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Functional Investigation of a Novel PIWIL4 Mutation in Nonobstructive Azoospermia During the First Wave of Spermatogenesis

ABSTRACT: Functional Investigation of a Novel PIWIL4 Mutation in Nonobstructive Azoospermia During the First Wave of Spermatogenesis

PROVIDER: PRJNA1080283 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR28088689_1.fastq.gz	Fastqsanger.gz
	SRR28088689_2.fastq.gz	Fastqsanger.gz
	SRR28088690_1.fastq.gz	Fastqsanger.gz
	SRR28088690_2.fastq.gz	Fastqsanger.gz
	SRR28088691_1.fastq.gz	Fastqsanger.gz

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Functional Investigation of a Novel PIWIL4 Mutation in Nonobstructive Azoospermia During the First Wave of Spermatogenesis

Project description:PIWI-interacting RNAs (piRNAs) are small noncoding RNAs that are almost exclusively expressed in germ cells where they work to silence harmful transposons to maintain genomic stability. It is proposed that the associated piRNAs guide the nuclear PIWIL4 to transposable elements where it recruits the DNA methylation apparatus and instructs de novo DNA methylation. Herein we identify a missense variant of PIWIL4 (c.805 C>T p.R269W) in two infertile males. Though male homozygous knock-in mice harboring the orthologous variant exhibit normal sperm counts and morphology, they display increased expression of transposable elements and abnormal gene expression during the first wave of spermatogenesis. Mechanistically, the mutated site impairs the piRNA-binding ability of PIWIL4 and leads to the derepression of some LINE-1 elements. In summary, we have identified a piRNA binding mutation in PIWIL4 that may be involved in human non-obstructive azoospermia.

2025-02-20 | GSE258973 | GEO

Transcriptomic sequencing of the murine testis during the first wave of spermatogenesis

Project description:Our experimental design includes samples at different time points during the first wave of spermatogenesis. Each time point corresponds to specific cell content in the testis. First time point is post natal day (PND) 7, when only somatic cells and spermatogonia are present in the testis. Thereafter additional cell types are present in selected samples in chronological order: PND 14 contains early spermatocytes, PND 17 late spermatocytes, PND 21 round spermatids and finally PND 28 elongating spermatids. Our results highlight differentially expressed genes and gene isoforms, which are important for correct sperm development and male fertility. In addition, functional analysis suggests a highly controlled gene expression pattern during the first wave of spermatogenesis. Transcriptome sequencing of the mouse testes at PND 7, 14, 17, 21 and 28 for analysis of differences in gene expression pattern during the first wave of spermatogenesis. In total 10 samples were analysed, replicates for each time point.

2013-04-29 | E-GEOD-39970 | biostudies-arrayexpress

Transcriptomic sequencing of the murine testis during the first wave of spermatogenesis

2013-04-29 | GSE39970 | GEO

Functional Investigation of a Novel PIWIL4 Mutation in Nonobstructive Azoospermia During the First Wave of Spermatogenesis.

Project description:PIWI-interacting RNAs (piRNAs) are small noncoding RNAs that are almost exclusively expressed in germ cells to silence harmful transposons to maintain genome stability. PIWIL4 is guided by its associated piRNAs to transposable elements, where it recruits the DNA methylation apparatus and instructs de novo DNA methylation. Herein, we identified a missense variant of PIWIL4 (c.805 C>T p.R269W) in two infertile males. Homozygous male mice carrying the orthologous knock-in variant displayed elevated transposable element expression and aberrant gene expression during the first wave of spermatogenesis, despite exhibiting normal sperm counts and morphology. Mechanistically, the mutated site altered the piRNA-binding ability of PIWIL4 and led to the derepression of endogenous LINE-1 elements. In summary, we identified a piRNA binding mutation in PIWIL4 that may be involved in human nonobstructive azoospermia.

| S-EPMC11852923 | biostudies-literature

Effect of Setx depletion on gene expression in the testis during the first-wave of spermatogenesis

Project description:Effect of Setx depletion on gene expression in the testis during the first-wave of spermatogenesis

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Riding the spermatogenic wave: Profiling gene expression within neonatal germ and Sertoli cells during a synchronized initial wave of spermatogenesis

2014-05-01 | GSE54408 | GEO

Riding the spermatogenic wave: Profiling gene expression within neonatal germ and Sertoli cells during a synchronized initial wave of spermatogenesis

Project description:WIN 18,446/RA treatment of neonatal mice was used to synchronize the initial wave of spermatogenesis and identify novel messages expressed within either germ or Sertoli cells as spermatogonia enter meiosis. germ cell-specific (Stra8-cre: RiboTag; or Ngn3-cre:RiboTag) and Sertoli cell-specific (Amh-Cre: RiboTag)

2014-05-01 | E-GEOD-54408 | biostudies-arrayexpress

Comparative proteomics analysis of FFPE testicular tissue from men with obstructive and non-obstructive azoospermia

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

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

Transcription profiling of testis biopsies to investigate 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. Twenty-three testicular biopsies from 22 boys were analyzed (19 testes from 18 boys with cryptorchidism) and 4 contralateral descended testes from patients with testicular agenesis. Expression profiling identified 483 genes not or under-expressed in the azoospermia risk group compared with the control and LAZR groups. Annotated loci were associated with spermatogenesis. Other significant genes were cellular defense response genes and hormone controlled loci involved in spermatogenesis. Some genes transcribed in normal adult meiotic and post-meiotic germ cells are activated in healthy juvenile Ad spermatogonia. Thus, molecular events initiating the testicular expression program at the onset of puberty and maintaining it during adulthood occur very early in prepubertal testes. This molecular event is to a great extent impaired in HAZR group lacking Ad spermatogonia (stem cells for spermatozoa) indicating impaired mini puberty.

2010-11-23 | E-GEOD-25518 | biostudies-arrayexpress

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