Genomics  Tool to predict and prevent male infertility

Halder, Ashutosh; Kumar, Prashant; Jain, Manish; Kalsi, Amanpreet Kaur

doi:10.2741/s496

Cited by 15 publications

(14 citation statements)

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“…Sperm cryopreservation in Cryoprotective medium (12% trehalose dehydrate, 3% skim milk, 100 mM L-Glutamine) was performed in liquid nitrogen according to the protocol described by Takeo et al (14). Brie y, 100 μl of Cryoprotective medium was poured onto the epididymis, several incisions were made in the cauda epididymis and the plate was shacked and incubated at 37 °C for 10 min in order to release sperms into the medium.…”

Section: Sperm Cryopreservationmentioning

confidence: 99%

Epigenetic Events and Germ Line Transmission in Rag1 knock-out Chimeric Mice Produced by CRISPR/Cas9 Technology

Salimi

Mehravar

Shirazi

et al. 2021

Preprint

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Considering the effects of epigenetic changes on the embryonic development through altering the gene expression of pluripotency, trophectoderm, and imprinting genes, we determined the pattern of epigenetic alterations in transgenic embryos produced by injecting transgenic mESCs into the morula. To aim this, RAG1 knock-out mESCs were produced using CRISPR-Cas9 editing system and then microinjected into morulas to develop chimeric embryos. Afterward, the expression of pluripotency, trophectoderm genes, and imprinting genes in these embryos were evaluated using real-time PCR. Immunohistochemical analysis was carried out to determine the methylation rates of H3K9me3 and H3K4me3. In the following, since epigenetic alterations can be at least one of the possible reasons of male infertility and the loss of germ-line transmission capacity, the germ-line transmission ability in chimeric mice was also evaluated by breeding them and subsequent backcrosses to wild type strains. Our findings showed that the methylation rates of H3K4me3 and H3K9me3 were significantly lower and higher respectively in the RAG1 knock-out embryos compared others groups. Moreover, the chimeric embryos exhibited the decreased expression of NANOG, OCT4, CDX2, TEAD4, and H19 genes. Following the breeding of chimeric males with normal female mouse, 40% of chimeras had no germ-line transmission (GLT), and 60% were infertile.We showed that the manipulation of mESC by CRISPR-Cas9 approach remarkably changed the methylation status of H3K9me3 and H3K4me3, resulting in impaired development of embryos through dysregulation of genes involved embryonic development and then, may be one of the reasons of infertility and lack of GLT.

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Section: Sperm Cryopreservationmentioning

confidence: 99%

Epigenetic Events and Germ Line Transmission in Rag1 knock-out Chimeric Mice Produced by CRISPR/Cas9 Technology

Salimi

Mehravar

Shirazi

et al. 2021

Preprint

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“…The genetic mechanism of NOA remains unclear, and has recently become a focus for research in reproductive medicine [2]. Currently, the genetic causes of azoospermia are known to include chromosomal abnormalities, azoospermia factor (AZF) microdeletion of the Y chromosome, copy number variations (CNVs), and monogenic mitochondrial and epigenetic abnormalities [3]. Recently, associations between gene polymorphisms and male infertility have been identified [4][5][6][7].…”

Section: Introductionmentioning

confidence: 99%

Chloride Channel Accessory 4 (CLCA4) Gene Polymorphisms and Non-Obstructive Azoospermia: A Case-Control Study

Wang

Zhang

et al. 2019

Med Sci Monit

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BackgroundGenetic mechanisms are associated with male infertility, but the association with non-obstructive azoospermia (NOA) remains unclear. Mutations in the chloride channel accessory 4 (CLCA4) gene have been shown to have a role in male infertility. The aim of this study was to investigate the associations between single nucleotide polymorphisms (SNPs) of the CLCA4 gene and NOA in a Chinese Han population of Northeast China using combined targeted gene capture next-generation sequencing and bioinformatics analysis.Material/MethodsThe study group included 100 men with NOA, and there were 100 normal controls. Targeted gene capture next-generation sequencing was performed combined with bioinformatics analysis. Ten CLCA4 SNPs were screened in the cases of NOA and control subjects. The associations between SNPs and NOA were analyzed.ResultsSix SNPs, c.390C>T (rs190628533), c.1474A>G (rs2231599), c.2105C>G (rs757773924), c.2371A>T) (rs759981524), c.956G>A (rs763334876), and c.895T>C (rs79822589) were identified in the study group of cases in NOA but not in control subjects. All CLCA4 SNPs were in Hardy-Weinberg equilibrium. The allele and genotype frequencies of the six SNPs were not significantly different between the study group and the controls. Haplotype analysis showed the existence of two haplotypes, CTAGACTACG and CTCGACTACG, which showed statistical significance of 0.074, and 0.088 between cases of NOA and the controls, respectively.ConclusionsThere were no significant associations between CLCA4 SNPs and NOA in men in a Chinese Han population of Northeast China.

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“…Male infertility is common and in a considerable number of cases the underlying causes are not known 1 , 2 . In infertile men, impairments of spermatogenesis are typically paralleled by alterations of testicular morphology.…”

Section: Introductionmentioning

confidence: 99%

ATP-mediated Events in Peritubular Cells Contribute to Sterile Testicular Inflammation

Walenta

Fleck

Fröhlich

et al. 2018

Sci Rep

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Peritubular myoid cells, which form the walls of seminiferous tubules in the testis, are functionally unexplored. While they transport sperm and contribute to the spermatogonial stem cell niche, specifically their emerging role in the immune surveillance of the testis and in male infertility remains to be studied. Recently, cytokine production and activation of Toll-like receptors (TLRs) were uncovered in cultured peritubular cells. We now show that human peritubular cells express purinergic receptors P2RX4 and P2RX7, which are functionally linked to TLRs, with P2RX4 being the prevalent ATP-gated ion channel. Subsequent ATP treatment of cultured peritubular cells resulted in up-regulated (pro-)inflammatory cytokine expression and secretion, while characteristic peritubular proteins, that is smooth muscle cell markers and extracellular matrix molecules, decreased. These findings indicate that extracellular ATP may act as danger molecule on peritubular cells, able to promote inflammatory responses in the testicular environment.

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Genomics Tool to predict and prevent male infertility

Cited by 15 publications

References 0 publications

Epigenetic Events and Germ Line Transmission in Rag1 knock-out Chimeric Mice Produced by CRISPR/Cas9 Technology

Epigenetic Events and Germ Line Transmission in Rag1 knock-out Chimeric Mice Produced by CRISPR/Cas9 Technology

Chloride Channel Accessory 4 (CLCA4) Gene Polymorphisms and Non-Obstructive Azoospermia: A Case-Control Study

ATP-mediated Events in Peritubular Cells Contribute to Sterile Testicular Inflammation

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