Mutational analysis of the GATA4 gene in Chinese men with nonobstructive azoospermia
Autor: | Yuehong Bian, Haobo Zhang, Tai-Jian Zhang, Wen Liu, Yunna Ning, Hongbin Liu, Yongzhi Cao, Jinlong Ma, Xu Zhang |
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Jazyk: | angličtina |
Rok vydání: | 2021 |
Předmět: |
Untranslated region
Adult Male Transcriptional Activation China endocrine system Urology DNA Mutational Analysis Mutation Missense Single-nucleotide polymorphism Biology medicine.disease_cause lcsh:RC870-923 Polymorphism Single Nucleotide Transactivation Asian People nonobstructive azoospermia Conditional gene knockout medicine Missense mutation Humans biological function reproductive and urinary physiology Azoospermia Genetics Mutation Steroidogenic acute regulatory protein General Medicine respiratory system medicine.disease Phosphoproteins lcsh:Diseases of the genitourinary system. Urology GATA4 Transcription Factor Claudins embryonic structures cardiovascular system Original Article GATA-binding protein 4 (GATA4) mutation gata-binding protein 4 (gata4) mutation |
Zdroj: | Asian Journal of Andrology, Vol 23, Iss 2, Pp 205-210 (2021) Asian Journal of Andrology |
ISSN: | 1745-7262 |
Popis: | 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. |
Databáze: | OpenAIRE |
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