ArticleHuman genetics2013
A dominant-negative mutation of HSF2 associated with idiopathic azoospermia.
Article in Human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers, 1 of them a synthesis that pooled it.
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Who cites it
37 citing papers in PubMed, 1 synthesis or guideline pooled it, 61 citations in OpenAlex.
- GSTM1 and GSTT1 null polymorphisms and male infertility risk: an updated meta-analysis encompassing 6934 subjects.Scientific reports · 2013Pooled it
- Apoptosis in non-obstructive azoospermia: pathway crosstalk, cell-type vulnerability, and translational implications.Frontiers in endocrinology · 2026Review
- Genetic and epigenetic insights into non-obstructive azoospermia: mechanisms, biomarkers, and clinical perspectives.Reproductive biology and endocrinology : RB&E · 2025Review
- The Expression and Epigenetic Characteristics of the HSF2 Gene in Cattle-Yak and the Correlation with Its Male Sterility.Animals : an open access journal from MDPI · 2024Article
- Genetic variants underlying spermatogenic arrests in men with non-obstructive azoospermia.Cell cycle (Georgetown, Tex.) · 2023Article
- Novel mutations ofFrontiers in endocrinology · 2023Article
- DDX58 expression promotes inflammation and growth arrest in Sertoli cells by stabilizing p65 mRNA in patients with Sertoli cell-only syndrome.Frontiers in immunology · 2023Article
- SATINN: an automated neural network-based classification of testicular sections allows for high-throughput histopathology of mouse mutants.Bioinformatics (Oxford, England) · 2022Article
- Heat Shock Transcription Factor 2 Is Significantly Involved in Neurodegenerative Diseases, Inflammatory Bowel Disease, Cancer, Male Infertility, and Fetal Alcohol Spectrum Disorder: The Novel Mechanisms of Several Severe Diseases.International journal of molecular sciences · 2022Review
- Transcriptional control of human gametogenesis.Human reproduction update · 2022Article
- Aberrant Gene Expression Profiling in Men With Sertoli Cell-Only Syndrome.Frontiers in immunology · 2022Article
- Update on genetic screening and treatment for infertile men with genetic disorders in the era of assisted reproductive technology.Clinical and experimental reproductive medicine · 2021Article
- Association of ESX1 gene variants with non-obstructive azoospermia in Chinese males.Scientific reports · 2021Article
- The proteostasis guardian HSF1 directs the transcription of its paralog and interactor HSF2 during proteasome dysfunction.Cellular and molecular life sciences : CMLS · 2021Article
- Disease gene discovery in male infertility: past, present and future.Human genetics · 2021Review
- Evaluating genetic causes of azoospermia: What can we learn from a complex cellular structure and single-cell transcriptomics of the human testis?Human genetics · 2021Review
- Male infertility is not liked with HSF1, HSF2 and UBE2I gene polymorphisms among Indian subjects.Bioinformation · 2021Article
- Genetic disorders and male infertility.Reproductive medicine and biology · 2020Review
- Genetic Landscape of Nonobstructive Azoospermia and New Perspectives for the Clinic.Journal of clinical medicine · 2020Review
- Non-syndromic monogenic male infertility.Acta bio-medica : Atenei Parmensis · 2019Review
Corrections and comments
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Authors and funding
15 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Idiopathic azoospermia (IA) is a severe form of male infertility due to unknown causes. The HSF2 gene, encoding the heat shock transcription factor 2, had been suggested to play a significant role in the spermatogenesis process since the Hsf2-knockout male mice showed spermatogenesis defects. To examine whether HSF2 is involved in the pathogenesis of IA in human, we sequenced all the exons of HSF2 in 766 patients diagnosed with IA and 521 proven fertile men. A number of coding mutations private to the patient group, which include three synonymous mutations and five missense mutations, were identified. Of the missense mutations, our functional assay demonstrated that one heterozygous mutation, R502H, caused a complete loss of HSF2 function and that the mutant suppressed the normal function of the wild-type (WT) allele through a dominant-negative effect, thus leading to the dominant penetrance of the mutant allele. These results support a role for HSF2 in the pathogenesis of IA and further implicate this transcription factor as a potential therapeutic target.
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