Review
Cell Biology
Courtney W. Hanna, Gavin Kelsey
Summary: Genomic imprinting refers to the monoallelic expression of a gene based on parent of origin, which is a result of differential epigenetic marking between male and female germlines. Apart from the canonical DNA methylation-mediated imprinting, there is also non-canonical imprinting caused by maternal H3K27me3-independent of DNA methylation. Conservation of canonical and noncanonical genomic imprinting and the role of endogenous retroviral elements are discussed in this review.
GENES & DEVELOPMENT
(2021)
Review
Cell Biology
Hisato Kobayashi
Summary: Genomic imprinting is an epigenetic phenomenon that leads to unequal expression of homologous maternal and paternal alleles in the mouse genome. More than 260 imprinted genes have been identified, most of which are controlled by imprinted germline differentially methylated regions, while a subset of genes are controlled by maternal-derived histone modifications. Understanding DNA methylation-dependent and -independent imprints may provide new insights into genetic regulation and evolutionary divergence.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Review
Cell Biology
Hisato Kobayashi
Summary: Genomic imprinting is an epigenetic phenomenon that results in unequal expression of homologous maternal and paternal alleles. This process can maintain parental epigenetic memories following fertilization and induce allele-specific transcription and chromatin modifications of neighboring genes.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Multidisciplinary Sciences
Zhenhui Zhong, Suhua Feng, Sascha H. Duttke, Magdalena E. Potok, Yiwei Zhang, Javier Gallego-Bartolom, Wanlu Liu, Steven E. Jacobsen
Summary: DNA methylation influences chromatin accessibility, particularly in heterochromatin, in plants. Different sequence contexts of DNA methylation interact with each other, and methylation can impact chromatin structure through mechanisms other than transcription. Increased chromatin accessibility is associated with enhanced long-range chromatin interactions.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Review
Biochemistry & Molecular Biology
Ryszard Olinski, Geir Slupphaug, Marek Foksinski, Hans Einar Krokan
Summary: The DNA of living cells undergoes continuous structural and chemical changes due to fundamental cellular metabolic processes and reactions with normal cellular metabolites. These modifications include enzymatically oxidized bases, aberrantly methylated bases, deaminated bases, and uracil generated from deaminated cytosine. These alterations can impact base-pairing properties, leading to replicative and transcriptional mutagenesis.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Genetics & Heredity
Rujuan Dai, Zhuang Wang, S. Ansar Ahmed
Summary: Systemic lupus erythematosus (SLE) is a complex autoimmune disease affecting multiple organs, with DNA methylation and miRNAs playing key roles in its pathogenesis. The interaction between DNA methylation and miRNAs regulation impacts the expression of lupus-related miRNAs and DNA methylation status.
Article
Cell Biology
Shaili Regmi, Lana Giha, Ahado Ali, Christine Siebels-Lindquist, Tamara L. L. Davis
Summary: Differential methylation of imprinting control regions is essential for parental allele distinction and regulation of gene expression. DNA methyltransferase 1 plays a crucial role in maintaining the inherited methylation patterns, but little is known about how imprinting control regions direct the acquisition and maintenance of methylation at secondary sites. Recent analysis suggests that DNA methyltransferase 1 may function differently at different loci, and our study shows that it specifically maintains methylation at imprinting control regions but not at corresponding secondary differentially methylated regions.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Constance E. Clare, Valerie Pestinger, Wing Yee Kwong, Desmond A. R. Tutt, Juan Xu, Helen M. Byrne, David A. Barrett, Richard D. Emes, Kevin D. Sinclair
Summary: Transcripts for almost all genes encoding enzymes in the linked methionine-folate cycles were found to be expressed in ovarian and embryonic cells across different species, except for BHMT and MAT1A. Absence of the enzyme BHMT in bovine cells was shown to lead to more volatile transmethylation reactions in response to 1C substrates. Reduction in methionine concentration during bovine embryo culture was found to have genome-wide effects on DNA methylation, particularly affecting imprinted genes associated with abnormal fetal growth. Further research is needed to determine the importance of interspecies variation in BHMT expression.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Plant Sciences
Hikaru Sato, Claudia Koehler
Summary: Seed dormancy is an important adaptive trait that allows plant seeds to germinate at the right environmental conditions for survival. The endosperm, a reproductive tissue formed after fertilization, plays a crucial role in establishing seed dormancy. Recent studies have shown that imprinted genes are involved in this process, revealing a new mechanism of parental control over this adaptive trait.
CURRENT OPINION IN PLANT BIOLOGY
(2022)
Review
Genetics & Heredity
Zahra Anvar, Imen Chakchouk, Hannah Demond, Momal Sharif, Gavin Kelsey, Ignatia B. Van den Veyver
Summary: Genomic imprinting is an epigenetic process affecting development, with multi-locus imprinting disturbances possibly leading to disorders. Pathogenic gene variants can cause rare embryonic and reproductive issues.
Article
Public, Environmental & Occupational Health
Ying Tang, Hong Gan, Baolin Wang, Xiaorui Wang, Mengdie Li, Qianhui Yang, Menglong Geng, Peng Zhu, Shanshan Shao, Fangbiao Tao
Summary: The study found that DNA methylation plays a significant role in the relationship between difficulty falling asleep and female infertility, providing insights into the underlying mechanisms. Further research is needed to fully understand the biological significance and potential therapeutic applications of these findings.
Article
Biochemistry & Molecular Biology
Jordana S. Lopes, Elena Ivanova, Salvador Ruiz, Simon Andrews, Gavin Kelsey, Pilar Coy
Summary: Controlled ovarian stimulation is necessary in assisted reproductive procedures, but it may have consequences on gametes and offspring. In this study using the bovine model, DNA methylation profiles of oocytes from unstimulated and stimulated follicles were compared. The results showed differences in methylation levels of imprinted genes between the two groups, which may contribute to understanding syndromes in assisted reproductive technologies-derived offspring.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Oncology
Weiwei Xie, Huizhen Sun, Xiaoduan Li, Feikai Lin, Ziliang Wang, Xipeng Wang
Summary: Ovarian cancer is associated with activation of oncogenes and inactivation of tumor suppressor genes, with epigenetic processes playing a key role in tumorigenesis. MicroRNA and long non-coding RNA are promising molecular markers for precision medicine in OC. Clinical application of epigenetic approaches is currently limited by hurdles such as heterogeneity of OC and insufficient sample sizes, but holds promise for future clinical investigation into diagnosis, treatment, and prognosis.
CANCER CELL INTERNATIONAL
(2021)
Review
Genetics & Heredity
Nicole Robles-Matos, Tre Artis, Rebecca A. Simmons, Marisa S. Bartolomei
Summary: Genomic imprinting is an important epigenetic mechanism for mammalian development, and environmental insults may alter DNA methylation patterns leading to increased disease risk.
Article
Obstetrics & Gynecology
Kristina W. Olsen, Juan Castillo-Fernandez, Andrew Cho Chan, Nina la Cour Freiesleben, Anne Zedeler, Mona Bungum, Alexia Cardona, John R. B. Perry, Sven O. Skouby, Eva R. Hoffmann, Gavin Kelsey, Marie Louise Grondahl
Summary: Epigenetic profiles of mural granulosa cells (MGC) from women with diminished ovarian reserve (DOR) show differential methylation variability compared to those with normal ovarian reserve, with enrichment in regions marked with the repressive histone modification H3K27me3 and involvement of genes related to folliculogenesis. Leukocytes did not show significant differences in epigenetic profiles based on ovarian reserve status. A higher number of epimutations in MGC from women with DOR suggest premature aging in ovarian follicle cells.
FERTILITY AND STERILITY
(2021)
Article
Obstetrics & Gynecology
J. Barberet, C. Binquet, M. Guilleman, A. Doukani, C. Choux, C. Bruno, A. Bourredjem, C. Chapusot, D. Bourc'his, Y. Duffourd, P. Fauque
Summary: This study compared the epigenetic profiles of children conceived through ART and naturally conceived children, finding significant differences in DNA methylation levels of IGs between the two groups. While there were no differences found in the culture media, specific IG regions related to development showed methylation changes between children conceived through ART and naturally conceived children.
HUMAN REPRODUCTION
(2021)
Article
Genetics & Heredity
Celine Bruno, Abderrahmane Bourredjem, Fatima Barry, Jean Frappier, Aurelie Martinaud, Bruno Chamoy, Isabelle Hance, Perrine Ginod, Mathilde Cavalieri, Celine Amblot, Christine Binquet, Julie Barberet, Patricia Fauque
Summary: This study examined the effects of male and female factors on embryo development using two original designs. The results showed significant similarities related to female components, but lower similarities related to male factors. Furthermore, while no specific female factors were identified, oligozoospermia was associated with longer timings in the TL-DO design.
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
(2022)
Article
Biology
Hala Al Adhami, Anais Flore Bardet, Michael Dumas, Elouan Cleroux, Sylvain Guibert, Patricia Fauque, Herve Acloque, Michael Weber
Summary: This study investigates the distribution and function of DNA methylation in different vertebrate species, revealing both conservation and divergence in methylation patterns and functions. The study shows that the chicken genome has lower levels of methylation compared to other species and other species exhibit a higher frequency of CpG-rich DNA methylation compared to mice. The study also demonstrates the conservation of DNA methylation in silencing germline genes and endogenous retroviruses in vertebrates.
Review
Obstetrics & Gynecology
Julie Barberet, Bastien Ducreux, Magali Guilleman, Emmanuel Simon, Celine Bruno, Patricia Fauque
Summary: ART procedures might influence DNA methylation in fetus and placenta, potentially leading to increased risks of adverse outcomes associated with ART. Despite the growing body of literature on this topic, the conclusions from existing studies remain inconsistent, and the safety of ART at the epigenetic level is still uncertain.
HUMAN REPRODUCTION UPDATE
(2022)
Article
Developmental Biology
Jean Frappier, Aurelie Martinaud, Julie Barberet, Celine Bruno, Magali Guilleman, Celine Amblot, Adrien Guilloteau, Patricia Fauque
Summary: This study assessed the impact of paternal smoking on embryo development in couples undergoing IVF and found that tobacco smoking did not have a major impact on clinical outcomes, although some differences were observed in the timing of embryonic events.
REPRODUCTION FERTILITY AND DEVELOPMENT
(2022)
Article
Obstetrics & Gynecology
Marie-Josee Gervoise-Boyer, Patricia Fauque, Jacques De Mouzon, Aviva Devaux, Sylvie Epelboin, Rachel Levy, Morgane Valentin, Geraldine Viot, Justine Bonomini, Marianne Bergere, Philippe Jonveaux, Fabienne Pessione
Summary: This study investigated the risk factors for prematurity other than intrauterine growth restriction in singletons after IVF. The results showed that endometriosis and vanishing twin increased the risk of prematurity after fresh embryo transfer, while polycystic ovaries or more than 20 oocytes retrieved also increased the risk of preterm birth.
REPRODUCTIVE BIOMEDICINE ONLINE
(2023)
Article
Obstetrics & Gynecology
Nathalie Sermondade, Laetitia Hesters, Jacques De Mouzon, Aviva Devaux, Sylvie Epelboin, Patricia Fauque, Marie-Jose Gervoise-Boyer, Julie Labrosse, Geraldine Viot, Marianne Berg, Claire Devienne, Philippe Jonveaux, Rachel Levy, Fabienne Pessione
Summary: Research question: This retrospective nationwide cohort study aimed to investigate the role of maternal context and medically assisted reproduction (MAR) techniques in the risk of fetal growth disorders. Design: Data from the French National Health System database were used from 2013 to 2017. Fetal growth disorders were categorized into four groups based on pregnancy origin: fresh embryo transfer, frozen embryo transfer (FET), intrauterine insemination (IUI), and natural conceptions. Results: The analysis showed that compared to natural conceptions, the risk of small for gestational age (SGA) was higher for births following fresh embryo transfer and IUI.
REPRODUCTIVE BIOMEDICINE ONLINE
(2023)
Article
Reproductive Biology
Julie Barberet, Bastien Ducreux, Celine Bruno, Magali Guilleman, Raymond Simonot, Nicolas Lieury, Adrien Guilloteau, Deborah Bourc'his, Patricia Fauque
Summary: This study evaluated the efficiency of a semi-automated technique of oocyte vitrification and compared it with a manual method. The results showed comparable outcomes in terms of survival rate, morphometric assessment, and resistance to empty micro-injection between the two techniques. The transcriptomic consequences of the two methods also had limited differences, suggesting that the influence of vitrification technique itself may not be significant.
JOURNAL OF OVARIAN RESEARCH
(2022)
Editorial Material
Medicine, General & Internal
Bastien Ducreux, Patricia Fauque
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Endocrinology & Metabolism
Sylvie Epelboin, Julie Labrosse, Jacques De Mouzon, Aviva Devaux, Marie-Jose Gervoise-Boyer, Laetitia Hesters, Philippe Jonveaux, Rachel Levy, Nathalie Sermondade, Patricia Fauque, Fabienne Pessione
Summary: This nationwide cohort study in France found that ovulatory cycle frozen embryo transfer (OC-FET) can reduce the risk of gestational hypertension and other vascular disorders in pregnant women compared to artificial cycle frozen embryo transfer (AC-FET) and fresh embryo transfer (fresh-ET). This suggests that OC-FET can serve as a protective factor for preventing maternal vascular pathologies.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Obstetrics & Gynecology
Bastien Ducreux, Catherine Patrat, Jacquetta Trasler, Patricia Fauque
Summary: This article focuses on the transcriptomic changes in human oocytes caused by specific interventions in ART and intrinsic factors such as age, reproductive health issues, and lifestyle. The results show that ART success is influenced by external factors, maternal aging, lifestyle factors, and infertility related to endometriosis or polycystic ovary syndrome. Different ART techniques also have an impact on oocyte transcriptomes. The dysregulation of epigenetic regulators may be a common mechanism linked to adverse oocyte environments.
HUMAN REPRODUCTION UPDATE
(2023)
Article
Cell Biology
Bastien Ducreux, Julie Barberet, Magali Guilleman, Raquel Perez-Palacios, Aurelie Teissandier, Deborah Bourc'his, Patricia Fauque
Summary: The choice of embryo culture medium in assisted reproductive technologies is crucial for successful pregnancy rates and the health of future children. This study investigated the impact of different commercially available culture media on gene expression in human pre-implantation embryos. The findings revealed medium-specific differences in gene expression changes, but these differences were reduced at the blastocyst stage.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2023)
Review
Medicine, General & Internal
Romualdo Sciorio, Claudio Manna, Patricia Fauque, Paolo Rinaudo
Summary: Since the birth of Louise Brown in 1978, over nine million children have been conceived using assisted reproductive technologies (ARTs). The potential epigenetic consequences of gametes and embryo manipulation during the preimplantation period have raised concerns. This review examines the evidence on oocytes and embryo cryopreservation and their potential impact on epigenetic regulation. Overall, the stress induced by vitrification procedures may lead to epigenetic and transcriptomic changes in oocytes and embryos, but it is unclear whether these changes will affect the health of future offspring.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Obstetrics & Gynecology
L. Bujan, N. Nouri, A. Papaxanthos-Roche, B. Ducrocq, F. Brugnon, C. Ravel, N. Rives, M. Teletin, V Drouineaud, B. Delepine, I Berthaut, C. Metzler-Guillemain, A. Devaux, C. Frapsauce, E. Thibault, O. Blagosklonov, M. A. Clarotti, C. Diligent, V Loup Cabaniols, P. Fauque, M. Benchaib, F. Eustache, M. Daudin
Summary: There are moderate differences between non-parent and parent candidates in terms of motivations for gamete donation and personality characteristics.
HUMAN REPRODUCTION OPEN
(2022)
Article
Obstetrics & Gynecology
Julie Barberet, Christine Binquet, Magali Guilleman, Gaelle Romain, Celine Bruno, Aurelie Martinaud, Perrine Ginod, Mathilde Cavalieri, Celine Amblot, Cecile Choux, Patricia Fauque
Summary: The study found differences in DNA methylation levels and gene expression in the placenta and cord blood between natural conception and after IUI, indicating that infertility itself may contribute to potential epigenetic risks for children.
REPRODUCTIVE BIOMEDICINE ONLINE
(2022)
