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A Novel Missense Mutation in USP26 Gene Is Associated With Nonobstructive Azoospermia
- Source :
- Reproductive Sciences. 23:1434-1441
- Publication Year :
- 2016
- Publisher :
- Springer Science and Business Media LLC, 2016.
-
Abstract
- 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 probabl...
- Subjects :
- Adult
Male
0301 basic medicine
Silent mutation
Immunoprecipitation
Mutation, Missense
Biology
USP26
03 medical and health sciences
Genetic variation
Humans
Missense mutation
Luciferase
Spermatogenesis
Gene
Genetic Association Studies
Azoospermia
Genetics
Obstetrics and Gynecology
Original Articles
Middle Aged
Androgen receptor
Cysteine Endopeptidases
030104 developmental biology
Receptors, Androgen
HeLa Cells
Subjects
Details
- ISSN :
- 19337205 and 19337191
- Volume :
- 23
- Database :
- OpenAIRE
- Journal :
- Reproductive Sciences
- Accession number :
- edsair.doi.dedup.....78259f20c92e5d568865de0690d2150e