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ESX1 gene as a potential candidate responsible for male infertility in nonobstructive azoospermia

ABSTRACT: ESX1 gene as a potential candidate responsible for male infertility in nonobstructive azoospermia

PROVIDER: PRJNA945401 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR23879475_1.fastq.gz	Fastqsanger.gz
	SRR23879475_2.fastq.gz	Fastqsanger.gz
	SRR23879476_1.fastq.gz	Fastqsanger.gz
	SRR23879476_2.fastq.gz	Fastqsanger.gz
	SRR23879477_1.fastq.gz	Fastqsanger.gz

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ESX1 gene as a potential candidate responsible for male infertility in nonobstructive azoospermia

Project description:Infertility is a problem that affects around 15% of couples. In 40-50% of these couples male infertility is involved. The cause of male infertility is still poorly diagnosed and treated. One of the entities of male infertility is disturbed spermatogenesis, which can lead to nonobstructive azoospermia (NOA), with no sperm cells in the ejaculate. The whole genome sequencing (WGS) allow us to identify novel rare variants in potentially NOA-associated genes. One of them was ESX1 gene. The aim of the study was to activate the ESX1 gene using CRISPRa technology in testicular seminoma cells - TCam2. In this study we achieved the successful activation of ESX1 gene in genetically modified TCam-2 cells using CRISPRa system, in which the expression level of ESX1 gene was significantly higher compared to WT cells and negative control with non-targeted sgRNA (p<0.01). These results were successfully confirmed at protein level by using Western blotting and immunofluorescence. Using RNA-seq analysis we determined the genes that were potentially regulated by ESX1 gene. Such genes associated with proliferation and apoptosis process: CCND1, KDR, WNT11, LGALS3, LINC00662, PDE1C, RPS6KA5, FGF4, NANOG, L1TD1, which were differently expressed in cells with ESX1 gene activation in comparison to the controls (p<0.05).

2023-10-11 | GSE227497 | GEO

Potential biomarkers of non-obstructive azoospermia identified in microarray gene expression analysis

Project description:We analyzed gene expression profiles of human testicular biopsies in men with idiopathic nonobstructive azoospermia. Using new generation oligonucleotide microarray platform GeneChipM-BM-. Human Gene 1.0 ST, we identified genes which could be potential biomarkers of azoospermia and molecular indicators that could determine a particular stage of impaired spermatogenesis. Thus, we shed light on genes which were had so far been weakly characterized and which were had never related to infertility before. These studies also included the comparative analysis of the hierarchical clustering of gene expression profile with histopathological data provided for azoospermic patients. We analyzed 31 testicular biopsy samples with Affymetrix Human Gene 1.0 ST microarrays. 27 of them were obtained from patients with various types of NOA and 4 with normal spermatogenesis.

2013-09-16 | E-GEOD-45885 | biostudies-arrayexpress

Potential biomarkers of non-obstructive azoospermia identified in microarray gene expression analysis

Project description:We analyzed gene expression profiles of human testicular biopsies in men with idiopathic nonobstructive azoospermia. Using new generation oligonucleotide microarray platform GeneChip® Human Gene 1.0 ST, we identified genes which could be potential biomarkers of azoospermia and molecular indicators that could determine a particular stage of impaired spermatogenesis. Thus, we shed light on genes which were had so far been weakly characterized and which were had never related to infertility before. These studies also included the comparative analysis of the hierarchical clustering of gene expression profile with histopathological data provided for azoospermic patients.

2013-09-16 | GSE45885 | GEO

Whole Exome Sequencing of two non-obstructive azoospermia patients

Project description:We collected blood samples of two non-obstructive azoospermia patients, and performed whole exome sequencing to explore the causal mutations for male infertility.

2021-06-22 | E-MTAB-9287 | biostudies-arrayexpress

Rescue of Male Infertility through Correcting a Genetic Mutation Causing Meiotic arrest in Spermatogonial Stem Cells [WGS]

Project description:Azoospermia patients who carry a monogenetic mutation that causes meiotic arrest may have their biological child through genetic correction in spermatogonial stem cells (SSCs). However, such therapy for infertility has not been experimentally investigated yet. In this study, a mouse model with X-linked TEXT11 mutation (Tex11PM/Y) identified in azoospermia patients exhibited meiotic arrest due to aberrant chromosome segregation. Text11PM/Y SSCs could be isolated and expanded in vitro normally and the mutation was corrected by CRISPR-Cas9, leading to generation of repaired SSC lines. Whole-genome sequencing demonstrated that mutation rate in repaired SSCs are comparable with autonomous mutation in untreated Text11PM/Y SSCs, and no predicted off-target sites are modified. Repaired SSCs could restore spermatogenesis in infertility males and give rise to fertile offspring at a high efficiency. In summary, our study establishes a paradigm for the treatment of male azoospermia by combining in vitro expansion of SSCs and gene therapy.

2020-10-05 | GSE158978 | GEO

Rescue of Male Infertility through Correcting a Genetic Mutation Causing Meiotic arrest in Spermatogonial Stem Cells [RNA-seq]

2020-10-05 | GSE158977 | GEO

Potential biomarkers tah could help to determine the prognosis of azoospermia treatment

2015-12-31 | GSE51111 | GEO

Potential biomarkers tah could help to determine the prognosis of azoospermia treatment

Project description:We analyzed gene expression profiles of human testicular biopsies in men with idiopathic nonobstructive azoospermia who underwent therapy with hCG/rFSH. Using new generation oligonucleotide microarray platform GeneChipÂ® Human Gene 1.0 ST, we identified genes which could be potential prognostic biomarkers of azoospermia treatment. We analyzed 6 testicular biopsy samples with Affymetrix Human Gene 1.0 ST microarrays. 3 of them were obtained from patients with NOA, who positively responded to hormonal therapy and 3 non-respoders.

2015-12-31 | E-GEOD-51111 | biostudies-arrayexpress

Comparative transcriptomics: finding candidate genes responsible for kale domestication

Project description:Comparative transcriptomics: finding candidate genes responsible for kale domestication

| PRJNA628864 | ENA

Systematic characterization of seminal plasma piRNAs as molecular biomarkers for male infertility

Project description:Although piwi-interacting RNAs (piRNAs) play pivotal roles in spermatogenesis, little is known about piRNAs in the seminal plasma of infertile males. In this study, we systematically investigated the profiles of seminal plasma piRNAs in infertile males to identify piRNAs that are altered during infertility and evaluate their diagnostic value. Seminal plasma samples were obtained from 211 infertile patients (asthenozoospermia and azoospermia) and 91 fertile controls. High-throughput sequencing technology was employed to screen piRNA profiles in seminal plasma samples pooled from healthy controls and infertile patients. The results identified 61 markedly altered piRNAs in the infertile patient groups compared with the control group. Next, a quantitative RT-PCR assay was conducted in the training and validation sets to measure and confirm the concentrations of altered piRNAs. The results identified a panel of 5 piRNAs that were significantly decreased in the seminal plasma of infertile patients compared with healthy controls. The areas under the ROC curves for these piRNAs ranged from 0.796 to 0.996, suggesting that the diagnostic potential of these 5 piRNAs to distinguish asthenozoospermic and azoospermic individuals from healthy controls was high. In summary, this study identifies a panel of piRNAs that can accurately distinguish fertile from infertile males. This finding may provide pathophysiological clues that are involved in the development of infertility. Fresh samples were collected and stored at -80â??.Total RNA of seminal plasma were extracted and solexa sequencing was performed.

2016-06-28 | E-GEOD-78131 | biostudies-arrayexpress

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