Article
Cell Biology
Zhaohui Wei, Qiang Hong, Zijiao Ding, Jingwen Liu
Summary: The study generated mutant lines for cxcl12a and cxcr4b using the CRISPR/Cas9 system. Results showed that Cxcl12a is crucial for pharyngeal cartilage formation by promoting the proliferation of craniofacial neural crest cells. Additionally, Cxcl12a and Cxcl12b were found to have a synergistic influence on pharyngeal arch and pouch formation.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2023)
Article
Cell Biology
Ching-Fang Chang, Kari M. Brown, Yanfen Yang, Samantha A. Brugmann
Summary: Primary cilia, microtubule-based cellular organelles, play a critical role in cellular function and their dysfunction is associated with various disorders. The C2cd3 protein is essential for ciliogenesis and mutations in this gene are linked to certain ciliopathies. Genetic background was found to influence the phenotypic variation in mice models, suggesting a complex interplay between genetic factors and disease manifestation.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Medicine, Research & Experimental
Shuyu Guo, Li Meng, Haojie Liu, Lichan Yuan, Na Zhao, Jieli Ni, Yang Zhang, Jingling Ben, Yi-Ping Li, Jinqing Ma
Summary: The Trio gene interacts with Myh9 to play a key role in neural crest cell migration and differentiation during craniofacial development, affecting craniofacial growth. Injecting specific genes into zebrafish with Trio deficiency partially rescues craniofacial abnormalities, providing potential model systems to study the pathogenic mechanisms of Trio mutations.
Article
Biochemistry & Molecular Biology
Ranjeet D. Kar, Johann K. Eberhart
Summary: Most human birth defects have variable phenotypes, which are thought to be caused by complex gene-environment interactions. Mutations in the Gata3 gene can lead to birth defects, and zebrafish gata3 mutants mimic the variability seen in humans. In this study, an unbiased bioinformatic approach was used to identify environmental modifiers of gata3 mutant craniofacial phenotypes.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Physiology
Haoran Zhang, Junjie Xie, Karl Kam Hei So, Ka Kui Tong, Jearn Jang Sae-Pang, Li Wang, Sze Lan Tsang, Wood Yee Chan, Elaine Yee Man Wong, Mai Har Sham
Summary: This study demonstrates that Hoxb3 regulates Jag1 expression, affecting the normal development of craniofacial structures, particularly the growth of pharyngeal arches and migration of neural crest cells. Molecular experiments showed that Hoxb3 directly regulates Jag1 expression, with elevated expression in the pharyngeal epithelium leading to abnormal cellular interactions and a deficiency in neural crest cells migrating into PA2.
FRONTIERS IN PHYSIOLOGY
(2021)
Review
Cell Biology
Sharien Fitriasari, Paul A. Trainor
Summary: Craniofacial malformations are common birth defects in humans and have significant functional, aesthetic, and social consequences. Over 700 distinct disorders have been described, but the genetic, environmental, and developmental origins remain unclear. Phenotypic variation seems to be a result of both genetic and non-genetic factors, with environmental factors such as maternal diabetes playing a role in increasing the risk of craniofacial birth defects.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Biology
Eric Van Otterloo, Isaac Milanda, Hamish Pike, Jamie A. Thompson, Hong Li, Kenneth L. Jones, Trevor Williams
Summary: The facial surface ectoderm plays a vital role in the development of cranial neural crest cell populations by providing signals for growth, patterning, and morphogenesis. This study shows that two members of the AP-2 transcription factor family, AP-2 alpha and AP-2ss, are important for normal craniofacial development and signaling. The loss of these transcription factors leads to clefts in the upper face and mandible, as well as fusion of the upper and lower jaws in the hinge region.
Article
Environmental Sciences
Zekun Li, Kun Jia, Xiaomei Chen, Jun Guo, Zhiguo Zheng, Weihua Chen, Yuan Peng, Yuhao Yang, Huiqiang Lu, Jian Yang
Summary: This study investigated the developmental toxicity of Butylparaben (BuP) in zebrafish embryos, and found that exposure to BuP caused severe craniofacial deformities, periocular edema, cardiac dysplasia, and delayed otolith development in zebrafish larvae. The oxidative stress response was enhanced, and the activities of catalase and superoxide dismutase were reduced while the concentration of malondialdehyde was elevated. In addition, ALP activity and the expression of chondrocyte marker genes were decreased. These findings indicate that BuP-induced oxidative stress inhibits the proliferation of neural crest cells (NCCs), leading to craniofacial deformities.
ECOTOXICOLOGY AND ENVIRONMENTAL SAFETY
(2023)
Article
Biochemistry & Molecular Biology
Omran Karmach, Joseph Madrid, Subham Dasgupta, David C. Volz, Nicole zur Nieden
Summary: Cigarette smoke exposure is the main preventable cause of death and disease in the United States. Secondhand smoke can harm pregnant women and developing embryos, leading to issues with bone mineralization and craniofacial defects.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Physiology
Nayoung Ha, Jian Sun, Qian Bian, Dandan Wu, Xudong Wang
Summary: This study reveals that Hdac4 plays a regulatory role in craniofacial skeletal development by positively regulating the proliferation of cranial neural crest cells (CNCC)-derived osteoblasts. Knocking out Hdac4 leads to decreased frontal bone formation and dysregulation of cell cycle-related genes.
FRONTIERS IN PHYSIOLOGY
(2022)
Article
Biology
Mathi Thiruppathy, Peter Fabian, J. Andrew Gillis, J. Gage Crump
Summary: This study suggests that the jaw may have evolved from an ancestral mandibular gill, as the zebrafish pseudobranch shares gene expression, enhancer utilization, and developmental dependence with gills.
Article
Genetics & Heredity
Micaela Lasser, Jessica Bolduc, Luke Murphy, Caroline O'Brien, Sangmook Lee, Santhosh Girirajan, Laura Anne Lowery
Summary: Copy number variants (CNVs) associated with neurodevelopmental disorders show extensive phenotypic heterogeneity. Deletion of multiple genes at chromosome 16p12.1 has been linked to intellectual disabilities (ID), microcephaly, seizures, cardiac defects, and craniofacial abnormalities. This study demonstrates the crucial role of 16p12.1 genes in regulating vertebrate craniofacial development, particularly neural crest cell (NCC)-related processes.
FRONTIERS IN GENETICS
(2022)
Article
Developmental Biology
Derrick M. Glasco, Zhidong Wang, Seonwoo Kang, Avery T. Funkhouser
Summary: Acetaminophen has significant effects on early embryonic development in zebrafish, resulting in severe craniofacial cartilage defects and increased apoptosis, primarily affecting pharyngeal arch development.
JOURNAL OF DEVELOPMENTAL BIOLOGY
(2022)
Article
Genetics & Heredity
Daniel Quiat, Andrew T. Timberlake, Justin J. Curran, Michael L. Cunningham, Barbara McDonough, Maria A. Artunduaga, Steven R. DePalma, Milagros M. Duenas-Roque, Joshua M. Gorham, Jonas A. Gustafson, Usama Hamdan, Anne V. Hing, Paula Hurtado-Villa, Yamileth Nicolau, Gabriel Osorno, Harry Pachajoa, Gloria L. Porras-Hurtado, Lourdes Quintanilla-Dieck, Luis Serrano, Melissa Tumblin, Ignacio Zarante, Daniela V. Luquetti, Roland D. Eavey, Carrie L. Heike, Jonathan G. Seidman, Christine E. Seidman
Summary: This study identified damaging variants in the FOXI3 gene as a genetic cause of craniofacial microsomia (CFM). Missense variants in the nuclear localization sequence were found to affect the subcellular localization of FOXI3. The study concluded that damaging variants in FOXI3 account for approximately 13% of familial cases and 1% of all cases of CFM.
GENETICS IN MEDICINE
(2023)
Article
Dentistry, Oral Surgery & Medicine
X. Wang, Y. Liang, Z. Zhu, W. Li, B. Shi, Y. Deng, C. Li, O. Sha
Summary: This study demonstrates that fibronectin 1 (Fn1) synthesized by neural crest cells (NCCs) plays a crucial role in regulating the patterning of the third pharyngeal pouch and the morphogenesis of the thymus/parathyroid.
JOURNAL OF DENTAL RESEARCH
(2022)
Article
Multidisciplinary Sciences
Tri H. Vu, Masaki Takechi, Miki Shimizu, Taro Kitazawa, Hiroki Higashiyama, Akiyasu Iwase, Hiroki Kurihara, Sachiko Iseki
Summary: The study investigated the differentiation potential of head mesenchyme by forcing Dlx5 expression in mouse NCC, leading to enhanced dermal and pigment cell differentiation with ectopic cartilage and heterotopic bone formation. The findings suggest that the non-skeletogenic early migrating mesenchyme can give rise to diverse tissues through different signaling pathways, supporting the idea that this cell population is capable of chondrogenesis and osteogenesis under Dlx5-augmentation.
SCIENTIFIC REPORTS
(2021)
Article
Multidisciplinary Sciences
Kazuaki Maruyama, Kazuaki Naemura, Yuichiro Arima, Yasunobu Uchijima, Hiroaki Nagao, Kenji Yoshihara, Manvendra K. Singh, Akiyoshi Uemura, Fumio Matsuzaki, Yutaka Yoshida, Yukiko Kurihara, Sachiko Miyagawa-Tomita, Hiroki Kurihara
Summary: The development of blood and lymphatic vessels around the heart is related to Semaphorin 3E (Sema3E) and its receptor PlexinD1 derived from the epicardium and pericardium. Inactivation of Sema3E-PlexinD1 signaling can improve cardiac function recovery through increasing reactive lymphangiogenesis in coronary artery diseases.
Editorial Material
Multidisciplinary Sciences
Yumiko K. Kawamura, Antoine H. F. M. Peters
Article
Cell Biology
Rym Aouci, Mey El Soudany, Zakaria Maakoul, Anastasia Fontaine, Hiroki Kurihara, Giovanni Levi, Nicolas Narboux-Neme
Summary: The study found that the regulation of Dlx5/6 genes in adult GABAergic neurons has a direct impact on the density of PV-positive neurons, anxiety and compulsivity-like behaviors, reinforcing their importance in neuropsychiatric conditions.
Article
Endocrinology & Metabolism
Rachel D. Mullen, Brice Bellessort, Giovanni Levi, Richard R. Behringer
Summary: Dlx5 and Dlx6 are linked transcription factors that play redundant roles in craniofacial, skeletal, and uterine development. They are potentially AMH-induced genes and are involved in mediating AMH-induced regression of the Mullerian duct. Their expression is regulated by AMH signaling, and their absence or mutations can lead to incomplete or severe Mullerian duct regression.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Anatomy & Morphology
Yuka Haneda, Sachiko Miyagawa-Tomita, Yasunobu Uchijima, Akiyasu Iwase, Rieko Asai, Takahide Kohro, Youichiro Wada, Hiroki Kurihara
Summary: This study demonstrates the novel roles of ASCs, especially in heart and thyroid development. It sheds light on the cardiovascular development of amniotes from both embryological and evolutionary perspectives.
DEVELOPMENTAL DYNAMICS
(2022)
Review
Cell Biology
Giovanni Levi, Nicolas Narboux-Neme, Martine Cohen-Solal
Summary: Skeletal shape and mechanical properties play a crucial role in vertebrate morphology and physical capacities. The development of skeletal morphology depends on communication between chondrocytes, osteoblasts, osteoclasts, and other cellular components of the skeleton. Likewise, skeletal integrity in later stages of life relies on regulatory cascades ensuring the balance between bone formation and resorption.
Article
Biology
Tatsuya Hayashi, Fumitaka Yura, Jun Mada, Hiroki Kurihara, Tetsuji Tokihiro
Summary: A two-dimensional mathematical model for dynamics of endothelial cells in angiogenesis is studied, showing that the oblateness of ellipses and the magnitude of contact rotation significantly influence the shape of vascular patterns and elongation of branches.
JOURNAL OF THEORETICAL BIOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Eishi Aizawa, Evgeniy A. Ozonov, Yumiko K. Kawamura, Charles-Etienne Dumeau, So Nagaoka, Tomoya S. Kitajima, Mitinori Saitou, Antoine H. F. M. Peters, Anton Wutz
Summary: Recent studies have compared the development of mouse germ cells in vitro and in vivo, and identified key factors contributing to the low developmental competence of in vitro-derived oocytes, including misregulation of genes involved in oocyte growth and abnormal epigenetic regulation during early oogenesis.
Article
Multidisciplinary Sciences
Norika Liu, Naofumi Kawahira, Yasuhiro Nakashima, Haruko Nakano, Akiyasu Iwase, Yasunobu Uchijima, Mei Wang, Sean M. Wu, Susumu Minamisawa, Hiroki Kurihara, Atsushi Nakano
Summary: This study reveals that the Nkx2-5/Notch/RA signaling pathway is crucial for macrophage differentiation and that a subset of endocardial cells gives rise to hematopoietic cells, which are important for the formation of cardiac valves.
NATURE COMMUNICATIONS
(2023)
Article
Medicine, Research & Experimental
Yukiko Kurihara, Toru Ekimoto, Christopher T. Gordon, Yasunobu Uchijima, Ryo Sugiyama, Taro Kitazawa, Akiyasu Iwase, Risa Kotani, Rieko Asai, Veronique Pingault, Mitsunori Ikeguchi, Jeanne Amiel, Hiroki Kurihara
Summary: Mutations in the gene encoding endothelin receptor type A (ETAR/EDNRA) cause mandibulofacial dysostosis with alopecia (MFDA) by increasing ligand affinity through molecular changes in the intracellular and extracellular portions of transmembrane helices. These gain-of-function mutations were rescued by deletion of the ligand endothelin 3 (ET3/EDN3), confirming their dependence on ET3. These findings provide insight into the pathogenesis of MFDA and the allosteric mechanism of G protein-coupled receptor (GPCR) function.
JOURNAL OF CLINICAL INVESTIGATION
(2023)
Article
Biochemical Research Methods
Kazuaki Maruyama, Kazuaki Naemura, Kenji Yoshihara, Kyoko Imanaka-Yoshida, Hiroki Kurihara, Sachiko Miyagawa-Tomita
Summary: Myocardial infarction is a common cause of death globally, and animal models are useful for studying its pathophysiology and therapies. The surgical protocol for inducing MI in mice described in this study includes detailed procedures and videos for stable and reproducible operations. It is recommended to refer to Maruyama et al. (2021) for complete details on protocol usage and execution.
Article
Endocrinology & Metabolism
Yuichiro Arima, Yoshiko Nakagawa, Toru Takeo, Toshifumi Ishida, Toshihiro Yamada, Shinjiro Hino, Mitsuyoshi Nakao, Sanshiro Hanada, Terumasa Umemoto, Toshio Suda, Tetsushi Sakuma, Takashi Yamamoto, Takehisa Watanabe, Katsuya Nagaoka, Yasuhito Tanaka, Yumiko K. Kawamura, Kazuo Tonami, Hiroki Kurihara, Yoshifumi Sato, Kazuya Yamagata, Taishi Nakamura, Satoshi Araki, Eiichiro Yamamoto, Yasuhiro Izumiya, Kenji Sakamoto, Koichi Kaikita, Kenichi Matsushita, Koichi Nishiyama, Naomi Nakagata, Kenichi Tsujita
Summary: Ketogenesis plays a protective role in mitochondrial function during the perinatal period, critical for survival of neonates and infants.
