Mutational analysis of the

Author: Xu ZHANG ¹ ; Tai-Jian ZHANG ¹ ; Wen LIU ¹ ; Yun-Na NING ¹ ; Yue-Hong BIAN ¹ ; Yong-Zhi CAO ¹ ; Hong-Bin LIU ¹ ; Jin-Long MA ¹ ; Hao-Bo ZHANG ¹
Author Information

1. Center for Reproductive Medicine, Cheeloo College of Medicine, Shandong University, Jinan 250012, China.
Publication Type:Research Support, Non-U.S. Gov't
Keywords: GATA-binding protein 4 (GATA4); biological function; mutation; nonobstructive azoospermia
From: Asian Journal of Andrology 2021;23(2):205-210
CountryChina
Language:English
Abstract: As a crucial transcription factor for spermatogenesis, GATA-binding protein 4 (GATA4) plays important roles in the functioning of Sertoli and Leydig cells. Conditional knockout of GATA4 in mice results in age-dependent testicular atrophy and loss of fertility. However, whether GATA4 is associated with human azoospermia has not been reported. Herein, we analyzed the GATA4 gene by direct sequencing of samples obtained from 184 Chinese men with idiopathic nonobstructive azoospermia (NOA). We identified a missense mutation (c.191G>A, p.G64E), nine single-nucleotide polymorphisms (SNPs), and one rare variant (c.