title: A Novel Mutation of DAX-1 Associated with Secretory Azoospermia.
abstract: 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.
authors.affiliation: Shenzhen Key Laboratory of Genitourinary Tumor, Shenzhen Domesticated Organ Medical Engineering Research and Development Center, Shenzhen Second People's Hospital, First Affiliated Hospital of Shenzhen University, Shenzhen, 518035, China; Guangdong and Shenzhen Key Laboratory of Male Reproductive Medicine and Genetics, Institute of Urology, Peking University Shenzhen Hospital, Biomedical Research Institute, Shenzhen PKU-HKUST Medical Center, Shenzhen, 518036, China.
authors.forename: Lisha
authors.initials: L
authors.lastname: Mou
authors.affiliation: Shenzhen Key Laboratory of Genitourinary Tumor, Shenzhen Domesticated Organ Medical Engineering Research and Development Center, Shenzhen Second People's Hospital, First Affiliated Hospital of Shenzhen University, Shenzhen, 518035, China; Guangdong and Shenzhen Key Laboratory of Male Reproductive Medicine and Genetics, Institute of Urology, Peking University Shenzhen Hospital, Biomedical Research Institute, Shenzhen PKU-HKUST Medical Center, Shenzhen, 518036, China.
authors.forename: Nie
authors.initials: N
authors.lastname: Xie
authors.affiliation: Guangdong and Shenzhen Key Laboratory of Male Reproductive Medicine and Genetics, Institute of Urology, Peking University Shenzhen Hospital, Biomedical Research Institute, Shenzhen PKU-HKUST Medical Center, Shenzhen, 518036, China.
authors.forename: Lihua
authors.initials: L
authors.lastname: Yang
authors.affiliation: Shenzhen Key Laboratory of Genitourinary Tumor, Shenzhen Domesticated Organ Medical Engineering Research and Development Center, Shenzhen Second People's Hospital, First Affiliated Hospital of Shenzhen University, Shenzhen, 518035, China.
authors.forename: Yuchen
authors.initials: Y
authors.lastname: Liu
authors.affiliation: Shenzhen Key Laboratory of Genitourinary Tumor, Shenzhen Domesticated Organ Medical Engineering Research and Development Center, Shenzhen Second People's Hospital, First Affiliated Hospital of Shenzhen University, Shenzhen, 518035, China.
authors.forename: Ruiying
authors.initials: R
authors.lastname: Diao
authors.affiliation: Shenzhen Key Laboratory of Genitourinary Tumor, Shenzhen Domesticated Organ Medical Engineering Research and Development Center, Shenzhen Second People's Hospital, First Affiliated Hospital of Shenzhen University, Shenzhen, 518035, China.
authors.forename: Zhiming
authors.initials: Z
authors.lastname: Cai
authors.affiliation: The Center of Reproductive Medicine, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China.
authors.forename: Honggang
authors.initials: H
authors.lastname: Li
authors.affiliation: Guangdong and Shenzhen Key Laboratory of Male Reproductive Medicine and Genetics, Institute of Urology, Peking University Shenzhen Hospital, Biomedical Research Institute, Shenzhen PKU-HKUST Medical Center, Shenzhen, 518036, China.
authors.forename: Yaoting
authors.initials: Y
authors.lastname: Gui
mesh_terms: D000328:Adult; D000818:Animals; D053713:Azoospermia / Q000235:genetics*; D057137:DAX-1 Orphan Nuclear Receptor / Q000235:genetics*; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D013091:Spermatogenesis / Q000235:genetics*; D055815:Young Adult
chemical_list: D057137:DAX-1 Orphan Nuclear Receptor