R383C mutation of human CDC20 results in idiopathic non-obstructive azoospermia
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Lingwei Li1,3, Liqing Fan1, Nanni Peng3, Lihua Yang2, Lisha Mou2 and Weiren Huang2
1Institute of Human Reproduction and Stem Cell Engineering, Central South University, Changsha 410078, China
2Key Laboratory of Medical Reprogramming Technology, Shenzhen Second People’s Hospital, The First Affiliated Hospital of Shenzhen University, Guangdong 518035, China
3Reproductive Medical Center, People’s Hospital of Luohu District, Shenzhen, Guangdong 518001, China
Liqing Fan, email: [email protected]
Lisha Mou, email: [email protected]om
Weiren Huang, email: [email protected]
Keywords: CDC20, CDC20 R383C mutant, Idiopathic azoospermia (IA)
Received: April 21, 2017 Accepted: July 06, 2017 Published: September 16, 2017
Idiopathic azoospermia (IA) is a severe form of male infertility due to unknown causes. To investigate relative gene expression in human idiopathic non-obstructive azoospermia, we sequenced all the exons of cell division cycle 20 (CDC20) in 766 patients diagnosed with IA, as well as in 521 normally fertile men. Three novel missense mutations (S72G, R322Q, R383C) of CDC20 were detected and further confirmed by Sanger sequencing. The mRNA levels of securin, cyclin B, cyclin dependent kinase 1 (CDK1), and cyclin dependent kinase 2 (CDK2), which are all targeted for destruction via the anaphase-promoting complex/cyclosomeCDC20 (APC/CCDC20) pathway, were detected at relatively high levels using real-time quantitative polymerase chain reaction analysis. This demonstrated that the CDC20 R383C mutation led to dysfunction during the transition from metaphase to anaphase and facilitation of mitotic exit in vitro, and caused prolonged mitotic arrest during the cell cycle. This study suggests that a CDC20 R383C mutation may result in the pathogenesis of human IA.
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