• PMID: 26223869
• Gene Name: UBE2B
• Condition: idiopathic azoospermia
• Association: A 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.
• Mutation: (Chr5.133706925 A?>?G)
• Population size: 1485
• Population details: 1485 (776 patients diagnosed with idiopathic azoospermia (IA), 709 proven fertile men)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: idiopathic azoospermia

A functional variant in the UBE2B gene promoter is associated with idiopathic azoospermia

Mou L, Zhang Q, Diao R, Cai Z, Gui Y.

BACKGROUND: A 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. METHODS: In 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. RESULTS: In 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. CONCLUSIONS: A 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. FAU - Mou, Lisha AU - Mou L AD - Shenzhen Domesticated Organ Medical Engineering Research and Development Center, First Affiliated Hospital of Shenzhen University, Shenzhen, China. molly__molly@163.com. AD - Guangdong and Shenzhen Key Laboratory of Male Reproductive Medicine and Genetics, Institute of Urology, Peking University Shenzhen Hospital, Biomedical Research Institute, Shenzhen PKU-HKUST Medical Center, Shenzhen, China. molly__molly@163.com. FAU - Zhang, Qiang AU - Zhang Q AD - Shenzhen Domesticated Organ Medical Engineering Research and Development Center, First Affiliated Hospital of Shenzhen University, Shenzhen, China. zhangqiang2131617@163.com. AD - The people's hospital of Ankang, Shanxin, China. zhangqiang2131617@163.com. FAU - Diao, Ruiying AU - Diao R AD - Shenzhen Domesticated Organ Medical Engineering Research and Development Center, First Affiliated Hospital of Shenzhen University, Shenzhen, China. diaodiao005@163.com. FAU - Cai, Zhiming AU - Cai Z AD - Shenzhen Domesticated Organ Medical Engineering Research and Development Center, First Affiliated Hospital of Shenzhen University, Shenzhen, China. caizhiming2000@163.com.