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Reproductive Genetics and Epigenetics: Insights into Infertility Failures and Treatment Pathways

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 September 2025 | Viewed by 1156

Special Issue Editor


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Guest Editor
Department of Comparative and Experimental Medicine, Nagoya City University Graduate School of Medical Sciences, Nagoya 467-8601, Japan
Interests: laboratory animal science; reproductive genetics; reproductive development

Special Issue Information

Dear Colleagues,

Infertility affects millions of individuals and couples worldwide, with genetic and epigenetic factors playing critical roles in reproductive failures and treatment outcomes. This Special Issue focuses on cutting-edge research and reviews exploring the genetic and epigenetic mechanisms underlying infertility, providing a deeper understanding of how these factors influence reproductive health and the success of assisted reproductive technologies (ART). It underscores the roles of genetic and epigenetic factors in processes such as gametogenesis, fertilization, pregnancy, embryonic development, etc.

We welcome submissions on topics including genetic mutations, epigenetic modifications, inherited reproductive disorders, advances in ART, and epigenetic markers as diagnostic or therapeutic tools in fertility treatments. To bridge the gap between fundamental discoveries and clinical applications in reproductive medicine, this issue invites researchers to contribute original research, reviews, and case studies that explore the genetic and epigenetic underpinnings of infertility.

Dr. Hossam H. Shawki
Guest Editor

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Keywords

  • infertility
  • epigenetics
  • polymorphism
  • gametogenesis
  • fertilization
  • embryo development
  • reproductive organs
  • congenital malformations

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Published Papers (1 paper)

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Research

24 pages, 13153 KiB  
Article
Mating Increases CHST10 Activity in Rat Oviductal Mucosa to Induce the Synthesis of HNK-1 Glycoproteins: Possible Role in Sperm–Oviduct Interactions
by Francisca Fábrega-Guerén, Juan C. Andrade, Marlene Zúñiga-Cóndor, Patricio Morales, Benito Gómez-Silva and Lidia M. Zúñiga
Int. J. Mol. Sci. 2025, 26(7), 3309; https://doi.org/10.3390/ijms26073309 - 2 Apr 2025
Viewed by 287
Abstract
Previously, we reported that mating induces an early transcriptional response in the oviductal mucosa of rats. The functional category ‘cell-to-cell signaling and interaction’ was overrepresented in this gene list. Therefore, in the present study, we describe the role of one of these genes, [...] Read more.
Previously, we reported that mating induces an early transcriptional response in the oviductal mucosa of rats. The functional category ‘cell-to-cell signaling and interaction’ was overrepresented in this gene list. Therefore, in the present study, we describe the role of one of these genes, carbohydrate sulfotransferase 10 (Chst10), in the oviductal mucosa. CHST10 participates in the synthesis of the carbohydrate moiety human natural killer-1 (HNK-1), which mediates cell-to-cell interactions. When using one-dimensional Western blot and sulfotransferase analyses, we found that mating increased the protein level and activity of CHST10 in the oviductal mucosa at 3 h after stimulation. A two-dimensional Western blot analysis and mass spectrometry were used to identify the novel HNK-1 glycoproteins aldehyde dehydrogenase 9 family, member A1 (ALDH9A1), fructose bisphosphate aldolase A (ALDOA), and four and a half LIM domains protein 1 (FHL1) in the oviductal mucosa, and we found that mating induces the synthesis of their acidic variants. Interestingly, in the utero-tubal junction (UTJ), acrosome-reacted sperm apparently were interacting with regions in which ALDH9A1 and HNK-1 signals overlap. Furthermore, vaginocervical stimulation applied to unmated rats increased the mRNA level of Chst10 in the oviductal mucosa. In conclusion, mating increases the activity of CHST10 in the oviductal mucosa, which in turn induces the synthesis of acidic variants of ALDH9A1 and FHL1 via HNK-1 glycosylation. ALDH9A1, HNK-1-ALDH9A1, and/or other HNK-1 glycoproteins could participate in the negative selection of sperm in the UTJ, since we detected acrosome-reacted sperm apparently interacting with regions where these proteins are located. Finally, the sensorial component of mating could regulate early events (e.g., sperm transport and selection) occurring in the oviductal mucosa after mating. Full article
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