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Genetic and Epigenetic Regulation of Reproduction
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Genetic and Epigenetic Regulation of Reproduction

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: 20 December 2024 | Viewed by 2745

Special Issue Editors

Dr. Dorota Juchno

E-Mail Website
Guest Editor
Department of Zoology, Faculty of Biology and Biotechnology, University of Warmia and Mazury in Olsztyn, 10-719 Olsztyn, Poland
Interests: reproduction; gametogenesis; development; polyploidy; gynogenesis; hybridization; gene expression
Dr. Olga Jablonska

E-Mail Website
Guest Editor
Department of Zoology, Faculty of Biology and Biotechnology, University of Warmia and Mazury in Olsztyn, 10-719 Olsztyn, Poland
Interests: reproduction; gene expression; programmed cell death; polyploidization; flow cytometry

Special Issue Information

Dear Colleagues,

Reproduction is fundamental to the continuity of life. Reproductive processes are regulated at both genetic and epigenetic levels. Numerous studies have contributed to our knowledge of the molecular mechanisms underlying the genetic and epigenetic aspects of both natural and assisted/controlled reproduction. The definition of epigenetics refers to heritable changes in gene function and, thus, phenotypes that are not caused by genetic changes. Unlike the genome, the epigenome is highly dynamic and is able to modulate genome function under the influence of exogenous factors. This Special Issue endeavors to underscore the pivotal roles played by genetic and epigenetic factors in processes such as gametogenesis, fertilization, and embryonic development, as well as the genetics of infertility. We invite original research as well as review manuscripts discussing gene expression regulation, DNA methylation, histone modifications, and non-coding RNA involvement in reproductive events. Join us in disseminating groundbreaking discoveries and fostering a comprehensive discourse on the latest advancements in reproductive biology.

Dr. Dorota Juchno
Dr. Olga Jablonska
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • gene expression
  • gene mapping
  • germ cells
  • epigenetic factors
  • DNA methylation
  • histone modification
  • fertility
  • molecular diagnostics
  • next generation sequencing
  • prenatal diagnosis

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Published Papers (3 papers)

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Research

17 pages, 2831 KiB  
Article
Connections between Endometrial Health Status, Fatty Liver and Expression of Endocannabinoid System Genes in Endometrium of Postpartum Dairy Cows
by Zuzanna Polak, Milena Krupa, Joanna Sadowska, Paweł Brym, Maciej Ślebioda, Andrzej Jurczak, Dominika Grzybowska and Dawid Tobolski
Int. J. Mol. Sci. 2024, 25(17), 9187; https://doi.org/10.3390/ijms25179187 - 24 Aug 2024
Viewed by 568
Abstract
The endocannabinoid system (ECS) plays a crucial role in reproductive health, but its function in postpartum dairy cows remains poorly understood. This study investigated the expression patterns of ECS-related genes in the endometrium of postpartum dairy cows and their associations with endometrial health [...] Read more.
The endocannabinoid system (ECS) plays a crucial role in reproductive health, but its function in postpartum dairy cows remains poorly understood. This study investigated the expression patterns of ECS-related genes in the endometrium of postpartum dairy cows and their associations with endometrial health and the presence of fatty liver. Endometrial biopsies were collected from 22 Holstein Friesian cows at 4 and 7 weeks postpartum. Gene expression was analyzed using RT-qPCR, focusing on key ECS components including CNR2, MGLL, FAAH1, NAAA, NAPEPLD, PADI4 and PTGDS. The results reveal dynamic changes in ECS gene expression associated with endometritis and fatty liver. MGLL expression was significantly upregulated in cows with endometritis at 7 weeks postpartum, while NAAA expression was consistently downregulated in cows with fatty liver. CNR2 showed a time-dependent pattern in endometritis, and PTGDS expression was elevated in clinical endometritis at 4 weeks postpartum. The presence of fatty liver was associated with altered expression patterns of several ECS genes, suggesting a link between metabolic stress and endometrial ECS function. These findings indicate a potential role for the ECS in postpartum uterine health and recovery, offering new insights into the molecular mechanisms underlying reproductive disorders in dairy cows and paving the way for novel therapeutic approaches. Full article
(This article belongs to the Special Issue Genetic and Epigenetic Regulation of Reproduction)
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19 pages, 1594 KiB  
Article
Transcriptomic Analysis of Vitrified–Warmed vs. Fresh Mouse Blastocysts: Cryo-Induced Physiological Mechanisms and Implantation Impact
by Chi-Ying Lee, Han-Ni Tsai, En-Hui Cheng, Tsung-Hsien Lee, Pin-Yao Lin, Maw-Sheng Lee and Chun-I Lee
Int. J. Mol. Sci. 2024, 25(16), 8658; https://doi.org/10.3390/ijms25168658 - 8 Aug 2024
Viewed by 740
Abstract
Blastocyst vitrification has significantly improved embryo transfer methods, leading to higher implantation success rates and better pregnancy outcomes in subsequent frozen embryo transfer cycles. This study aimed to simulate the transcriptional changes caused by vitrifying human blastocysts using mouse blastocysts as a model [...] Read more.
Blastocyst vitrification has significantly improved embryo transfer methods, leading to higher implantation success rates and better pregnancy outcomes in subsequent frozen embryo transfer cycles. This study aimed to simulate the transcriptional changes caused by vitrifying human blastocysts using mouse blastocysts as a model and to further investigate these changes’ effects. Utilizing a human vitrification protocol, we implanted both vitrified and fresh embryos into mice. We observed the implantation success rates and performed transcriptomic analysis on the blastocysts. To validate the results from messenger RNA sequencing, we conducted reverse transcriptase-quantitative polymerase chain reaction (RT-qPCR) to measure the expression levels of specific genes. Based on mRNA profiling, we predicted the microRNAs responsible for the regulation and used qPCR basic microRNA assays for validation. Our observations revealed a higher implantation success rate for vitrified embryos than fresh embryos. Transcriptomic analysis showed that vitrified–warmed blastocysts exhibited differentially expressed genes (DEGs) primarily associated with thermogenesis, chemical carcinogenesis-reactive oxygen species, oxidative phosphorylation, immune response, and MAPK-related signaling pathways. RT-qPCR confirmed increased expression of genes such as Cdk6 and Nfat2, and decreased expression of genes such as Dkk3 and Mapk10. Additionally, gene-microRNA interaction predictions and microRNA expression analysis identified twelve microRNAs with expression patterns consistent with the predicted results, suggesting potential roles in uterine epithelial cell adhesion, trophectoderm development, invasive capacity, and immune responses. Our findings suggest that vitrification induces transcriptomic changes in mouse blastocysts, and even small changes in gene expression can enhance implantation success. These results highlight the importance of understanding the molecular mechanisms underlying vitrification to optimize embryo transfer techniques and improve pregnancy outcomes. Full article
(This article belongs to the Special Issue Genetic and Epigenetic Regulation of Reproduction)
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15 pages, 2396 KiB  
Article
Endometrial Proliferative Phase-Centered View of Transcriptome Dynamics across the Menstrual Cycle
by Apostol Apostolov, Mladen Naydenov, Aive Kalinina, Maria Nikolova, Merli Saare, Elina Aleksejeva, Nadezhda Milova, Antoan Milov, Andres Salumets, Vesselin Baev and Galina Yahubyan
Int. J. Mol. Sci. 2024, 25(10), 5320; https://doi.org/10.3390/ijms25105320 - 13 May 2024
Viewed by 991
Abstract
The endometrium, the inner mucosal lining of the uterus, undergoes complex molecular and cellular changes across the menstrual cycle in preparation for embryo implantation. Transcriptome-wide analyses have mainly been utilized to study endometrial receptivity, the prerequisite for successful implantation, with most studies, so [...] Read more.
The endometrium, the inner mucosal lining of the uterus, undergoes complex molecular and cellular changes across the menstrual cycle in preparation for embryo implantation. Transcriptome-wide analyses have mainly been utilized to study endometrial receptivity, the prerequisite for successful implantation, with most studies, so far, comparing the endometrial transcriptomes between (i) secretory and proliferative endometrium or (ii) mid-secretory and early secretory endometrium. In the current study, we provide a complete transcriptome description of the endometrium across the entire menstrual cycle and, for the first time, comprehensively characterize the proliferative phase of the endometrium. Our temporal transcriptome analysis includes five time points including the mid-proliferative, late proliferative (peri-ovulatory phase), early secretory, mid-secretory, and late secretory phases. Thus, we unveil exhaustively the transitions between the consecutive proliferative and secretory phases, highlighting their unique gene expression profiles and possible distinct biological functions. The transcriptome analysis reveals many differentially expressed genes (DEGs) across the menstrual cycle, most of which are phase-specific. As an example of coordinated gene activity, the expression profile of histone-encoding genes within the HIST cluster on chromosome 6 shows an increase in cluster activity during the late proliferative and a decline during the mid-secretory phase. Moreover, numerous DEGs are shared among all phases. In conclusion, in the current study, we delineate the endometrial proliferative phase-centered view of transcriptome dynamics across the menstrual cycle. Our data analysis highlights significant transcriptomic and functional changes occurring during the late proliferative phase—an essential transition point from the proliferative phase to the secretory phase. Future studies should explore how the biology of the late proliferative phase endometrium impacts the achievement of mid-secretory endometrial receptivity or contributes to molecular aberrations leading to embryo implantation failure. Full article
(This article belongs to the Special Issue Genetic and Epigenetic Regulation of Reproduction)
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