• PMID: 27089915
• Gene Name: USP26
• Condition: Nonobstructive azoospermia (NOA)
• Association: Associated
• Mutation: R344W
• Population size: 1485
• Population details: 1485 (776 patients with NOA, 709 fertile men)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Nonobstructive azoospermia (NOA)

A Novel Missense Mutation in USP26 Gene Is Associated With Nonobstructive Azoospermia

Ma Q, Li Y, Guo H, Li C, Chen J, Luo M, Jiang Z, Li H, Gui Y.

OBJECTIVE: The aim of this study was to evaluate whether ubiquitin-specific peptidase 26 (USP26) gene variations were associated with nonobstructive azoospermia (NOA). METHODS: Seven hundred and seventy-six patients diagnosed with NOA and 709 proven fertile men were included in this study. Genetic variations of infertility-related genes, including USP26, were identified by selected exonic sequencing. The effects of USP26 mutations on androgen receptor (AR) binding, ubiquitination, and transcriptional activity were detected by immunoprecipitation and luciferase assay in Hela and TM4 cells. RESULTS: Six novel missense mutations and 1 novel synonymous mutation of USP26 unique to the patients with NOA were identified. Of these missense mutations, USP26 R344W remarkably reduced the binding affinity and deubiquitinating activity of USP26 to AR, thus eliminated the inhibitory effect of USP26 on transcriptional activity of AR in Hela and TM4 cells. CONCLUSION: A novel USP26 variant p.R344W is associated with NOA probably through affecting AR function. CI - © The Author(s) 2016. FAU - Ma, Qian AU - Ma Q AD - Guangdong and Shenzhen Key Laboratory of Male Reproductive Medicine and Genetics, Institute of Urology, Peking University Shenzhen Hospital, Shenzhen PKU-HKUST Medical Center, Shenzhen, PR China. FAU - Li, Yuchi AU - Li Y AD - Guangdong and Shenzhen Key Laboratory of Male Reproductive Medicine and Genetics, Institute of Urology, Peking University Shenzhen Hospital, Shenzhen PKU-HKUST Medical Center, Shenzhen, PR China. FAU - Guo, Huan AU - Guo H AD - Guangdong and Shenzhen Key Laboratory of Male Reproductive Medicine and Genetics, Institute of Urology, Peking University Shenzhen Hospital, Shenzhen PKU-HKUST Medical Center, Shenzhen, PR China. FAU - Li, Cailing AU - Li C AD - Guangdong and Shenzhen Key Laboratory of Male Reproductive Medicine and Genetics, Institute of Urology, Peking University Shenzhen Hospital, Shenzhen PKU-HKUST Medical Center, Shenzhen, PR China. FAU - Chen, Jianbo AU - Chen J AD - Guangdong and Shenzhen Key Laboratory of Male Reproductive Medicine and Genetics, Institute of Urology, Peking University Shenzhen Hospital, Shenzhen PKU-HKUST Medical Center, Shenzhen, PR China. FAU - Luo, Manling AU - Luo M AD - Guangdong and Shenzhen Key Laboratory of Male Reproductive Medicine and Genetics, Institute of Urology, Peking University Shenzhen Hospital, Shenzhen PKU-HKUST Medical Center, Shenzhen, PR China. FAU - Jiang, Zhimao AU - Jiang Z AD - Guangdong and Shenzhen Key Laboratory of Male Reproductive Medicine and Genetics, Institute of Urology, Peking University Shenzhen Hospital, Shenzhen PKU-HKUST Medical Center, Shenzhen, PR China. FAU - Li, Honggang AU - Li H AD - The Family Planning Research Institute/Center of Reproductive Medicine, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, PR China lhgyx@hotmail.com.