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The effect of ionomycin-induced oocyte activation on multiple morphological abnormalities of the sperm flagella

ABSTRACT: The effect of ionomycin-induced oocyte activation on multiple morphological abnormalities of the sperm flagella

PROVIDER: PRJNA894516 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR22046631_1.fastq.gz	Fastqsanger.gz
	SRR22046631_2.fastq.gz	Fastqsanger.gz
	SRR22046632_1.fastq.gz	Fastqsanger.gz
	SRR22046632_2.fastq.gz	Fastqsanger.gz
	SRR22046633_1.fastq.gz	Fastqsanger.gz

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Similar Datasets

The effect of ionomycin-induced oocyte activation on multiple morphological abnormalities of the sperm flagella

Project description:Artificial oocyte activation (AOA) is considered an effective method to improve clinical outcomes in patients with some forms of male factor infertility and does not increase the risk of birth defects. However, the effects of AOA on patients with multiple morphological abnormalities of the sperm flagella (MMAF) caused by a DNAH1 mutation are still unknown. To explore the effects, our study analyzed a case with MMAF due to DNAH1 homozygous mutation who underwent testicular sperm extraction (TESE) combined with intracytoplasmic sperm injection (ICSI). The case had 28 MII oocytes. The 28 oocytes were divided randomly and equally into AOA and non-AOA groups. Ionomycin was used for AOA. We compared the clinical outcomes of two groups and selected three blastulation failure embryos from each group for transcriptome analysis. Differentially expressed genes (DEGs) were determined with an adjusted P-value < 0.05 and a |log2-fold change| ≥ 1. The comparison of clinical outcomes showed that the two pronuclei (2PN) rate and grade 1–2 embryo rate at day 3 were not significantly different between the two groups. Transcriptome analyses of blastulation failure embryos showed that the use of AOA had potential risks of chromosome structure defects, transcriptional regulation defects, and epigenetic defects. In conclusion, when the case with MMAF due to DNAH1 mutation underwent TESE-ICSI, ionomycin-induced oocyte activation could not improve the clinical outcomes and introduced the risks of chromosome structure defect, transcriptional regulation defect, and epigenetic defect.

2023-02-11 | GSE216618 | GEO

Biallelic variants in CFAP61 cause multiple morphological abnormalities of the flagella and idiopathic male infertility

Project description:Biallelic variants in CFAP61 cause multiple morphological abnormalities of the flagella and idiopathic male infertility

| PRJEB48973 | ENA

Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella

Project description:Aberrant sperm flagella impair sperm motility and cause male infertility, yet the genes which have been identified in multiple morphological abnormalities of the flagella (MMAF) can only explain the pathogenic mechanisms of MMAF in a small number of cases. Here, we identify and functionally characterize homozygous loss-of-function mutations of QRICH2 in two infertile males with MMAF from two consanguineous families. Remarkably, Qrich2 knock-out (KO) male mice constructed by CRISPR-Cas9 technology present MMAF phenotypes and sterility. To elucidate the mechanisms of Qrich2 functioning in sperm flagellar formation, we perform proteomic analysis on the testes of KO and wild-type mice. Furthermore, in vitro experiments indicate that QRICH2 is involved in sperm flagellar development through stabilizing and enhancing the expression of proteins related to flagellar development. Our findings strongly suggest that the genetic mutations of human QRICH2 can lead to male infertility with MMAF and that QRICH2 is essential for sperm flagellar formation.

2019-11-12 | PXD011730 | Pride

Granulosa cell mevalonate pathway abnormalities contribute to oocyte meiotic defects and aneuploidy [RNA-seq mouse oocyte]

Project description:Granulosa cell mevalonate pathway abnormalities contribute to oocyte meiotic defects and aneuploidy [RNA-seq mouse oocyte]

| PRJNA857823 | ENA

Granulosa cell mevalonate pathway abnormalities contribute to oocyte meiotic defects and aneuploidy

Project description:Granulosa cell mevalonate pathway abnormalities contribute to oocyte meiotic defects and aneuploidy

| PRJNA734009 | ENA

Sigma 28-dependent small RNAs regulate timing of flagella biosynthesis

Project description:Synthesis of flagella is very energy intensive and, while extensive transcriptional regulation has been described, little is known about the post-transcriptional regulation. Small RNAs (sRNAs) are widespread posttranscriptional regulators; most base pairing with mRNAs to affect their stability and/or translation. Here we describe four UTR-derived sRNAs (UhpU, MotR, FliX and FlgO) whose expression is controlled by the flagella sigma factor, sigma 28 in Escherichia coli. UhpU, MotR and FliX have distinct impacts on flagellin levels, flagella number and swimming, with MotR accelerating flagella synthesis and FliX decelerating flagella synthesis. Interestingly, MotR and FliX are noncanonical in that they base pair within the coding sequences of target genes. We characterize their respective positive and negative effects on genes encoding ribosomal proteins.

2023-09-26 | GSE174487 | GEO

New Mutations in DNHD1 Cause Multiple Morphological Abnormalities of the Sperm Flagella.

Project description:Male infertility is a common and complex disease and presents as a wide range of heterogeneous phenotypes. Multiple morphological abnormalities of the sperm flagellum (MMAF) phenotype is a peculiar condition of extreme morphological sperm defects characterized by a mosaic of sperm flagellum defects to a total asthenozoospermia. At this time, about 40 genes were associated with the MMAF phenotype. However, mutation prevalence for most genes remains individually low and about half of individuals remain without diagnosis, encouraging us to pursue the effort to identify new mutations and genes. In the present study, an a cohort of 167 MMAF patients was analyzed using whole-exome sequencing, and we identified three unrelated patients with new pathogenic mutations in DNHD1, a new gene recently associated with MMAF. Immunofluorescence experiments showed that DNHD1 was totally absent from sperm cells from DNHD1 patients, supporting the deleterious effect of the identified mutations. Transmission electron microscopy reveals severe flagellum abnormalities of sperm cells from one mutated patient, which appeared completely disorganized with the absence of the central pair and midpiece defects with a shortened and misshapen mitochondrial sheath. Immunostaining of IFT20 was not altered in mutated patients, suggesting that IFT may be not affected by DNHD1 mutations. Our data confirmed the importance of DNHD1 for the function and structural integrity of the sperm flagellum. Overall, this study definitively consolidated its involvement in MMAF phenotype on a second independent cohort and enriched the mutational spectrum of the DNHD1 gene.

| S-EPMC9916431 | biostudies-literature

Granulosa cell mevalonate pathway abnormalities contribute to oocyte meiotic defects and aneuploidy [Hi-C]

Project description:Granulosa cell mevalonate pathway abnormalities contribute to oocyte meiotic defects and aneuploidy [Hi-C]

| PRJNA857821 | ENA

Depletion of oocyte dynamin-related protein 1 shows maternal effect abnormalities in embryonic development

Project description:Depletion of oocyte dynamin-related protein 1 shows maternal effect abnormalities in embryonic development

| PRJNA748733 | ENA

Granulosa cell mevalonate pathway abnormalities contribute to oocyte meiotic defects and aneuploidy [RNA-seq mouse oocyte]

Project description:The mechanisms of oocyte meiotic defects and low competence during ovarian aging remains elusive for decades. Using Hi-C (genome-wide chromatin conformation capture) and Smart RNA-seq of oocytes from 6- weeks or 10- months aged ovaries, the abnormal loose chromatin structures and disturbing expression of meiosis associated genes at metaphase I phase were disclosed. Furthermore, the transcriptomic landscape of granulosa cells (GCs) surrounding oocytes from young and aged ovaries reveled that oocyte meiotic maturation was accompanied with a robust increased expression of genes involved with the mevalonate (MVA) pathway in GCs from young ovaries but these genes expression was not upregulated to counterpart level in GCs from aged ovaries.The inhibitor of MVA pathway of GCs, Statins significantly decreased polar body extrusion rate and increased the rate of irregularly assembled spindles and misaligned chromosomes remarkably in oocytes of culumus-oocyte complex (COCs) from young ovaries . Correspondingly, the activitor of MVA pathway of GCs, Geranylgeraniol ameliorated ovarian reserve and reduced meiotic defects in oocytes of COCs from aged ovaries. Mechanistically, MVA pathway activation in GCs culminated oocyte meiotic maturation by upregulating EGF signaling via LH receptor on GCs surrounding oocytes. Together, MVA pathway is a promising therapeutic target for prompting quality of oocytes from aged ovaries.

2023-02-26 | GSE175835 | GEO

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