scholarly journals Association of PIWIL4 genetic variants with germ cell maturation arrest in infertile Spanish men

2014 ◽  
Vol 16 (6) ◽  
pp. 931 ◽  
Author(s):  
Sara Larriba ◽  
Xavi Muñoz ◽  
Mercedes Navarro ◽  
Ana Mata ◽  
Lluís Bassas
2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Wen Liu ◽  
Xuan Gao ◽  
Haobo Zhang ◽  
Ran Liu ◽  
Yongzhi Cao ◽  
...  

AbstractSTAG3 is essential for male meiosis and testis of male Stag3−/− mice shows the histopathological type of germ cell maturation arrest (MA). Whether variants of the STAG3 gene exist in Chinese idiopathic non-obstructive azoospermia (NOA) patients needs to be determined. We recruited 58 Chinese NOA men with MA who underwent testis biopsy and 192 fertile men as the control group. The 34 exons of the STAG3 gene were amplified using polymerase chain reaction (PCR) and sequenced. We identified eight novel single nucleotide polymorphisms (SNPs), including two missense SNPs (c.433T > C in exon2 and c.553A > G in exon3), three synonymous SNPs (c.539G > A, c.569C > T in exon3, and c.1176C > G in exon8), and three SNPs in introns. The allele and genotype frequencies of the novel and other SNPs have no significant differences between two groups. Our results indicated that variants in the coding sequence of the STAG3 gene were uncommon in NOA patients with MA in Chinese population. Future studies in large cohorts of different ethnic populations will be needed to determine the association between the STAG3 gene and NOA.


2020 ◽  
Author(s):  
Wen Liu ◽  
Xuan Gao ◽  
Haobo Zhang ◽  
Ran Liu ◽  
Yongzhi Cao ◽  
...  

Abstract Background STAG3 is essential for male meiosis and testis of male Stag3-/- mice shows the histopathological type of germ cell maturation arrest (MA). Whether mutations of the STAG3 gene exist in Chinese idiopathic non-obstructive azoospermia (NOA) patients needs to be determined. Methods We recruited 58 Chinese NOA men with MA who underwent testis biopsy and 192 fertile men as the control group. The 34 exons of the STAG3 gene were amplified using polymerase chain reaction (PCR) and sequenced. Results We identified eight novel single nucleotide polymorphisms (SNPs), including two missense SNPs (c.433T>C in exon2 and c.553A>G in exon3), three synonymous SNPs (c.539G>A, c.569C>T in exon3, and c.1176C>G in exon8), and three SNPs in introns. The allele and genotype frequencies of the novel and other SNPs have no significant differences between two groups. Conclusions Our results indicated that mutations in the coding sequence of the STAG3 gene were uncommon in NOA patients with MA in Chinese population. Future studies in large cohorts of different ethnic populations will be needed to determine the association between the STAG3 gene and NOA.


2001 ◽  
Vol 81 (7) ◽  
pp. 919-928 ◽  
Author(s):  
Hans Stoop ◽  
Ruud van Gurp ◽  
Ronald de Krijger ◽  
Ad Geurts van Kessel ◽  
Beate Köberle ◽  
...  

Urology ◽  
2003 ◽  
Vol 62 (3) ◽  
pp. 571-574 ◽  
Author(s):  
V.V.S.S Chandrasekharam ◽  
M Srinivas ◽  
S.N Das ◽  
P Jha ◽  
M Bajpai ◽  
...  

Endocrinology ◽  
2011 ◽  
Vol 152 (5) ◽  
pp. 2076-2089 ◽  
Author(s):  
Catherine Itman ◽  
Chin Wong ◽  
Briony Hunyadi ◽  
Matthias Ernst ◽  
David A. Jans ◽  
...  

The establishment and maturation of the testicular Sertoli cell population underpins adult male fertility. These events are influenced by hormones and endocrine factors, including FSH, testosterone and activin. Activin A has developmentally regulated effects on Sertoli cells, enhancing proliferation of immature cells and later promoting postmitotic maturation. These differential responses correlate with altered mothers against decapentaplegic (SMAD)-2/3 signaling: immature cells signal via SMAD3, whereas postmitotic cells use both SMAD2 and SMAD3. This study examined the contribution of SMAD3 to postnatal mouse testis development. We show that SMAD3 production and subcellular localization are highly regulated and, through histological and molecular analyses, identify effects of altered Smad3 dosage on Sertoli and germ cell development. Smad3+/− and Smad3−/− mice had smaller testes at 7 d postpartum, but this was not sustained into adulthood. Juvenile and adult serum FSH levels were unaffected by genotype. Smad3-null mice displayed delayed Sertoli cell maturation and had reduced expression of androgen receptor (AR), androgen-regulated transcripts, and Smad2, whereas germ cell and Leydig cell development were essentially normal. This contrasted remarkably with advanced Sertoli and germ cell maturation and increased expression of AR and androgen-regulated transcripts in Smad3+/− mice. In addition, SMAD3 was down-regulated during testis development and testosterone up-regulated Smad2, but not Smad3, in the TM4 Sertoli cell line. Collectively these data reveal that appropriate SMAD3-mediated signaling drives normal Sertoli cell proliferation, androgen responsiveness, and maturation and influences the pace of the first wave of spermatogenesis, providing new clues to causes of altered pubertal development in boys.


2001 ◽  
Vol 20 (11) ◽  
pp. 585-589 ◽  
Author(s):  
P Kumar ◽  
A K Prasad ◽  
U Mani ◽  
B K Maji ◽  
K K Dutta

Trichloroethylene (TCE) is an organic solvent used in dry cleaning, metal degreasing, thinner for paints and varnishes, anesthetic agent, and so forth. Human beings are appreciably exposed to TCE vapours by inhalation route. The present study has been undertaken to investigate whether TCE inhalation may also bring about testicular toxic effects. Our results indicate that inhalation of TCE by male rats for 12 and 24 weeks brings about significant reduction in absolute testicular weight, and alters marker testicular enzymes activity associated with spermatogenesis and germ cell maturation, along with marked histopathological changes showing depletion of germs cells and spermatogenic arrest.


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