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学科主题: 临床医学
题名:
A Novel Mutation of DAX-1 Associated with Secretory Azoospermia
作者: Mou, Lisha1,2; Xie, Nie1,2; Yang, Lihua2; Liu, Yuchen1; Diao, Ruiying1; Cai, Zhiming1; Li, Honggang3; Gui, Yaoting2
刊名: PLOS ONE
发表日期: 2015-07-24
DOI: 10.1371/journal.pone.0133997
卷: 10, 期:7
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Multidisciplinary Sciences
研究领域[WOS]: Science & Technology - Other Topics
关键词[WOS]: ADRENAL HYPOPLASIA CONGENITA ; ANDROGEN RECEPTOR ; HYPOGONADOTROPIC HYPOGONADISM ; SEX DETERMINATION ; INFERTILITY ; EXPRESSION ; MALES
英文摘要:

Secretory azoospermia is a severe form of male infertility caused by unknown factors. DAX-1 is predominantly expressed in mammalian reproductive tissues and plays an important role in spermatogenesis because Dax-1 knockout male mice show spermatogenesis defects. To examine whether DAX-1 is involved in the pathogenesis of secretory azoospermia in humans, we sequenced all of the exons of DAX-1 in 776 patients diagnosed with secretory azoospermia and 709 proven fertile men. A number of coding mutations unique to the patient group, including two synonymous mutations and six missense mutations, were identified. Of the missense mutations, our functional assay demonstrated that the V385L mutation caused the reduced functioning of DAX-1. This novel mutation (p. V385L) of DAX-1 is the first to be identified in association with secretory azoospermia, thereby highlighting the important role of DAX-1 in spermatogenesis.

语种: 英语
所属项目编号: 31271244 ; 81200465 ; GJHZ20140414170821192 ; JCYJ20140414170821337 ; GJHZ20130412153906740
项目资助者: National Natural Science Foundation of China ; Shenzhen Foundation of Science and Technology
WOS记录号: WOS:000358622000188
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/64577
Appears in Collections:北京大学深圳医院_期刊论文

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作者单位: 1.Shenzhen Univ, Shenzhen Domesticated Organ Med Engn Res & Dev Ct, Shenzhen Peoples Hosp 2, Shenzhen Key Lab Genitourinary Tumor,Affiliated H, Shenzhen 518035, Peoples R China
2.Peking Univ, Guangdong & Shenzhen Key Lab Male Reprod Med & Ge, Shenzhen PKU HKUST Med Ctr, Biomed Res Inst,Shenzhen Hosp,Inst Urol, Shenzhen, Peoples R China
3.Huazhong Univ Sci & Technol, Tongji Med Coll, Ctr Reprod Med, Wuhan 430030, Peoples R China

Recommended Citation:
Mou, Lisha,Xie, Nie,Yang, Lihua,et al. A Novel Mutation of DAX-1 Associated with Secretory Azoospermia[J]. PLOS ONE,2015,10(7).
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