Microarray analysis of human spermatogenic dysfunction
Ontology highlight
ABSTRACT:
ORGANISM(S): Homo sapiens
PROVIDER: GSE4797 | GEO | 2006/05/12
SECONDARY ACCESSION(S): PRJNA95743
REPOSITORIES: GEO
Similar Datasets
Project description:Testicular biopsies were extracted surgically from men presenting with different states of spermatogenic impairments. The biopsies were scored histologically according to the Johnsen score system and microarrray technology was applied in order to correlate the gene expression pattern with the morphological categorization. Keywords: disease state analysis
2006-10-13 | GSE6023 | GEO
Project description:Expression profiling of mouse ing2 -/- testis vs WT reveals gene expression differences consistent with spermatogenic arrest and infertility. Ing2 is indispensable for male germ cell development in mice. While mice deficient for Ing2 were born and grew without apparent abnormalities, male, but not female, were infertile, consistent with the highest expression of Ing2 in testes in wild-type mice and in humans. Histological and DNA content analyses in Ing2-/- testes revealed a spermatogenesis arrest at meiotic phase and enhanced apoptosis associated with increased p53, resulting in a decline in mature spermatozoa, which became more severe in older age. HDAC1 accumulation and core histone deacetylation at pachytene stage were impaired in Ing2-/- testes, suggesting that the recruitment of HDAC1 by Ing2 plays a critical role in spermatogenesis. This study establishes Ing2 as a novel mammalian regulator of spermatocyte differentiation, which coordinates spermatogenesis stage-specific histone modifications. This study has implications in understanding human male infertility. Testis from WT and Ing2 KO mice at 2-3 months of age where analyzed for differences in gene expression.
2010-11-19 | E-GEOD-18610 | biostudies-arrayexpress
Project description:Expression profiling of mouse ing2 -/- testis vs WT reveals gene expression differences consistent with spermatogenic arrest and infertility. Ing2 is indispensable for male germ cell development in mice. While mice deficient for Ing2 were born and grew without apparent abnormalities, male, but not female, were infertile, consistent with the highest expression of Ing2 in testes in wild-type mice and in humans. Histological and DNA content analyses in Ing2-/- testes revealed a spermatogenesis arrest at meiotic phase and enhanced apoptosis associated with increased p53, resulting in a decline in mature spermatozoa, which became more severe in older age. HDAC1 accumulation and core histone deacetylation at pachytene stage were impaired in Ing2-/- testes, suggesting that the recruitment of HDAC1 by Ing2 plays a critical role in spermatogenesis. This study establishes Ing2 as a novel mammalian regulator of spermatocyte differentiation, which coordinates spermatogenesis stage-specific histone modifications. This study has implications in understanding human male infertility.
2010-11-19 | GSE18610 | GEO
Project description:To study global transcriptional dynamics during human spermatogenesis we sequenced total RNA of human testicular biopsies with 5 specific histological phenotypes: Sertoli cell-only (SCO, n=3), spermatogenic arrests at the spermatogonial (SPG, n=4), spermatocyte (SPC, n=3), and spermatid (SPD, n=3) level, as well as normal spermatogenesis (Normal, n=3).
| EGAD00001008652 | EGA
Project description:Postnatal human male gonad development and function are known to involve many genes and pathways but our understanding of genome-wide developmental stage-specific and cell type-specific gene expression is far from complete. Integration of testicular and somatic data could elucidate regulatory mechanisms specifically controlling spermatogenesis and may yield insight into certain reproductive pathologies. Please note: AdMinus means that there is no Ad spermatogonia in the corresponding testicular biopsies of cryptorchid children. AdPlus means that Ad spermatogonia are present in the corresponding testicular biopsies of cryptorchid children. JS refers to Johnsen score.
2012-10-28 | E-TABM-1214 | biostudies-arrayexpress
Project description:The piRNA pathway is studied in great detail in Drosophila female germline. In this study we show that unlike the female germline where all Piwi proteins are expressed throughout oogenesis, Ago3 - a Piwi family protein shows a spatial expression male germline. To understand dynamics of piRNA pathway during spermatogonia and primary spermatocyte stages of male germline development, we used arrest mutants. The bag of marbles (bam) and benign gonial cell neoplasm (bgcn) mutants have only early mitotic dividing germline cells in the testes due to failure to progress to primary spermatocyte stage, the cannonball (can) and spermatocyte arrest (sa) mutant germline cells cannot progress beyond primary spermatocyte stage. To investigate the dynamics of the piRNA pathway during spermatogenesis in spermatogonia and primary spermatocyte stages, we used testicular tissues from these stage-specific arrested mutants. While we used entire bam and bgcn mutant testes for spermatogonia purification, we while we manually removed the apical regions of can and sa mutant testes to exclude mitotically dividing undifferentiated germline cells for primary spermatocytes purification. Our results show that piRNAs mapping to transposons are more abundant in spermatogonia, whereas those mapping to Suppressor of Stellate [Su(Ste)] and AT-chX are mostly expressed in primary spermatocytes. Furthermore we observed that transposon-mapping piRNAs with ping-pong signature are more abundant in spermatogonia albeit still detectable in primary spermatocytes where Ago3 is not expressed. These results suggest that robust piRNA production via ping-pong cycle takes place in spermatogonia, and to a lesser extent in primary spermatocytes even in the absence of Ago3. Consistently, piRNAs from ago3 mutant testes also exhibit the ping-pong signature, confirming that a non-canonical ping-pong cycle is acting during spermatogenesis. Our study provides a developmental dimension to the piRNA pathway and uncovers a new mechanism used in the male germline to silence transposons. The difference in piRNA from spermatogonia and primary spermatocyte stages was studied by comparing small RNAs from bam and bgcn mutant testis, which represent spermatogonia stages with the small RNAs from apex removed can and sa testis, representing primary spermatocyte stages. In the study we also studied effect of loss of Piwi family proteins Aub and Ago3, which have different spatial expression during male germline development.
2016-08-10 | E-GEOD-69417 | biostudies-arrayexpress
Project description:The piRNA pathway is studied in great detail in Drosophila female germline. In this study we show that unlike the female germline where all Piwi proteins are expressed throughout oogenesis, Ago3 - a Piwi family protein shows a spatial expression male germline. To understand dynamics of piRNA pathway during spermatogonia and primary spermatocyte stages of male germline development, we used arrest mutants. The bag of marbles (bam) and benign gonial cell neoplasm (bgcn) mutants have only early mitotic dividing germline cells in the testes due to failure to progress to primary spermatocyte stage, the cannonball (can) and spermatocyte arrest (sa) mutant germline cells cannot progress beyond primary spermatocyte stage. To investigate the dynamics of the piRNA pathway during spermatogenesis in spermatogonia and primary spermatocyte stages, we used testicular tissues from these stage-specific arrested mutants. While we used entire bam and bgcn mutant testes for spermatogonia purification, we while we manually removed the apical regions of can and sa mutant testes to exclude mitotically dividing undifferentiated germline cells for primary spermatocytes purification. Our results show that piRNAs mapping to transposons are more abundant in spermatogonia, whereas those mapping to Suppressor of Stellate [Su(Ste)] and AT-chX are mostly expressed in primary spermatocytes. Furthermore we observed that transposon-mapping piRNAs with ping-pong signature are more abundant in spermatogonia albeit still detectable in primary spermatocytes where Ago3 is not expressed. These results suggest that robust piRNA production via ping-pong cycle takes place in spermatogonia, and to a lesser extent in primary spermatocytes even in the absence of Ago3. Consistently, piRNAs from ago3 mutant testes also exhibit the ping-pong signature, confirming that a non-canonical ping-pong cycle is acting during spermatogenesis. Our study provides a developmental dimension to the piRNA pathway and uncovers a new mechanism used in the male germline to silence transposons.
2016-08-10 | GSE69417 | GEO
Project description:DNA methylation is an important regulator of the chromatin structure and is necessary for gene expression stability and maintenance of cell identitiy. However, to which extent DNA methylation changes during the key differentiation steps of human spermatogenesis remains largely unkown. Here, we generated genome wide methylomes (Enzymatic Methyl-sequencing) of human undifferentiated spermatogonia (Undiff), differentiating spermatogonia (Diff), tetraploid spermatocytes (4C) and haploid spermatids (1C) obtained from testicular tissues of three patients with qualitatively and quantitatively normal spermatogenesis (control, CTR). We also generated Undiff, Diff and 4C methylomes from two patients with impaired spermatogenesis (cryptozoospermic, CZ). Our study is the first to report about DNA methylation changes during human spermatogenesis.
| EGAS00001007449 | EGA
Project description:The testis is one of the most transcriptionallyactive organs, however how germ cell differentiation is controlled at the molecular level remains largely unknown. To study global transcriptional dynamics during human spermatogenesis we sequenced total RNA of human testicular biopsies with 5 specific histological phenotypes: Sertoli cell-only (SCO, n=3), spermatogenic arrests at the spermatogonial (SPG, n=4), spermatocyte (SPC, n=3), and spermatid (SPD, n=3) level, as well as normal spermatogenesis (Normal, n=3). To our knowledge, this work provides the most complete capture of the transcriptome and its dynamics during human spermatogenesis to date.
| EGAS00001006135 | EGA
Project description:The study was designed to identify differences in the expressed transcriptome of the two pathological human testis sample groups compared to normal spermatogenesis samples, with the objective of discovering genes related to the pathological condition. Transcriptional differences in human testis biopsies collected from men with normal spermatogenesis (NSP, n=3; intact germ cells, clinical score - 10), spermatid arrest (SDA, n=2; contains somatic cells and germ cells up to round spermatids, clinical score – 4-5) and Sertoli cell-only (SCO, n=2; complete absence of germ cells, clinical score - 0) phenotypes were assessed by RNA sequencing. A total of over 49 million reads were generated in NSP samples, over 24 million reads in SDA samples, and over 13 million reads in SCO samples. Differentially expressed genes (DEG) were identified based on a mean minimum count => 5, FDR <= 0.05 and log2FC fold change of >0.585 or <-0.585. Genes differentially expressed in pathological groups SDA and SCO compared to NSP, and genes differentially expressed in between the two pathological groups SDA and SCO were filtered. The study discovered a number of significantly differentially expressed genes (DEG) between groups as follows: NSP vs SDA n=1,873; SDA vs SCO n= 4,017; and NSP vs SCO n=10,253. A number of genes (n=10) were selected for further analysis by qRT-PCR and the detection of the protein (n=2) localization in testis by immunohistochemistry.
2024-12-05 | GSE224929 | GEO