IR@PKUHSC  > 北京大学深圳医院
学科主题临床医学
A dominant-negative mutation of HSF2 associated with idiopathic azoospermia
Mou, Lisha1; Wang, Yadong1; Li, Honggang2; Huang, Yi3,4; Jiang, Tao5; Huang, Weiren1; Li, Zesong3,4; Chen, Jing1; Xie, Jun1; Liu, Yuchen1; Jiang, Zhimao1; Li, Xianxin1; Ye, Jiongxian1; Cai, Zhiming3,4; Gui, Yaoting1
刊名HUMAN GENETICS
2013-02-01
DOI10.1007/s00439-012-1234-7
132期:2页:159-165
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Genetics & Heredity
资助者National Key Scientific Program of China ; Promotion Program for Shenzhen Key Laboratory ; Shenzhen Foundation of Science and Technology ; Biobank of Complex Diseases in Shenzhen ; National Key Scientific Program of China ; Promotion Program for Shenzhen Key Laboratory ; Shenzhen Foundation of Science and Technology ; Biobank of Complex Diseases in Shenzhen
研究领域[WOS]Genetics & Heredity
关键词[WOS]HEAT-SHOCK FACTOR-2 ; MOUSE TESTIS ; EXPRESSION ; SPERMATOGENESIS ; TRANSCRIPTION ; HSP70-2 ; DISRUPTION ; FERTILITY ; CELLS ; MICE
英文摘要

Idiopathic azoospermia (IA) is a severe form of male infertility due to unknown causes. The HSF2 gene, encoding the heat shock transcription factor 2, had been suggested to play a significant role in the spermatogenesis process since the Hsf2-knockout male mice showed spermatogenesis defects. To examine whether HSF2 is involved in the pathogenesis of IA in human, we sequenced all the exons of HSF2 in 766 patients diagnosed with IA and 521 proven fertile men. A number of coding mutations private to the patient group, which include three synonymous mutations and five missense mutations, were identified. Of the missense mutations, our functional assay demonstrated that one heterozygous mutation, R502H, caused a complete loss of HSF2 function and that the mutant suppressed the normal function of the wild-type (WT) allele through a dominant-negative effect, thus leading to the dominant penetrance of the mutant allele. These results support a role for HSF2 in the pathogenesis of IA and further implicate this transcription factor as a potential therapeutic target.

语种英语
所属项目编号2011CB944303 ; CXB201005250017A ; 200901015 ; JC200903180681A ; CXC201005260001A
资助者National Key Scientific Program of China ; Promotion Program for Shenzhen Key Laboratory ; Shenzhen Foundation of Science and Technology ; Biobank of Complex Diseases in Shenzhen ; National Key Scientific Program of China ; Promotion Program for Shenzhen Key Laboratory ; Shenzhen Foundation of Science and Technology ; Biobank of Complex Diseases in Shenzhen
WOS记录号WOS:000313518900005
Citation statistics
Cited Times:15[WOS]   [WOS Record]     [Related Records in WOS]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/66309
Collection北京大学深圳医院
作者单位1.Peking Univ, Shenzhen Hosp, Shenzhen PKU HKUST Med Ctr,Inst Urol, Guangdong & Shenzhen Key Lab Male Reprod Med & Ge, Shenzhen 518036, Peoples R China
2.Huazhong Univ Sci & Technol, Tongji Med Coll, Ctr Reprod Med, Wuhan 430030, Peoples R China
3.Shenzhen Univ, Affiliated Hosp 1, Shenzhen Peoples Hosp 2, Dept Urol Surg, Shenzhen 518035, Peoples R China
4.Shenzhen Univ, Affiliated Hosp 1, Shenzhen Peoples Hosp 2, Shenzhen Key Lab Genitourinary Tumor, Shenzhen 518035, Peoples R China
5.Beijing Genom Inst Shenzhen, Shenzhen 518083, Peoples R China
Recommended Citation
GB/T 7714
Mou, Lisha,Wang, Yadong,Li, Honggang,et al. A dominant-negative mutation of HSF2 associated with idiopathic azoospermia[J]. HUMAN GENETICS,2013,132(2):159-165.
APA Mou, Lisha.,Wang, Yadong.,Li, Honggang.,Huang, Yi.,Jiang, Tao.,...&Gui, Yaoting.(2013).A dominant-negative mutation of HSF2 associated with idiopathic azoospermia.HUMAN GENETICS,132(2),159-165.
MLA Mou, Lisha,et al."A dominant-negative mutation of HSF2 associated with idiopathic azoospermia".HUMAN GENETICS 132.2(2013):159-165.
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