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Whole Exome Sequencing of two non-obstructive azoospermia patients

ABSTRACT: Whole Exome Sequencing of two non-obstructive azoospermia patients

PROVIDER: PRJEB39182 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	ERR4314133_1.fastq.gz	Fastqsanger.gz
	ERR4314133_2.fastq.gz	Fastqsanger.gz
	ERR4314134_1.fastq.gz	Fastqsanger.gz
	ERR4314134_2.fastq.gz	Fastqsanger.gz

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Whole Exome Sequencing of two non-obstructive azoospermia patients

Project description:We collected blood samples of two non-obstructive azoospermia patients, and performed whole exome sequencing to explore the causal mutations for male infertility.

2021-06-22 | E-MTAB-9287 | biostudies-arrayexpress

In situ transcriptomic analysis of spermatocytes in non-obstructive azoospermia reveals senescence-like states in arrested spermatocytes

Project description:To investigate in situ transcriptome of spermatocytes in non-obstructive azoospermia , we microdissected spermatocytes in formalin-fixed paraffin-embedded testicular biopsy tissue from two types of non-obstructive azoospermia and obstructive azoospermia as a control, and then constructed cDNA libraries based on Smart-3SEQ method.

2023-08-02 | GSE238078 | GEO

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

Altered mRNA profile in testis of patients with“secondary idiopathic non-obstructive azoospermia”

Project description:Background: Non-obstructive azoospermia (NOA) is the most severe form of male infertility. Currently known causative factors, including congenital and several acquired causes can only account for approximately 30% of NOA cases. Causes for most patients with NOA remains unclear, which were known as idiopathic NOA (iNOA). However, whether iNOA is congenital defects or acquired abnormalities is a confusing problem due to the delayed diagnosis of this frustrating situation until childbearing age. Materials and Methods: In this study, several patients who were diagnosed as iNOA at this stage, but with a history of natural conceptions with female before were enrolled and defined as “secondary idiopathic NOA”. As little was known about these cases, we performed the mRNA expression profiling by Next-generation sequencing (NGS) in this three patients and other three patients with obstructive azoospermia (OA) as controls. Results: A series of mRNAs were found to be altered in testicular tissues between “secondary idiopathic NOA” and controls, including 6028 downregulated and 3402 upregulated mRNAs. GO analysis and KEGG analysis revealed a range of GO and KEGG terms, such as cellular process involved in reproduction, protein digestion and absorption, etc. Conclusion: Overall, this study introduces a novel classification called “secondary idiopathic NOA” in iNOA. We provide a global view of the altered mRNAs involved in spermatogenetic failure in these cases.

2022-06-01 | GSE190752 | GEO

Whole Transcriptome analysis to identify non-coding RNA regulators and hub genes in Sperm of non-obstructive azoospermia by microarray

Project description:Our study utilizes whole transcriptome analysis via microarray technology to uncover non-coding RNA regulators and hub genes within sperm samples afflicted by non-obstructive azoospermia. This comprehensive approach offers insight into the intricate molecular landscape underlying this condition, shedding light on potential regulatory mechanisms and key genetic players implicated in its pathogenesis.

2024-05-31 | GSE268452 | GEO

Altered mRNA profile in testis of patients with“secondary idiopathic non-obstructive azoospermia”

Project description:Altered mRNA profile in testis of patients with“secondary idiopathic non-obstructive azoospermia”

| PRJNA788390 | ENA

Loss-of-function mutations TDRD7 lead to a rare novel syndrome combining congenital cataract and non-obstructive azoospermia in humans

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

Whole Exome Sequencing Identifies Genes Associated With Non-Obstructive Azoospermia.

Project description:Background: Non-obstructive azoospermia (NOA) affects nearly 1% of men; however, the landscape of the causative genes is largely unknown. Objective: To explore the genetic etiology which is the fundamental cause of NOA, a prospective case-control study and parental-proband trio linkage analysis were performed. Materials: A total of 133 patients with clinicopathological NOA and 343 fertile controls were recruited from a single large academic fertility center located in Northeast China; in addition, eleven trio families were available and enrolled. Results: Whole exome sequencing-based rare variant association study between the cases and controls was performed using the gene burden association testing. Linkage analysis on the trio families was also interrogated. In total, 648 genes were identified to be associated with NOA (three of which were previously reported), out of which six novel genes were found further associated based on the linkage analysis in the trio families, and involved in the meiosis-related network. Discussion and Conclusion: The six currently identified genes potentially account for a fraction (3.76%, 5 out of 133 patients) of the heritability of unidentified NOA, and combining the six novel genes and the three previously reported genes together would potentially account for an overall 6.77% (9 out of 133 patients) heritability of unidentified NOA in this study.

| S-EPMC9043847 | biostudies-literature

RNA-seq based transcriptome profiles of the human testis tissues across multiple conditions, with an intention to mainly study non-obstructive azoospermia

Project description:To study alternatively spliced isoforms expressed differently in the testis of donors with Non-Obstructive Azoospermia (NOA), testicular biopsies were collected from donors with NOA condition (as identified by cytological examination) and Obstructive Azoospermia (OA), and Varicocele (VA) conditions. The biopsy samples were stored in RNA-later solution (Ambion, cat # AM7024), according to the manufacturer's guidelines. RNA was extracted using the RiboPure kit (Ambion cat # AM1924). Two normal commercial testicular RNA (Clontech cat. no.: 636533, Asian: lot no: 1105041; Caucasian: lot. no.: LOT1105214A) samples were also used. The RNA quality was checked with formaldehyde agarose gel electrophoresis as well as a micro-volume spectrophotometer. For NGS, testicular RNA from 8 NOA, 2 OA and 2 Varicocele donors were used. Paired-end library preparation was carried out using Illumina TruSeq RNA Library Prep Kit v2, and sequencing was done using the Illumina HiSeq 2000. After quality checks, seqtk (https://github.com/lh3/seqtk) was used for trimming low-quality reads. Alignments, identification of transcripts and the chimeric/transplice molecules, and their quantification were performed by Kallisto software. Sample segregation according to the corresponding donor condition was confirmed via clustering RNA-seq data from the samples.

2023-03-10 | GSE216907 | GEO

Biomarkers in semen/urine from non-obstructive azoospermia patients to predict the presence of testicular spermatozoa and spermatogonia

Project description:About half of testicular sperm extraction (TESE) procedures in men with non-obstructive azoospermia (NOA), including men with Klinefelter syndrome (KS), are unsuccessful. To avoid unnecessary invasive surgery, biomarkers for spermatozoa have been studied and identified. In addition, markers for spermatogonia in testis tissue have been researched. This study aimed to find biomarkers in semen and/or urine of NOA patients to predict the presence of spermatogonia in the testis. This would especially be interesting for young boys. Differentially expressed miRNAs were identified (1) between samples from patients with and those of patients without a positive TESE procedure as well as (2) between TESE negative patients with and those without spermatogonia. A total of ten up-regulated miRNAs (seven in seminal plasma and three in urine) were found in the TESE-negative/spermatogonia-positive group compared to the TESE-negative/spermatogonia-negative group. These miRNAs could become biomarkers for spermatogonia, however, more research is necessary.

2023-02-06 | GSE224511 | GEO

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