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Mutational analysis of the GATA4 gene in Chinese men with nonobstructive azoospermia


1 Center for Reproductive Medicine, Cheeloo College of Medicine, Shandong University, Jinan 250012, China
2 National Research Centre for Assisted Reproductive Technology and Reproductive Genetics, Shandong University, Jinan 250012, China
3 Shandong Provincial Key Laboratory of Animal Cells and Developmental Biology, School of Life Sciences, Shandong University, Qingdao 266237, China

Correspondence Address:
Hao-Bo Zhang,
Center for Reproductive Medicine, Cheeloo College of Medicine, Shandong University, Jinan 250012, China; National Research Centre for Assisted Reproductive Technology and Reproductive Genetics, Shandong University, Jinan 250012, China

Jin-Long Ma,
Center for Reproductive Medicine, Cheeloo College of Medicine, Shandong University, Jinan 250012, China; National Research Centre for Assisted Reproductive Technology and Reproductive Genetics, Shandong University, Jinan 250012, China

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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/aja.aja_33_20

PMID: 32859868

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.*84C>T) in the 3´ untranslated region (UTR). Functional studies demonstrated that the p.G64E mutation did not affect transactivation ability of GATA4 for spermatogenesis-related genes (claudin-11 and steroidogenic acute regulatory protein, Star), and the 3´ UTR rare variant c.*84C>T did not generate microRNA-binding sites to repress GATA4 expression. To our knowledge, this is the first report to investigate the association between GATA4 and azoospermia; our results indicate that mutations in GATA4 may not be pathogenic for NOA in Chinese men.


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