Ontology highlight
ABSTRACT:
PROVIDER: PRJNA770429 | ENA |
REPOSITORIES: ENA
Dataset's files
| Action | DRS | |||
|---|---|---|---|---|
| SRR16292957.fastq.gz | Fastqsanger.gz | |||
| SRR16292958.fastq.gz | Fastqsanger.gz | |||
| SRR16292959.fastq.gz | Fastqsanger.gz | |||
| SRR16292960.fastq.gz | Fastqsanger.gz | |||
| SRR16292961.fastq.gz | Fastqsanger.gz |
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Project description:Purpose: Comorbid familial non-obstructive azoospermia (NOA) and congenital cataract (CC) has not been reported previously, and no single human gene has been associated with both diseases in humans. Our purpose is to uncover novel human mutations and genes causing familial NOA and CC. Methods: We performed whole-exome sequencing for two brothers with both NOA and CC from a consanguineous family.The proband was also carried out SNP array analysis. Mutation screening of TDRD7 was performed in another similar consanguineous family and 176 patients with azoospermia or CC alone and 520 healthy controls. Histological analysis was performed for the biopsied testicle sample in one patient, and knockout mice were constructed to verify the phenotype of the mutation in TDRD7. Results: Two novel loss-of-function mutations (c.324_325insA (T110Nfs*30) and (c.688-689insA (p.Y230X), respectively) of TDRD7 were found in the affected patients from the two unrelated consanguineous families. Histological analysis demonstrated a lack of mature sperm in the male patient’s seminiferous tubules. The mutations were not detected in patients with CC or NOA alone. Mice with Tdrd7 gene disrupted at a similar position precisely replicated the human syndrome. Conclusions: We identified TDRD7 causing CC as a new pathogenic gene for male azoospermia in human, with an autosomal recessive mode of inheritance.
2017-06-15 | GSE100019 | GEO
Project description:Premature Ovarian Insufficiency (POI) refers to the decline and stagnation of ovarian function in women before the age of 40.POI-associated EIF4ENIF1 mutations and the distribution of functional domains in the EIF4ENIF1 protein have been separately described. However, not all the clinically observed EIF4ENIF1 mutations in POI cases fall in clearly defined functional domains of the EIF4ENIF1 protein. Herein, we introduce T&T seq as a new evaluation tool to sensitively measure the translation regulation capacities of EIF4ENIF1 proteins with clinically discovered mutations. The sequencing results showed that POI-associated EIF4ENIF1 mutations impaired its translation repression function to different degrees.
2024-04-09 | GSE240761 | GEO
Project description:Infertility affects about one in six couples attempting pregnancy, with the man responsible in approximately half of the cases. Because the pathophysiology underlying azoospermia is not elucidated, most male infertility is diagnosed as idiopathic. Genome-wide gene expression analyses with microarray on testis specimens from 47 non-obstructive azoospermia (NOA) and 11 obstructive azoospermia (OA) patients were performed, and 2,611 transcripts that preferentially included genes relevant to gametogenesis and reproduction according to Gene Ontology classification were found to be differentially expressed. Using a set of 945 of the 2,611 transcripts without missing data, NOA was further categorized into three classes using the non-negative matrix factorization method. These three subclasses showed differences in Johnsenâs score, FSH level, and LH level. In addition, the 52 genes showing high statistical difference between NOA subclasses (P < 0.01 with Tukey's post hoc test) were subjected to allelic association analyses to identify genetic susceptibilities in 442 NOA patients and 475 fertile men. After two rounds of screening, SNPs of the ADP-ribosyltransferase 3 (ART3) gene were associated with NOA with highest significance with ART3-SNP25 (rs6836703; P = 0.0025). Haplotypes with 5 SNPs were constructed, and the most common haplotype was found to be under-represented in patients (NOA 26.6 % versus control 35.3 %, P = 0.000073). Subjects having the most common haplotype showed an elevated level of testosterone, suggesting a protective effect of the haplotype on spermatogenesis. Thus, genome-wide gene expression analyses were used to identify genes involved in the pathogenesis of NOA, and ART3 was subsequently identified as a susceptibility gene for NOA. These findings clarify the molecular pathophysiology of NOA and suggest a novel therapeutic target in the treatment of NOA. Experiment Overall Design: Comparative analysis of two disease phenotypes, using testicular biopsy specimens from 47 NOA and 11 OA patients. No experimental replicates.
2008-06-16 | E-GEOD-9210 | biostudies-arrayexpress
Project description:This study is to identify urinary exosome microRNAs (miRNAs) that are unique to premature ovarian insufficiency (POI) with and without Turner syndrome and to use them as diagnostic markers for POI patients. We examined the miRNAexpression profile in urine exosomes from POI patients with and without Turner syndrome.
2022-09-28 | GSE205700 | GEO
Project description:Primary ovarian insufficiency (POI) is a clinical syndrome of ovarian dysfunction characterized by premature exhaustion of primordial follicles. POI causes infertility, serious daily life disturbances and long-term health risks. However, the underlying mechanism remains largely unknown. We have previously identified Basonuclin1 (BNC1) mutation from a large Chinese POI pedigree and find the targeted Bnc1 mutation mouse exhibites POI. In this study, we find that BNC1 plays a key role in the dynamic balance of ovarian reserve, and maintaining lipid metabolism and redox homeostasis in oocytes during follicular development. Deficiency of BNC1 results in premature follicular activation and accelerated follicular atresia, but doesn’t affect the ovarian primordial follicle reserve. Mechanistically, BNC1 targets the NF2-YAP pathway to trigger oocyte ferroptosis. Inhibition of ferroptosis significantly rescues POI. These findings uncover a novel pathologic mechanism of POI based on BNC1 deficiency and is the first report showing ferroptosis involved in oocyte death.
2022-08-31 | GSE194195 | GEO
Project description:The accurate diagnosis of non-obstructive azoospermia (NOA) and obstructive azoospermia (OA) is crucial for selecting appropriate clinical treatments. This study aimed to investigate the pivotal role of miRNAs in circulating plasma exosomes in distinguishing between NOA and OA, as well as uncovering the signaling pathways involved in azoospermia pathogenesis. In this study, differential expression of extracellular vesicles (EVs) miR-513c-5p and miR-202-5p was observed between NOA and OA patients, while the selenocompound metabolism pathway was identified as relevant to azoospermia pathogenesis through Gene Ontology and Kyoto Encyclopedia of Genes and Genomes analysis. The predictive power of these microRNAs was evaluated using ROC-AUC analysis, demonstrating promising sensitivity, specificity, and area under the curve values. A binomial regression equation incorporating circulating plasma levels of EVs miR-202-5p and miR-513c-5p along with follicle-stimulating hormone was calculated to provide a clinically applicable method for diagnosing NOA and OA. This study presents a non-invasive testing approach for distinguishing between NOA and OA, offering a valuable tool for clinical practice.
2025-06-18 | GSE270320 | GEO
Project description:Non -obstructive azoospermia (NOA) affects 1% of men. However, the unknowns of NOA pathogenesis and even normal spermatogenic microenvironment establishment severely limit the clinical efficacy of NOA treatment. We profiled > 80,000 human testicular single-cell transcriptomes from 10 healthy donors spanning the range from infant to adult and 7 NOA patients. Sertoli cells, which form the scaffold in the testicular microenvironment, exhibited the most obvious damages in NOA patients. We identified roadmap of Sertoli cell maturation. Notably, Sertoli cells of patients with congenital causes (Klinefelter syndrome and Y chromosome microdeletions) are mature but with abnormal immune response, while the cells in idiopathic NOA (iNOA) are basically physiologically immature. Furthermore, inhibition of Wnt signaling promotes the maturation of Sertoli cells from iNOA patients, allowing these cells to regain their ability to support germ cell survival. We provide a novel perspective for the development of diagnostic methods and therapeutic targets for NOA.
2020-09-04 | GSE149512 | GEO
Project description:Background Non-obstructive azoospermia (NOA) is a leading cause of male infertility, affecting approximately 1% of men worldwide. Accurate pathological diagnosis and subclassification of NOA remain challenging due to the lack of reliable markers for germ cells (GCs) and Sertoli cells (SCs) within seminiferous tubules. Current histopathological evaluation relies on Hematoxylin and Eosin (H/E) staining, which lacks molecular specificity and cannot precisely quantify GCs or identify the stage of spermatogenic arrest. This limits both prognostic accuracy and the development of targeted therapeutic strategies. The identification of robust cellular and molecular markers is therefore essential to improve diagnosis, subclassification, and clinical management of NOA. Methods We performed immunofluorescence staining for SOX9, DAZL, and SYCP3 on 146 testicular samples to refine NOA subtyping. Single-cell RNA sequencing (scRNA-seq) was conducted on samples from 5 NOA patients, integrated with data from healthy and obstructive azoospermia (OA) controls. Candidate markers identified from SC-specific transcriptional profiles were validated via immunofluorescence in human and mouse testicular tissues. Findings Immunostaining enabled a refined classification of NOA into three subtypes: Maturation Arrest-Meiotic Arrested (MA-MA), Maturation Arrest-Premeiotic Arrested (MA-PA), and Sertoli cell-only (SCO). The scRNA-seq revealed that SCs in adult NOA patients exhibit an immature transcriptional state resembling prepubertal SCs, characterized by a distinct metabolic profile. From this profile, we identified LDHB and PKM2 as significantly upregulated markers in NOA SCs. Immunofluorescence confirmed their elevated expression in human NOA samples and in immature mouse testes. Interpretation Our integrated approach establishes a novel immunostaining-based classification for NOA and identifies an immature SC state as a key pathological feature. The overexpression of LDHB and PKM2 in SCs provides two new candidate biomarkers for improving the pathological diagnosis and subclassification of NOA, with potential implications for future diagnostic and therapeutic strategies.
2026-04-03 | GSE326372 | GEO