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A Novel Mutation of DAX-1 Associated with Secretory Azoospermia
Mou, Lisha1,2; Xie, Nie1,2; Yang, Lihua2; Liu, Yuchen1; Diao, Ruiying1; Cai, Zhiming1; Li, Honggang3; Gui, Yaoting2
刊名PLOS ONE
2015-07-24
DOI10.1371/journal.pone.0133997
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
WOS记录号WOS:000358622000188
引用统计
被引频次:3[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/64577
专题北京大学深圳医院
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
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GB/T 7714
Mou, Lisha,Xie, Nie,Yang, Lihua,et al. A Novel Mutation of DAX-1 Associated with Secretory Azoospermia[J]. PLOS ONE,2015,10(7).
APA Mou, Lisha.,Xie, Nie.,Yang, Lihua.,Liu, Yuchen.,Diao, Ruiying.,...&Gui, Yaoting.(2015).A Novel Mutation of DAX-1 Associated with Secretory Azoospermia.PLOS ONE,10(7).
MLA Mou, Lisha,et al."A Novel Mutation of DAX-1 Associated with Secretory Azoospermia".PLOS ONE 10.7(2015).
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