Ontology highlight
ABSTRACT:
PROVIDER: PRJNA1025315 | ENA |
REPOSITORIES: ENA
Dataset's files
| Action | DRS | |||
|---|---|---|---|---|
| SRR26319108_1.fastq.gz | Fastqsanger.gz | |||
| SRR26319108_2.fastq.gz | Fastqsanger.gz | |||
| SRR26319109_1.fastq.gz | Fastqsanger.gz | |||
| SRR26319109_2.fastq.gz | Fastqsanger.gz | |||
| SRR26319110_1.fastq.gz | Fastqsanger.gz |
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Project description:<p>Sertoli cell-only syndrome is severe form of human male infertility in which most seminiferous tubules appear to lack all spermatogenic cells, including spermatogonial stem cells (SSCs). However, a few small tubule segments of some patients have active spermatogenesis and, thus, functional stem cell niches and SSCs. Normally SSCs replicate, migrate and refill adjacent empty niches, but this does not appear to occur in SCO syndrome. We hypothesized that this failure occurs because most niches are dysfunctional. As Sertoli cells are essential to formation of these niches, we used RNAseq to compare the transcriptomes of human testes with qualitatively normal (complete) spermatogenesis (n=4) with the transcriptomes of human testes with SCO syndrome (n=7). We then focused our analysis on the expression of transcripts that bioinformatic analyses identified as Sertoli cell signature transcripts. Results show that Sertoli cells in SCO testes express abnormally low levels of GDNF, FGF8 and BMP4, all of which are important regulators of mouse SSCs and/or progenitor spermatogonia. Sertoli cells in SCO testes express significantly reduced levels of transcripts for proteins that polarize the Sertoli cell plasma membrane and regulate the trafficking of cell adhesion and gap junction proteins in and out of that plasma membrane.</p>
| phs001777 | dbGaP
Project description:Blood-testis barrier (BTB) is essential to the microenvironment of spermatogenesis, and Sertoli cells provide the cellular basis for BTB construction. Numerous nuclear transcription factors have been identified to be vital for the proper functions of Sertoli cells. PA1 has been reported to play important roles during diverse biological processes, while its potential function in male reproduction is still unknown. Here, we show that PA1 was highly expressed in human and mouse testis and predominantly localized in the nuclei of Sertoli cells. Sertoli cell-specific Pa1 knockout resulted in azoospermia-like phenotype in mice. The knockout of this gene lead to multiple defects in spermatogenesis, such as the disorganization of cytoskeleton at basal and apical ectoplasmic specialization and the disruption of the BTB. Further transcriptomic analysis together with Cut-Tag results of PA1 in Sertoli cells revealed that PA1 could affect the expression of a subset of genes which are essential for the normal functions of Sertoli cells including those genes associated with actin organization and cellular junction such as Connexin43 (Cx43). We further demonstrated that the expression of Cx43 depended on the interaction between JUN, one of the AP-1 complex transcription factors, and PA1. Overall, our findings firstly revealed that PA1 is essential to the maintaining of BTB integrity in Sertoli cells, it regulates BTB construction-related gene expression via interacting a transcription factor, thus providing a potential diagnostic or even therapeutic target for some azoospermia patients.
2022-04-13 | GSE188307 | GEO
Project description:Spermatogenesis is an essential process to generate male gametes in vertebrates, and it has become an important social health problem caused by spermatogenesis disorder. However, the molecular mechanism underlying spermatogenesis, particularly epigenetic modification in Sertoli cells of testis, remain elusive. In this study we generated Rnf20 conditional knockout mice by recombinant mothed, and only to find that Rnf20 knockout in Sertoli cells led to male infertility.
2023-04-12 | GSE225232 | GEO
Project description:Post-transcriptional regulatory mechanisms are crucial for protein synthesis during spermatogenesis and often organized by the chromatoid body. Chromatoid bodies are large cytoplasmic ribonucleoprotein granules, whose precise function and composition remain unclear. Here, we identify NSun2 as a novel component of the chromatoid body, and further show that this RNA methylase is essential for germ cell differentiation in the mouse testis. Lack of NSun2 leads to down-regulation of genes controlling RNA processing and post-transcriptional repression pathways, including Ddx4, Mili, Piwil1 (Miwi) and Tudor domain containing (Tdrd) proteins. Germ cell differentiation was blocked specifically at the pachytene stage by lack of NSun2, as spermatogonial and Sertoli cells were unaffected in knockout mice. We observed the same phenotype when we simultaneously deleted NSun2 with Dnmt2, the only other characterized cytosine-5 RNA methyltransferase to date, indicating that Dnmt2 was not functionally redundant for NSun2 in spermatogonial stem cells or Sertoli cells. Thus, our data indicate that RNA methylation pathways play an essential role in male germ cell differentiation. Four sample groups: Testes from Wild-type and NSun2 knock out mice at 15 and 49 days; 6 samples in each group
2013-02-07 | E-GEOD-39480 | biostudies-arrayexpress
Project description:The blood-testis barrier (BTB) is essential to the microenvironment of spermatogenesis, and Sertoli cells provide the cellular basis for BTB construction. Numerous nuclear transcription factors have been identified to be vital for the proper functioning of Sertoli cells. PA1 has been reported to play important roles during diverse biological processes, yet its potential function in male reproduction is still unknown. Here, we show that PA1 was highly expressed in human and mouse testis and predominantly localized in the nuclei of Sertoli cells. Sertoli cell-specific Pa1 knockout resulted in an azoospermia-like phenotype in mice. The knockout of this gene led to multiple defects in spermatogenesis, such as the disorganization of the cytoskeleton during basal and apical ectoplasmic specialization and the disruption of the BTB. Further transcriptomic analysis, together with Cut-Tag results of PA1 in Sertoli cells, revealed that PA1 could affect the expression of a subset of genes that are essential for the normal function of Sertoli cells, including those genes associated with actin organization and cellular junctions such as Connexin43 (Cx43). We further demonstrated that the expression of Cx43 depended on the interaction between JUN, one of the AP-1 complex transcription factors, and PA1. Overall, our findings reveal that PA1 is essential for the maintenance of BTB integrity in Sertoli cells and regulates BTB construction-related gene expression via transcription factors. Thus, this newly discovered mechanism in Sertoli cells provides a potential diagnostic or even therapeutic target for some individuals with azoospermia.
2022-04-13 | GSE188308 | GEO
Project description:Spermatogenesis, a fundamental process in male reproduction, is driven by an ordered series of events, which rely on the trafficking of specific proteins between nucleus and cytoplasm. The importin α family of proteins mediates movement of specific cargo proteins when bound to importin β. Importin α genes have distinct expression patterns in mouse testis, implying they may have unique roles during mammalian spermatogenesis. Here we use a loss-of-function approach to specifically determine the role of importin α7 (Kpna6) in spermatogenesis and male fertility. We show that ablation of importin α7 in male mice leads to infertility and has multiple cumulative effects on both germ cells and Sertoli cells culminating in oligozoospermia. Importin α7-deficient mice exhibit an impaired Sertoli cell function, including loss of Sertoli cells from the seminiferous epithelium and a compromised nuclear transport of the androgen receptor. Furthermore, our data demonstrate devastating defects in spermiogenesis that are accompanied by a disturbed histone-protamine-exchange in elongating spermatids, resulting in incomplete sperm maturation and a massive loss of sperms. Our work uncovers the essential role of importin α7 in spermatogenesis and hence in male fertility.
2021-09-20 | GSE160969 | GEO
Project description:Muscle Developmental Defects in Heterogeneous Nuclear Ribonucleoprotein A1 Knockout Mice
| PRJNA314880 | ENA
Project description:The Wilms tumor gene, Wt1, is specifically expressed in Sertoli cells (SCs) which support spermatogenesis. Germ cell loss was found in Wt1 knockout mice. In vitro studies demonstrated that Wt1 was essential for cell polarity maintenance in SCs. We used Digital Gene Expression Tag Profiling to detail the global programme of gene expression after Wt1 deletion in sertoli cell and identified 710 gene expression level change more than 2 times. Digital Gene Expression Tag Profiling analysis were performed using mRNA from control and Wt1-deficient Primary Sertoli cells, every group primare sertoli cell were from more than 30 mice.
2014-05-06 | E-GEOD-46664 | biostudies-arrayexpress
Project description:Elevated palmitic acid, a most abundant saturated fatty acid, is a risk factor for obesity complications. Here, we report that palmitic acid impairs spermatogenesis by inducing abnormal palmitoylation in Sertoli cells. Firstly, we proposed a correlation between palmitic acid and spermatogenesis by reporting a significant elevation of serum palmitic acid levels in patients with dyszoospermia. In palmitic acid -treated mice, the blood-testis barrier was found to be disrupted, and decreased tight junction protein expression was observed in palmitic acid-treated Sertoli cells. Palmitic acid entered the endoplasmic reticulum and induced endoplasmic reticulum stress, resulting in damage to Sertoli cell barriers.
2022-08-12 | PXD028778 | Pride