Genetics of Oocyte Maturation Defects and Early Embryo Development Arrest

Соловова, О. А.; Chernykh, Vyacheslav Borisovich

doi:10.3390/genes13111920

Cited by 15 publications

(6 citation statements)

References 126 publications

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“…Previous studies have reported several genes associated with the pathogenesis of oocyte maturation arrest (TUBB8, PATL2) and fertilization failures (TLE6, WEE2). [56]. In this study, seven polymorphisms were selected from four hormone-related genes (FSHR rs6165, INHA rs11893842 and rs35118453, ESR1 rs9340799 and rs2234693, BMP15 rs1700321, and rs3810682), and the association between RIF occurrence and polymorphisms was analyzed.…”

Section: Discussionmentioning

confidence: 99%

Association of Polymorphisms in FSHR, INHA, ESR1, and BMP15 with Recurrent Implantation Failure

Shin

Lee

et al. 2023

Biomedicines

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Recurrent implantation failure (RIF) refers to two or more unsuccessful in vitro fertilization embryo transfers in the same individual. Embryonic characteristics, immunological factors, and coagulation factors are known to be the causes of RIF. Genetic factors have also been reported to be involved in the occurrence of RIF, and some single nucleotide polymorphisms (SNPs) may contribute to RIF. We examined SNPs in FSHR, INHA, ESR1, and BMP15, which have been associated with primary ovarian failure. A cohort of 133 RIF patients and 317 healthy controls consisting of all Korean women was included. Genotyping was performed by Taq-Man genotyping assays to determine the frequency of the following polymorphisms: FSHR rs6165, INHA rs11893842 and rs35118453, ESR1 rs9340799 and rs2234693, and BMP15 rs17003221 and rs3810682. The differences in these SNPs were compared between the patient and control groups. Our results demonstrate a decreased prevalence of RIF in subjects with the FSHR rs6165 A>G polymorphism [AA vs. AG adjusted odds ratio (AOR) = 0.432; confidence interval (CI) = 0.206–0.908; p = 0.027, AA+AG vs. GG AOR = 0.434; CI = 0.213–0.885; p = 0.022]. Based on a genotype combination analysis, the GG/AA (FSHR rs6165/ESR1 rs9340799: OR = 0.250; CI = 0.072–0.874; p = 0.030) and GG-CC (FSHR rs6165/BMP15 rs3810682: OR = 0.466; CI = 0.220–0.987; p = 0.046) alleles were also associated with a decreased RIF risk. Additionally, the FSHR rs6165GG and BMP15 rs17003221TT+TC genotype combination was associated with a decreased RIF risk (OR = 0.430; CI = 0.210–0.877; p = 0.020) and increased FSH levels, as assessed by an analysis of variance. The FSHR rs6165 polymorphism and genotype combinations are significantly associated with RIF development in Korean women.

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Section: Discussionmentioning

confidence: 99%

Association of Polymorphisms in FSHR, INHA, ESR1, and BMP15 with Recurrent Implantation Failure

Shin

Lee

et al. 2023

Biomedicines

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“…Besides these conventional epigenetic modifications, chromatin architecture and the RNA m 6 A modification are recently founded to be dynamically regulated during MZT 27,28 . In addition, epigenetic reprogramming defects can cause developmental defects and reproductive problems 29–33 . Deciphering how and why this process occurs during early embryogenesis is crucial for addressing reproduction problems.…”

Section: Introductionmentioning

confidence: 99%

“… 27 , 28 In addition, epigenetic reprogramming defects can cause developmental defects and reproductive problems. 29 , 30 , 31 , 32 , 33 Deciphering how and why this process occurs during early embryogenesis is crucial for addressing reproduction problems. However, constrained by scarcity of mammalian early embryos and technical limitations, global reprogramming of the epigenetic landscape during MZT and precise regulatory network of this complex process remain enigmatic for a long time.…”

Section: Introductionmentioning

confidence: 99%

Epigenetic reprogramming during the maternal‐to‐zygotic transition

Chen

Wang

Guo

et al. 2023

MedComm

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After fertilization, sperm and oocyte fused and gave rise to a zygote which is the beginning of a new life. Then the embryonic development is monitored and regulated precisely from the transition of oocyte to the embryo at the early stage of embryogenesis, and this process is termed maternal‐to‐zygotic transition (MZT). MZT involves two major events that are maternal components degradation and zygotic genome activation. The epigenetic reprogramming plays crucial roles in regulating the process of MZT and supervising the normal development of early development of embryos. In recent years, benefited from the rapid development of low‐input epigenome profiling technologies, new epigenetic modifications are found to be reprogrammed dramatically and may play different roles during MZT whose dysregulation will cause an abnormal development of embryos even abortion at various stages. In this review, we summarized and discussed the important novel findings on epigenetic reprogramming and the underlying molecular mechanisms regulating MZT in mammalian embryos. Our work provided comprehensive and detailed references for the in deep understanding of epigenetic regulatory network in this key biological process and also shed light on the critical roles for epigenetic reprogramming on embryonic failure during artificial reproductive technology and nature fertilization.

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“…Oocyte maturation is closely related to early embryonic development. Failure of oocyte maturation will seriously affect both female reproductive health and fertility [ 1 ]. Increasing studies have shown that abnormal oocyte maturation leads to fertilization failure, embryo development retardation, and embryo death before implantation [ 2 ].…”

Section: Introductionmentioning

confidence: 99%

Knockdown of KDM5B Leads to DNA Damage and Cell Cycle Arrest in Granulosa Cells via MTF1

Yang

Cai

Guo

et al. 2023

CIMB

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KDM5B is essential for early embryo development, which is under the control of maternal factors in oocytes. Granulosa cells (GCs) play a critical role during oocyte mature. However, the role of KDM5B in GCs remains to be elucidated. In the current study, we found that KDM5B expressed highly in the ovaries and located in goat GCs. Using an RNA sequence, we identified 1353 differentially expressed genes in the KDM5B knockdown GCs, which were mainly enriched in cell cycle, cell division, DNA replication and the cellular oxidative phosphorylation regulation pathway. Moreover, we reported a decrease in the percentage of proliferated cells but an increase in the percentage of apoptotic cells in the KDM5B knockdown GCs. In addition, in the KDM5B knockdown GCs, the percentage of GCs blocked at the S phase was increased compared to the NC group, suggesting a critical role of KDM5B in the cell cycle. Moreover, in the KDM5B knockdown GCs, the reactive oxygen species level, the mitochondrial depolarization ratio, and the expression of intracellular phosphorylated histone H2AX (γH2AX) increased, suggesting that knockdown of KDM5B leads to DNA damage, primarily in the form of DNA double-strand breaks (DSBs). Interestingly, we found a down-regulation of MTF1 in the KDM5B knockdown GCs, and the level of cell proliferation, as well as the cell cycle block in the S phase, was improved. In contrast, in the group with both KDM5B knockdown and MTF1 overexpression, the level of ROS, the expression of γH2AX and the number of DNA DSB sites decreased. Taken together, our results suggest that KDM5B inhibits DNA damage and promotes the cell cycle in GCs, which might occur through the up-regulation of MTF1.

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Genetics of Oocyte Maturation Defects and Early Embryo Development Arrest

Cited by 15 publications

References 126 publications

Association of Polymorphisms in FSHR, INHA, ESR1, and BMP15 with Recurrent Implantation Failure

Association of Polymorphisms in FSHR, INHA, ESR1, and BMP15 with Recurrent Implantation Failure

Epigenetic reprogramming during the maternal‐to‐zygotic transition

Knockdown of KDM5B Leads to DNA Damage and Cell Cycle Arrest in Granulosa Cells via MTF1

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