Functional Analysis of Human Pathological Semen Samples in an Oocyte Cytoplasmic Ex Vivo System

Amargant, Farners; García, Désirée; Barragán, Montserrat; Vassena, Rita; Vernos, Isabelle

doi:10.1038/s41598-018-33468-x

Cited by 3 publications

(2 citation statements)

References 30 publications

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“…These results can also have an important impact in assisted reproduction technologies in which 30% of the fertilized oocytes arrest before compaction. We show here that centrosome dysfunction may not only be associated with sperm motility and morphology alterations (Amargant et al , 2018, Jumeau et al , 2017 but it could derive from an defective conversion into a fully functional centrosome in the zygote that could explain some of the unexpected early embryo arrests. Further studies using our novel tail-injection method are guaranteed to provide new strategies to address unexpected cases of human infertility.…”

Section: Discussionsupporting

confidence: 48%

The human sperm basal body is a complex centrosome important for embryo pre-implantation development

Amargant

Pujol

Ferrer-Vaquer³

et al. 2021

Preprint

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The mechanism of conversion of the human sperm basal body to a centrosome after fertilization, and its role in supporting human early embryogenesis has not been directly addressed so far. Using proteomics and immunofluorescence studies we show here that the human zygote inherits a basal body enriched with centrosomal proteins from the sperm, establishing the first functional centrosome of the new organism. Injection of human sperm tails containing the basal body into human oocytes followed by parthenogenetically activation, showed that the centrosome contributes to the robustness of the early cell divisions, increasing the probability of parthenotes reaching the compaction stage. In the absence of the sperm-derived centrosome, pericentriolar (PCM) components stored in the oocyte can form de novo structures after genome activation, suggesting a tight PCM expression control in zygotes. Our results reveal that the sperm basal body is a complex organelle which converts to a centrosome after fertilization, ensuring the early steps of embryogenesis and successful compaction. However, more experiments are needed to elucidate the exact molecular mechanisms of centrosome inheritance in humans.

show abstract

Section: Discussionsupporting

confidence: 48%

The human sperm basal body is a complex centrosome important for embryo pre-implantation development

Amargant

Pujol

Ferrer-Vaquer³

et al. 2021

Preprint

Self Cite

View full text Add to dashboard Cite

show abstract

“…These results may also have an important impact in ART in which 30% of the fertilized oocytes arrest before compaction. We show here that centrosome dysfunction may not only be associated with sperm motility and morphology alterations ( Jumeau et al , 2017 ; Amargant et al , 2018 ) but also it could derive from an defective conversion into a fully functional centrosome in the zygote that could explain some of the unexpected early embryo arrests. Further studies using our novel tail-injection method are likely to provide new strategies to address unexpected cases of human infertility.…”

Section: Discussionmentioning

confidence: 83%

The human sperm basal body is a complex centrosome important for embryo preimplantation development

Amargant

Pujol

Ferrer-Vaquer³

et al. 2021

Molecular Human Reproduction

Self Cite

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The mechanism of conversion of the human sperm basal body to a centrosome after fertilization, and its role in supporting human early embryogenesis, has not been directly addressed so far. Using proteomics and immunofluorescence studies we show here that the human zygote inherits a basal body enriched with centrosomal proteins from the sperm, establishing the first functional centrosome of the new organism. Injection of human sperm tails containing the basal body into human oocytes followed by parthenogenetic activation, showed that the centrosome contributes to the robustness of the early cell divisions, increasing the probability of parthenotes reaching the compaction stage. In the absence of the sperm-derived centrosome, pericentriolar (PCM) components stored in the oocyte can form de novo structures after genome activation, suggesting a tight PCM expression control in zygotes. Our results reveal that the sperm basal body is a complex organelle which converts to a centrosome after fertilization, ensuring the early steps of embryogenesis and successful compaction. However, more experiments are needed to elucidate the exact molecular mechanisms of centrosome inheritance in humans.

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Exonic genetic variants associated with unexpected fertilization failure and zygotic arrest after ICSI: a systematic review

Torra‐Massana¹,

Rodríguez²,

Vassena³

2023

Zygote

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Summary Fertilization failure (FF) and zygotic arrest after ICSI have a huge effect on both patients and clinicians, but both problems are usually unexpected and cannot be properly diagnosed. Fortunately, in recent years, gene sequencing has allowed the identification of multiple genetic variants underlying failed ICSI outcomes, but the use of this approach is still far from routine in the fertility clinic. In this systematic review, the genetic variants associated with FF, abnormal fertilization and/or zygotic arrest after ICSI are compiled and analyzed. Forty-seven studies were included. Data from 141 patients carrying 121 genetic variants affecting 16 genes were recorded and analyzed. In total, 27 variants in PLCZ1 (in 50 men) and 26 variants in WEE2 (in 24 women) are two of the factors related to oocyte activation failure that could explain a high percentage of male-related and female-related FF. Additional variants identified were reported in WBP2NL, ACTL9, ACTLA7, and DNAH17 (in men), and TUBB8, PATL2, TLE6, PADI6, TRIP13, BGT4, NLRP5, NLRP7, CDC20 and ZAR1 (in women). Most of these variants are pathogenic or potentially pathogenic (89/121, 72.9%), as demonstrated by experimental and/or in silico approaches. Most individuals carried bi-allelic variants (89/141, 63.1%), but pathogenic variants in heterozygosity have been identified for PLCZ1 and TUBB8. Clinical treatment options for affected individuals, such as chemical-assisted oocyte activation (AOA) or PLCZ1 cRNA injection in the oocyte, are still experimental. In conclusion, a genetic study of known pathogenic variants may help in diagnosing recurrent FF and zygotic arrest and guide patient counselling and future research perspectives.

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Functional Analysis of Human Pathological Semen Samples in an Oocyte Cytoplasmic Ex Vivo System

Cited by 3 publications

References 30 publications

The human sperm basal body is a complex centrosome important for embryo pre-implantation development

The human sperm basal body is a complex centrosome important for embryo pre-implantation development

The human sperm basal body is a complex centrosome important for embryo preimplantation development

Exonic genetic variants associated with unexpected fertilization failure and zygotic arrest after ICSI: a systematic review

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