title: A novel variant of androgen receptor is associated with idiopathic azoospermia.
abstract: 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.
authors: Shenzhen Domesticated Organ Medical Engineering Research and Development Center, Shenzhen Second People's Hospital, First Affiliated Hospital of Shenzhen University, Shenzhen, Guangdong 518035, P.R. China.
authors: Lisha
authors: L
authors: Mou
authors: 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, Guangdong 518036, P.R. China.
authors: Yaoting
authors: Y
authors: Gui
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D000818:Animals; D053713:Azoospermia / Q000175:diagnosis / Q000235:genetics*; D017124:Conserved Sequence; D005091:Exons; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D017354:Point Mutation; D011944:Receptors, Androgen / Q000737:chemistry / Q000235:genetics*; D016415:Sequence Alignment; D013091:Spermatogenesis; D055815:Young Adult
chemical_list: C410798:AR protein, human; D011944:Receptors, Androgen