and cell proliferation, all previously implicated in reproductive health. : This study identifies specific variants in DE lncRNAs that may play a role in asthenozoospermia. Given the limited research utilizing WGS to explore the role of noncoding RNAs in male infertility, our findings provide valuable insights and a foundation for future studies.
弱精子症以精子活力降低为特征，是男性不育的常见原因。新出现的证据表明，非编码RNA，尤其是长链非编码RNA（lncRNA），在精子发生和精子功能的调节中起关键作用。编码区域在弱精子症中具有明确的作用和既定的预测价值。然而，本研究旨在补充先前的发现，并提供对弱精子症更全面的理解，这次聚焦于非编码区域。本研究旨在识别并优先考虑仅在弱精子症男性中发现的差异表达（DE）lncRNA中的变异，重点关注它们对lncRNA结构以及lncRNA- miRNA- mRNA相互作用的影响。
对弱精子症和正常精子症男性的样本进行了全基因组测序（WGS）。此外，分析了来自正常精子症和弱精子症个体的RNA测序数据集，以识别DE lncRNA。进行了生物信息学分析，将独特变异映射到DE lncRNA上，然后根据预测的功能影响进行优先级排序。使用计算工具评估变异的结构影响及其对lncRNA- miRNA相互作用的影响。采用基因本体（GO）和KEGG通路分析来研究受影响的生物学过程和通路。
我们识别出映射到258个DE lncRNA上的4173个独特变异。经过优先级排序后，发现5个lncRNA中的5个独特变异会影响lncRNA结构，而17个lncRNA中的20个变异预计会破坏miRNA- lncRNA相互作用。富集的通路包括Wnt信号传导、磷酸酶结合和细胞增殖，所有这些先前都与生殖健康有关。
本研究识别出DE lncRNA中的特定变异，这些变异可能在弱精子症中起作用。鉴于利用WGS探索非编码RNA在男性不育中的作用的研究有限，我们的发现为未来研究提供了有价值的见解和基础。
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