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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

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

Project description:Infertility is a problem that affects approximately 15% of couples, and male infertility is responsible for 40-50% of these cases. The cause of male infertility is still poorly diagnosed and treated. One of the prominent causes of male infertility is disturbed spermatogenesis, which can lead to nonobstructive azoospermia (NOA). Whole-genome sequencing (WGS) allows us to identify novel rare variants in potentially NOA-associated genes, among others, in the ESX1 gene. The aim of this study was to activate the ESX1 gene using CRISPRa technology in human germ cells (testicular seminoma cells-TCam-2). Successful activation of the ESX1 gene in TCam-2 cells using the CRISPRa system was achieved, and the expression level of the ESX1 gene was significantly higher in modified TCam-2 cells than in WT cells or the negative control with nontargeted gRNA (p < 0.01). Using RNA-seq, a network of over 50 genes potentially regulated by the ESX1 gene was determined. Finally, 6 genes, NANOG, CXCR4, RPS6KA5, CCND1, PDE1C, and LINC00662, participating in cell proliferation and differentiation were verified in azoospermic patients with and without a mutation in the ESX1 gene as well as in men with normal spermatogenesis, where inverse correlations in the expression levels of the observed genes were noted.

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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.

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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.

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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]

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

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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.

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