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TKTL1: a new candidate gene in nonobstructive azoospermia

ABSTRACT: TKTL1: a new candidate gene in nonobstructive azoospermia

PROVIDER: PRJNA1092347 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR28465830_1.fastq.gz	Fastqsanger.gz
	SRR28465830_2.fastq.gz	Fastqsanger.gz
	SRR28465831_1.fastq.gz	Fastqsanger.gz
	SRR28465831_2.fastq.gz	Fastqsanger.gz
	SRR28465832_1.fastq.gz	Fastqsanger.gz

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TKTL1: a new candidate gene in nonobstructive azoospermia

Project description:The genetic background of the non-obstructive azoospermia (NOA) remains poorly known. However, recent studies employing next generation sequencing techniques were able to uncover some NOA causative genes, among which was the TKTL1 gene. In this article we aim to understand the function of the TKTL1 gene in human spermatogenesis by inducing its overexpression in human testicular primary cells (hTPc), which we verified in male gonad tissue samples collected from NOA patients by uncovering the genes cluster regulated by TKTL1. Successful overexpression of the TKTL1 gene was achieved in hTP cells, the TKTL1 gene expression level was significantly higher in modified cells compared to both control groups (p<0.01). Using RNA-seq, we selected 20 genes which expression levels significantly differed in the modified hTP cells overexpressing TKTL1 gene in comparison to both controls. Male gonad tissue samples collected from NOA patients harbouring a mutation in the TKTL1 gene showed a significant downregulation (p<0.05) in HERC5, CSF3, HES1 and HSPA1B genes, compared to both controls, which was in accordance with the results obtained for hTPc cells, as the overexpression of the TKTL1 gene correlated with an increased expression level of the named genes compared to control groups.

2025-05-01 | GSE262557 | GEO

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

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

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

2015-12-31 | GSE51111 | 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 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

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

ZMYM3 : a new candidate gene in nonobstructive azoospermia?

Project description: Not available

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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.

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

Testis developmental gene expression in cryptorchid boys at risk of azoospermia

Project description:Despite timely and successful surgery, 32% of patients with bilateral and 10% with unilateral cryptorchidism will develop azoospermia. Cryptorchid boys at risk of azoospermia display a typical testicular histology of impaired mini-puberty at the time of the orchidopexy. During mini-puberty increased gonadotropin and testosterone secretion stimulate transformation of gonocytes into Ad spermatogonia. In azoospermia risk group this transformation is to a great extent impaired. This study aimed to analyze data on whole genome expression signatures of undescended testes at risk of developing azoospermia.

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Project description:The project aimed to compare testicular proteomes from patients with obstructive and non-obstructive azoospermia in order to identify molecular signatures involved in spermatogenesis as well to identify candidate biomarkers for discriminating between different types of azoospermia. The samples used in this study were formalin fixed paraffin embedded (FFPE) testicular tissues obtained by biopsy from men with clinical diagnosis of azoospermia. Samples were grouped according to the histopathological report in 3 groups: 1) Spermatogenesis (obstructive azoospermia), 2) Hypospermatogenesis and 3) Sertoli cell only syndrome (SCO). Patients were aged 31–46 years with no differences among groups regarding age (Median age (Hypospermatogenesis) =35; Median age (SCO) =34 and Median age (Spermatogenesis) =39). Each group had 9 samples or 27 samples in total were used for the comparative proteomics analysis by label-free data-independent LC-MS/MS.

2022-07-31 | PXD032722 | Pride

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

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