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

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 reduc

SUBMITTER: Ma Q 

PROVIDER: S-EPMC5933177 | biostudies-literature | 2016 Oct

REPOSITORIES: biostudies-literature