EGR4 is a master gene responsible for fertility in cryptorchidism
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ABSTRACT:
ORGANISM(S): Homo sapiens
PROVIDER: GSE16191 | GEO | 2009/09/01
SECONDARY ACCESSION(S): PRJNA117199
REPOSITORIES: GEO
Similar Datasets
Project description:RNA was isolated from testicular biopsies of cryptorchid boys. Gene expression profiles for these samples were investigated using Affymetrix arrays Whole testicular tissue was gained from cryptorchid boys aged 10 Months to 4.5 years as well as from controls of identical age. Each biopsy sample was collected for RNA isolation and GeneChip hybridization and was stored in cold 1x phosphate buffered saline (PBS). The tissue was then filtered through 100-nm nylon gauze. Fractions were collected, washed three times in 1x PBS, and snap-frozen in liquid nitrogen prior to storage at -80°C. An aliquot of each fraction was fixed in 1x PBS containing 1% formaldehyde (Polio, France) and 1% fetal calf serum (Eurabbie, France) and analyzed by DNA flow cytometry to determine its relative DNA content. Cell pellets and tissues were sheared in RLT buffer (Qiagen) supplemented with 1% β-Mercaptoethanol and further processed using a Qiashredder (Qiagen). The suspension was centrifuged for 2 min at maximum speed and the clarified lysate was stored at -80°C. Total RNA isolation was performed using RNeasy Mini-Spin columns (Qiagen) according to standard protocols. RNA quality was monitored using RNA Nano 6000 Chips and the 2100 BioAnalyzer (Agilent). cRNA synthesis, human U133 plus 2.0 GeneChip hybridization.
2009-09-01 | E-GEOD-16191 | biostudies-arrayexpress
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
Project description:<p>Differential Gene Expression in Cryptorchid Testes Study uses whole-genome RNA profiling of testicular biopsies to determine a potential causative role of isolated congenital cryptorchidism in azoospermia and/or infertility in the context of our previously published GeneChip data. Cryptorchid patients, aged 7 months to 5 years and otherwise healthy, were enrolled in this prospective study. During surgery, testicular tissue biopsies were obtained for histological examination and RNA-sequencing (RNA-seq). Fifteen patients were selected based on the histological results and were divided into two groups. Seven were classified as belonging to the high infertility risk (HIR) and eight to the low infertility risk (LIR) group. Cryptorchid boys in the high infertility risk group lacked transformation of gonocytes into Ad spermatogonia due to impaired mini puberty. This group of patients will be infertile despite successful surgery.</p>
| phs001275 | dbGaP
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: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.
2010-11-23 | GSE25518 | GEO
Project description:Testis developmental gene expression in cryptorchid boys at risk of azoospermia
| PRJNA133773 | ENA
Project description:We investigated the miRNA cluster miR-106b~25 as potential candidate causing male infertility. We analized single and double KO mice. Single KO show derregulation of multiple molecular pathways and disrupted early spermatogenesys, but retain fertility. Double KO show severely disrupted testicular histology and significantly reduced fertility.
2020-11-06 | E-MTAB-8964 | biostudies-arrayexpress
Project description:We investigated testicular biopsies from 28 men which presented with full spermatogenesis (Johnsen Score 10, 12 samples), arrest at the spermatid stage (Johnsen Score 8, 6 samples), arrest at spermatocyte stage (Johnsen Score 5, 5 samples) and Sertoli-cell-only syndrom (Johnsen Score 2, 5 samples). Testicular biopsies were obtained by the "sandwich" method and conserved in RNALater (Ambion) during surgery. Keywords: spermatogenesis germ cell differentiation Keywords: disease state analysis
2006-05-12 | GSE4797 | GEO
Project description:Background The precise regulation of testicular steroidogenesis is fundamental to male fertility. While many coiled-coil domain-containing (CCDC) proteins are critical structural components of spermatogenesis, the functional role of the testis-enriched CCDC117 remains undefined, presenting a significant gap in our understanding of local testicular regulation. Methods We generated a Ccdc117 knockout mouse model using CRISPR/Cas9 and characterized the phenotypic consequences through histology, computer-assisted sperm analysis (CASA), and fertility assessments. The molecular underpinnings were investigated via testis-wide RNA sequencing, Western blotting, immunofluorescence, and hormonal measurements. Results Ccdc117ko males developed a paradoxical phenotype: significant testicular hypotrophy alongside completely preserved fertility. Despite a ~25% reduction in testis size, sperm counts, motility, and spermatogenic progression were normal. Transcriptomic analysis uncovered a specific and coordinated upregulation of the steroidogenic pathway, which was validated by a concomitant increase in the protein levels of key enzymes (CYP17A1, StAR, HSD3B2) specifically within Leydig cells. Consequently, serum testosterone levels were significantly elevated by approximately two-fold without a concomitant rise in GnRH.
2026-03-31 | GSE311763 | GEO
Project description:Genome-wide expression profiling was performed on 50 core needle biopsies from 18 breast cancer patients using Affymetrix GeneChip Human Genome Plus 2.0 Arrays.
2010-08-12 | GSE23593 | GEO