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本文引用的文献

1
The role of deubiquitinating enzymes in spermatogenesis.去泛素化酶在精子发生中的作用。
Cell Mol Life Sci. 2015 Dec;72(24):4711-20. doi: 10.1007/s00018-015-2030-z. Epub 2015 Sep 8.
2
A functional variant in the UBE2B gene promoter is associated with idiopathic azoospermia.泛素结合酶E2B（UBE2B）基因启动子区的一个功能性变异与特发性无精子症相关。
Reprod Biol Endocrinol. 2015 Jul 30;13:79. doi: 10.1186/s12958-015-0074-4.
3
A Novel Mutation of DAX-1 Associated with Secretory Azoospermia.一种与分泌性无精子症相关的DAX-1新突变。
PLoS One. 2015 Jul 24;10(7):e0133997. doi: 10.1371/journal.pone.0133997. eCollection 2015.
4
Evidence from enzymatic and meta-analyses does not support a direct association between USP26 gene variants and male infertility.来自酶学分析和荟萃分析的证据并不支持USP26基因变异与男性不育之间存在直接关联。
Andrology. 2015 Mar;3(2):271-9. doi: 10.1111/andr.295. Epub 2015 Mar 5.
5
Excess of rare variants in genes that are key epigenetic regulators of spermatogenesis in the patients with non-obstructive azoospermia.非梗阻性无精子症患者中，精子发生关键表观遗传调节基因的罕见变异过多。
Sci Rep. 2015 Mar 5;5:8785. doi: 10.1038/srep08785.
6
Review of Azoospermia.无精子症综述
Spermatogenesis. 2014 Mar 31;4:e28218. doi: 10.4161/spmg.28218. eCollection 2014.
7
Ubiquitin Specific Protease 26 (USP26) expression analysis in human testicular and extragonadal tissues indicates diverse action of USP26 in cell differentiation and tumorigenesis.泛素特异性蛋白酶26（USP26）在人睾丸及性腺外组织中的表达分析表明USP26在细胞分化和肿瘤发生中具有多种作用。
PLoS One. 2014 Jun 12;9(6):e98638. doi: 10.1371/journal.pone.0098638. eCollection 2014.
8
Association of 370-371insACA, 494T>C, and 1423C>T haplotype in ubiquitin-specific protease 26 gene and male infertility: a meta-analysis.泛素特异性蛋白酶26基因中370 - 371insACA、494T>C和1423C>T单倍型与男性不育的关联：一项荟萃分析。
Asian J Androl. 2014 Sep-Oct;16(5):720-4. doi: 10.4103/1008-682X.129134.
9
Ubiquitin-specific protease (USP26) gene alterations associated with male infertility and recurrent pregnancy loss (RPL) in Iranian infertile patients.泛素特异性蛋白酶（USP26）基因改变与伊朗不孕患者的男性不育和复发性妊娠丢失（RPL）相关。
J Assist Reprod Genet. 2013 Jul;30(7):923-31. doi: 10.1007/s10815-013-0027-9. Epub 2013 Jun 19.
10
CUA Guideline: The workup of azoospermic males.加拿大泌尿外科学会指南：无精子症男性的检查
Can Urol Assoc J. 2010 Jun;4(3):163-7. doi: 10.5489/cuaj.10050.

USP26基因中的一种新型错义突变与非梗阻性无精子症相关。

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

作者信息

Ma Qian, Li Yuchi, Guo Huan, Li Cailing, Chen Jianbo, Luo Manling, Jiang Zhimao, Li Honggang, Gui Yaoting

机构信息

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.

The Family Planning Research Institute/Center of Reproductive Medicine, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, PR China

出版信息

Reprod Sci. 2016 Oct;23(10):1434-41. doi: 10.1177/1933719116641758. Epub 2016 Apr 18.

DOI:10.1177/1933719116641758
PMID:27089915
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5933177/
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 probably through affecting AR function.

摘要

目的

本研究旨在评估泛素特异性蛋白酶26（USP26）基因变异是否与非梗阻性无精子症（NOA）相关。

方法

本研究纳入了776例被诊断为NOA的患者和709例经证实有生育能力的男性。通过选定的外显子测序鉴定包括USP26在内的不育相关基因的遗传变异。在Hela和TM4细胞中，通过免疫沉淀和荧光素酶测定检测USP26突变对雄激素受体（AR）结合、泛素化和转录活性的影响。

结果

在NOA患者中鉴定出6种新的错义突变和1种USP26独特的新同义突变。在这些错义突变中，USP26 R344W显著降低了USP26与AR的结合亲和力和去泛素化活性，从而消除了USP26对Hela和TM4细胞中AR转录活性的抑制作用。

结论

一种新的USP26变体p.R344W可能通过影响AR功能与NOA相关。