ArticleReproductive biology and endocrinology : RB&E2015
A functional variant in the UBE2B gene promoter is associated with idiopathic azoospermia.
Article in Reproductive biology and endocrinology : RB&E, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 12 citations in OpenAlex.
- Functional Investigation of a Novel PIWIL4 Mutation in Nonobstructive Azoospermia During the First Wave of Spermatogenesis.Biomolecules · 2025Article
- The role of ubiquitin-conjugating enzyme in the process of spermatogenesis.Reproductive biology and endocrinology : RB&E · 2024Review
- Article
- Analysis of TATA-box binding protein associated factor 4b gene mutations in a Chinese population with nonobstructive azoospermia.Medicine · 2020Observational
- New Insights into the Role of E2s in the Pathogenesis of Diseases: Lessons Learned from UBE2O.Molecules and cells · 2018Review
- A Novel Missense Mutation in USP26 Gene Is Associated With Nonobstructive Azoospermia.Reproductive sciences (Thousand Oaks, Calif.) · 2016Article
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Authors and funding
5 authors at 3 institutions in 1 country.
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Abstract
backgroundA variety of genetic variants lead to abnormal human spermatogenesis. The ubiquitin-conjugating enzyme E2B (UBE2B) plays a significant role in spermatogenesis as Ube2b-knockout male mice are infertile.
methodsIn this study, we sequenced the exon and promoter region of UBE2B in 776 patients diagnosed with idiopathic azoospermia (IA) and 709 proven fertile men to examine whether UBE2B is involved in the pathogenesis of IA.
resultsIn the exon region, two novel synonymous variants were detected in the patient group. In the promoter region, four known variants and four novel variants were identified in the patient group. Of the novel variants in the promoter region, three were located at the binding site of specificity protein 1 (SP1) transcription factor analyzed by TRANSFAC software. Luciferase assays demonstrated that one heterozygous variant (Chr5.133706925 A > G) inhibited the transcriptional regulation activity of SP1.
conclusionsA novel variant (Chr5.133706925 A > G) residing in the UBE2B gene promoter region confers a high risk for IA in a Chinese population. These results support a role for UBE2B in the pathogenesis of IA.
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