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Gene Regulatory and Signaling Pathways in Palatogenesis

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

Deadline for manuscript submissions: closed (30 April 2025) | Viewed by 2956

Special Issue Editor


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Guest Editor
Department of Anatomy, College of Medicine, Soonchunhyang University, Cheonan 33151, Republic of Korea
Interests: palate; maxillofacial; palatogenesis; hearing; ear

Special Issue Information

Dear Colleagues,

Cleft lip and palate are among the most prevalent congenital craniofacial abnormalities, affecting approximately 17 out of 10,000 live births in the United States. These conditions significantly impact vital functions, such as breathing, speaking, chewing, and respiration.  Craniofacial development involves a complex series of tightly co-ordinated events, including morphogenesis, cell differentiation, and intricate molecular signaling pathways. The dysregulation of any one of these critical processes can result in cleft lip and palate, which have multiple causes rooted in the interplay among genetic, epigenetic, and environmental factors. Recent advances in both human and mouse genetics have led to the identification of numerous genes implicated in the formation of cleft lip and palate. This expanding knowledge base has provided valuable insights into the genetic underpinnings of these conditions. In addition to genetic influences, epigenetic mechanisms are increasingly recognized as important factors in the development of cleft lip and palate. These include processes such as DNA methylation and histone modifications, which can alter gene expression without changing the underlying DNA sequence. Furthermore, noncoding microRNAs, which play crucial roles in regulating gene expression, are being actively studied in relation to environmental factors that may contribute to the occurrence of cleft lip and palate.

This Special Issue will elucidate the multiple mechanisms influencing cleft lip and palate formation, with a particular focus on the intricate interactions between genetic, epigenetic, and environmental factors at both cellular and molecular levels. We aim to provide a comprehensive understanding of how these diverse factors contribute to the development of congenital defects in the craniofacial complex, potentially offering new insights to aid in developing prevention and treatment strategies.

Dr. Jeong-Oh Shin
Guest Editor

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Keywords

  • cleft lip/palate
  • signaling pathway
  • genetic/epigenetic
  • environmental factor
  • methylation
  • histone modification
  • chromatin remodeling

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Published Papers (1 paper)

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Review

48 pages, 2940 KiB  
Review
Molecular Regulation of Palatogenesis and Clefting: An Integrative Analysis of Genetic, Epigenetic Networks, and Environmental Interactions
by Hyuna Im, Yujeong Song, Jae Kyeom Kim, Dae-Kyoon Park, Duk-Soo Kim, Hankyu Kim and Jeong-Oh Shin
Int. J. Mol. Sci. 2025, 26(3), 1382; https://doi.org/10.3390/ijms26031382 - 6 Feb 2025
Cited by 2 | Viewed by 2658
Abstract
Palatogenesis is a complex developmental process requiring temporospatially coordinated cellular and molecular events. The following review focuses on genetic, epigenetic, and environmental aspects directing palatal formation and their implication in orofacial clefting genesis. Essential for palatal shelf development and elevation (TGF-β, BMP, FGF, [...] Read more.
Palatogenesis is a complex developmental process requiring temporospatially coordinated cellular and molecular events. The following review focuses on genetic, epigenetic, and environmental aspects directing palatal formation and their implication in orofacial clefting genesis. Essential for palatal shelf development and elevation (TGF-β, BMP, FGF, and WNT), the subsequent processes of fusion (SHH) and proliferation, migration, differentiation, and apoptosis of neural crest-derived cells are controlled through signaling pathways. Interruptions to these processes may result in the birth defect cleft lip and/or palate (CL/P), which happens in approximately 1 in every 700 live births worldwide. Recent progress has emphasized epigenetic regulations via the class of non-coding RNAs with microRNAs based on critically important biological processes, such as proliferation, apoptosis, and epithelial–mesenchymal transition. These environmental risks (maternal smoking, alcohol, retinoic acid, and folate deficiency) interact with genetic and epigenetic factors during palatogenesis, while teratogens like dexamethasone and TCDD inhibit palatal fusion. In orofacial cleft, genetic, epigenetic, and environmental impact on the complex epidemiology. This is an extensive review, offering current perspectives on gene-environment interactions, as well as non-coding RNAs, in palatogenesis and emphasizing open questions regarding these interactions in palatal development. Full article
(This article belongs to the Special Issue Gene Regulatory and Signaling Pathways in Palatogenesis)
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