A novel variant of androgen receptor is associated with idiopathic azoospermia

被引：9

作者：

Mou, Lisha ^{[1
,2
]}

Gui, Yaoting ^{[2
]}

机构：

[1] Shenzhen Univ, Shenzhen Peoples Hosp 2, Shenzhen Domesticated Organ Med Engn Res & Dev Ct, Affiliated Hosp 1, 3002 West Sungang Rd, Shenzhen 518035, Guangdong, Peoples R China

[2] Peking Univ, Guangdong & Shenzhen Key Lab Male Reprod Med & Ge, Shenzhen PKU HKUST Med Ctr, Inst Urol,Shenzhen Hosp,Biomed Res Inst, 1120 Lianhua Rd, Shenzhen 518036, Guangdong, Peoples R China

来源：

MOLECULAR MEDICINE REPORTS | 2016年 / 14卷 / 04期

基金：

中国国家自然科学基金;

关键词：

male infertility; idiopathic azoospermia; androgen receptor; variant; AR COREGULATORS; SPERMATOGENESIS; INFERTILITY;

D O I：

10.3892/mmr.2016.5587

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

A variety of genetic variants can lead to abnormal human spermatogenesis. The androgen receptor (AR) is an important steroid hormone receptor that is critical for male sexual differentiation and the maintenance of normal spermatogenesis. In the present study, each exon of AR in 776 patients diagnosed with idiopathic azoospermia (IA) and 709 proven fertile men were sequenced using use panel re-sequencing methods to examine whether AR is involved in the pathogenesis of IA. Two synonymous variants and seven missense variants were detected. Of the missense variants, a luciferase assay demonstrated that the R630W variant reduced the transcriptional regulatory function of AR. This novel variant (p. R630W) of AR is the first to be identified in association with IA, thereby highlighting the importance of AR during spermatogenesis.

引用

页码：2915 / 2920

页数：6

共 23 条

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