ArticleMolecular therapy. Nucleic acids2020
Epigenetic Inactivation of SOX30 Is Associated with Male Infertility and Offers a Therapy Target for Non-obstructive Azoospermia.
Article in Molecular therapy. Nucleic acids, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 34 citations in OpenAlex.
- Whole-Genome Sequencing Identifies Potentially Causative Variants inInternational journal of molecular sciences · 2026Article
- Biological and clinical factors predicting sperm retrieval success in men with non-obstructive azoospermia.Reproduction & fertility · 2026Review
- SOX30 Governs Synaptonemal Complex Assembly and Homologous Recombination in Male Meiosis.Cell proliferation · 2026Article
- Comprehensive DNA methylation profiling of sperm in male partners of couples with unexplained recurrent pregnancy loss.Clinical epigenetics · 2025Article
- Targeting TET3 suppresses group 3 medulloblastoma stemness and progression via impairing hypomethylation of Otx2 super-enhancer.Cell reports. Medicine · 2025Article
- SOX18 and SOX30 in NSCLC: The Epigenetic Landscape of Methylation, miRNA Regulation, and Network Crosstalk in Tumor Progression.International journal of molecular sciences · 2025Article
- Article
- Epigenetics of nonobstructive azoospermia.Asian journal of andrology · 2025Review
- Nonobstructive azoospermia: an etiologic review.Asian journal of andrology · 2025Review
- Single-cell RNA-seq and pathological phenotype reveal the functional atlas and precise roles of Sox30 in testicular cell development and differentiation.Cell death & disease · 2025Article
- Review
- Sperm epigenetics and male infertility: unraveling the molecular puzzle.Human genomics · 2024Review
- SOX on tumors, a comfort or a constraint?Cell death discovery · 2024Review
- Molecular mechanisms of cellular dysfunction in testes from men with non-obstructive azoospermia.Nature reviews. Urology · 2024Review
- Article
- Dysregulated expression of IGSF11-AS1 and BVES-AS in azoospermia and its correlation with serum hormone levels.Biomarkers in medicine · 2024Article
- Genetic variants underlying spermatogenic arrests in men with non-obstructive azoospermia.Cell cycle (Georgetown, Tex.) · 2023Article
- Interplay of SOX transcription factors and microRNAs in the brain under physiological and pathological conditions.Neural regeneration research · 2022Review
- Article
- Potential value of differentially expressed circular RNAs derived from circulating exosomes in the pathogenesis of rat spinal cord injury.Frontiers in neuroscience · 2022Article
Corrections and comments
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Authors and funding
16 authors at 7 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Non-obstructive azoospermia (NOA) is the most severe form of male infertility. However, the etiology of NOA is largely unknown, resulting in a lack of clinical treatments. Here, we performed a comparative genome-wide profiling of DNA methylation and identified SOX30 as the most notably hyper-methylated gene at promoter in testicular tissues from NOA patients. This hyper-methylation at promoter of SOX30 directly causes its silencing of expression in NOA. The reduced levels of SOX30 expression are correlated with severity of NOA disease. Deletion of Sox30 in mice uniquely impairs testis development and spermatogenesis with complete absence of spermatozoa in testes leading to male infertility, but does not influence ovary development and female fertility. The pathology and testicular size of Sox30 null mice highly simulate those of NOA patients. Re-expression of Sox30 in Sox30 null mice at adult age reverses the pathological damage of testis and restores the spermatogenesis. The re-presented spermatozoa after re-expression of Sox30 in Sox30 null mice have the ability to start a pregnancy. Moreover, the male offspring of Sox30 re-expression Sox30 null mice still can father children, and these male offspring and their children can live normally more than 1 year without significant difference of physical appearance compared with wild-type mice. In summary, methylated inactivation of SOX30 uniquely impairs spermatogenesis, probably causing NOA disease, and re-expression of SOX30 can successfully restore the spermatogenesis and actual fertility. This study advances our understanding of the pathogenesis of NOA, offering a promising therapy target for NOA disease.
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