Review
Cell Biology
Andrew J. Copp, Maryam Clark, Nicholas D. E. Greene
Summary: This article describes the morphological phenotyping of mouse embryos during neurulation stages, focusing on evaluating the outcome of whole embryo cultures between embryonic days 8.5 and 9.5. Phenotyping methods that can be performed using a stereomicroscope at the bench are discussed, including assessment of embryonic health, developmental stage, and growth. Neural tube closure assessment and interpretation of defects are also explained. This detailed embryonic phenotyping, combined with whole embryo culture, provides a basis for various experimental studies in early mouse neural development.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2023)
Article
Cell Biology
Sarah Escuin, Saba Rose Raza-Knight, Dawn Savery, Carles Gaston-Massuet, Gabriel L. Galea, Nicholas D. E. Greene, Andrew J. Copp
Summary: Understanding the molecular mechanisms behind birth defects is crucial for preventing them. In mouse embryos with the Zic2Ku/Ku mutation, severe spina bifida occurs due to the absence of dorsolateral hinge points in the neuroepithelium. Overactivation of bone morphogenetic protein (BMP) and RhoA signaling is observed, leading to abnormal neural tube closure. The use of specific inhibitors reveals the involvement of both BMP-dependent DLHP formation and RhoA-dependent actomyosin accumulation in the pathogenesis of spina bifida. This study provides insights into the multifactorial origin of spina bifida in humans.
DISEASE MODELS & MECHANISMS
(2023)
Article
Developmental Biology
Neophytos Christodoulou, Paris A. Skourides
Summary: Research has found that neural tube closure is a crucial step in vertebrate development, involving convergent extension and apical constriction. This process occurs in two stages, with each stage having different spatiotemporal contributions. Additionally, the movement of the surface ectoderm is found to be associated with neural plate morphogenesis, and excessive resistive forces from the surface ectoderm negatively impact neural plate morphogenesis.
Article
Biochemistry & Molecular Biology
Lina Mariana Tovar, Carlos Felipe Burgos, Gonzalo E. Yevenes, Gustavo Moraga-Cid, Jorge Fuentealba, Claudio Coddou, Luisa Bascunan-Godoy, Claudio Catrupay, Angel Torres, Patricio A. A. Castro
Summary: Neurulation is a crucial process in the formation of the central nervous system (CNS). Connexins (Cxs), which form gap junctions (GJs) and hemichannels (HCs), play a role in neural tube development. ATP release mediated by HCs-Cxs is important during the neurulation process. Blockade of HCs-Cxs can lead to neural tube defects (NTDs).
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Cell Biology
Daisuke Sakai, Yuki Murakami, Daichi Shigeta, Mitsuhiro Tomosugi, Hiromi Sakata-Haga, Toshihisa Hatta, Hiroki Shoji
Summary: Physiological hypoxia is critical for placental mammalian development, but the mechanisms by which it regulates embryonic development are unclear. Our study found that the expression of glycolytic genes in neuroepithelial cells of E8.25 mouse embryos partially depends on hypoxia. Inhibiting glycolysis during the early phase of neural tube closure resulted in a defect, while inhibiting the electron transport chain had no effect. Additionally, inhibiting glycolysis affected cell proliferation, but not differentiation and survival, through the repression of myosin light chain 2 phosphorylation.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2023)
Article
Multidisciplinary Sciences
Eirini Maniou, Michael F. Staddon, Abigail R. Marshall, Nicholas D. E. Greene, Andrew J. Copp, Shiladitya Banerjee, Gabriel L. Galea
Summary: Gap closure in mammalian embryos during embryonic hindbrain neuropore (HNP) closure follows specific mechanisms;
Asymmetric closure mechanisms involving pursestring contraction and directional cell motion accelerate the closure process;
Coordination of cellular and tissue-level mechanics is crucial for mammalian embryos to achieve this critical gap closure event.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Article
Developmental Biology
Yosuf Gheasuddin, Gabriel L. Galea
Summary: This study found that CBD acts as a neuroteratogen, increasing the risk of spina bifida and exencephaly in mouse embryo culture, without causing overt toxicity. Further large-scale testing is needed to understand the effects of CBD on neural tube closure, especially in at-risk groups.
BIRTH DEFECTS RESEARCH
(2022)
Article
Developmental Biology
Binbin Li, Liza Brusman, Jacob Dahlka, Lee A. Niswander
Summary: This study highlights the importance of mesoderm migration for spinal neural tube closure and implicates TMEM132A in regulating integrins and cell migration. Disruption of this process may lead to conditions like spina bifida.
Article
Clinical Neurology
Ahmet Cetinkal, Asli Cakir
Summary: This study found that the use of gabapentin may affect the neural tube development of early-stage chick embryos and lead to neural tube defects. Gabapentin could potentially cause these defects at all doses. There was no significant difference between the subtherapeutic, therapeutic, and supratherapeutic dose groups.
TURKISH NEUROSURGERY
(2021)
Article
Cell Biology
Neophytos Christodoulou, Paris A. Skourides
Summary: Neural tube closure is a crucial process in vertebrate embryogenesis, and defects in this process can lead to common birth defects. This study investigates the mechanical communication between the neural plate and the somitic mesoderm and its impact on tissue morphogenesis using Xenopus laevis embryos.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2023)
Article
Biology
Austin T. Baldwin, Juliana H. Kim, Hyemin Seo, John B. Wallingford
Summary: Failures of neural tube closure are common and serious birth defects, and our understanding of the interaction between genetics and cell biology in this process is limited. By analyzing the localization of actin and N-cadherin, we found regional specificity in cell behaviors during neural tube closure. Through studying mutations in the shroom3 gene, we gained mechanistic insights into its function and demonstrated the effectiveness of tissue-level imaging and analysis in understanding neural tube closure.
Review
Biochemistry & Molecular Biology
De-Li Shi
Summary: Gastrulation and neurulation are crucial morphogenetic processes involving cellular and molecular mechanisms to shape the embryonic body plan. Planar cell polarity proteins play a significant role in regulating these processes and their mutation can lead to various developmental defects and congenital diseases.
CELLULAR AND MOLECULAR LIFE SCIENCES
(2022)
Review
Clinical Neurology
Kyung Hyun Kim, Ji Yeoun Lee
Summary: Recent case reports on JNTD, a unique type of spinal anomaly characterized by the functional disconnection of primary and secondary neural tubes, have sparked interest in the process of junctional neurulation during development. This article summarizes the clinical features of JNTD and reviews the literature on basic research related to junctional neurulation.
JOURNAL OF KOREAN NEUROSURGICAL SOCIETY
(2021)
Article
Developmental Biology
JiSoo Park, Hao-An Hsiung, Irina Khven, Gioele La Manno, Matthias P. Lutolf
Summary: A self-organizing 3D neural tube organoid model derived from single mouse embryonic stem cells was developed, exhibiting in vivo-like tissue architecture, cell type composition, and anterior-posterior patterning. The maturation of the neural tube organoids revealed the emergence of multipotent neural crest cells and mature neurons. Single-cell transcriptome analyses provided insights into the transcriptional events during neural crest cell emergence and neural differentiation.
Article
Cell Biology
Kwantae Kim, Jameson Orvis, Alberto Stolfi
Summary: Pax3/7 factors play crucial roles in the development of the nervous system in vertebrates and are also involved in similar functions in the model tunicate Ciona. The study reveals that Pax3/7 is expressed in the neural plate borders and central nervous system after neural tube closure, playing a conserved role in neural tube closure and neuron specification. These results suggest that the key functions of Pax3/7 in neural tube development are evolutionarily ancient, dating back to the common ancestor of vertebrates and tunicates.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Review
Nutrition & Dietetics
Stephen W. D'Souza, Andrew J. Copp, Nicholas D. E. Greene, Jocelyn D. Glazier
Summary: Supplementation with myo-inositol may reduce the risk of neural tube defects, especially for NTDs unresponsive to folic acid. Maternal myo-inositol intake plays a crucial role in embryonic development, establishing active cellular uptake mechanisms and effectively lowering NTD risk in human pregnancy. The generation of materno-fetal inositol concentration gradients and a transport pathway for myo-inositol delivery contribute to inositol's ability to confer embryonic developmental benefit.
ADVANCES IN NUTRITION
(2021)
Article
Genetics & Heredity
Kit-Yi Leung, Sandra C. P. De Castro, Gabriel L. Galea, Andrew J. Copp, Nicholas D. E. Greene
Summary: The loss of GCSH gene leads to embryonic death in mice prior to mid-gestation, in contrast to the compatibility of GLDC or AMT loss with embryonic survival. This suggests that GCSH may have additional roles beyond the glycine cleavage system.
FRONTIERS IN GENETICS
(2021)
Article
Multidisciplinary Sciences
Gabriel L. Galea, Eirini Maniou, Timothy J. Edwards, Abigail R. Marshall, Ioakeim Ampartzidis, Nicholas D. E. Greene, Andrew J. Copp
Summary: The mosaic deletion of Vangl2 in the murine neuroepithelium causes spina bifida by preventing apical constriction via reduced myosin II and tubulin organization. This non-autonomous effect explains how post-zygotic mutations affecting a minority of cells can lead to catastrophic failure of morphogenesis.
NATURE COMMUNICATIONS
(2021)
Article
Multidisciplinary Sciences
Eirini Maniou, Michael F. Staddon, Abigail R. Marshall, Nicholas D. E. Greene, Andrew J. Copp, Shiladitya Banerjee, Gabriel L. Galea
Summary: Gap closure in mammalian embryos during embryonic hindbrain neuropore (HNP) closure follows specific mechanisms;
Asymmetric closure mechanisms involving pursestring contraction and directional cell motion accelerate the closure process;
Coordination of cellular and tissue-level mechanics is crucial for mammalian embryos to achieve this critical gap closure event.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Article
Developmental Biology
Alexandra J. Palmer, Dawn Savery, Valentina Massa, Andrew J. Copp, Nicholas D. E. Greene
Summary: Mouse models are utilized to study genetic interactions leading to neural tube defects. This study investigated the potential interactions between Pax3 mutation and canonical Wnt signaling using conditional genetic models. The findings suggest that β-catenin function modulates the frequency of PAX3-related NTDs in mice, affecting both cranial and spinal neural tube closure differently.
Article
Cell Biology
Oleksandr Nychyk, Gabriel L. Galea, Matteo Mole, Dawn Savery, Nicholas D. E. Greene, Philip Stanier, Andrew J. Copp
Summary: The study suggests that reduced sulfation of glycosaminoglycans interacting with heterozygosity for the Vangl2 gene may lead to craniorachischisis in mouse embryos, rather than defective neuroepithelial cell movements. Exogenous sulphate can rescue this defect.
DISEASE MODELS & MECHANISMS
(2022)
Letter
Developmental Biology
Andrew J. Copp, Nicholas D. E. Greene, Jennifer Jao, Rebecca Zash, Haneesha Mohan, Valeriya Dontsova, Lena Serghides
BIRTH DEFECTS RESEARCH
(2022)
Article
Genetics & Heredity
Siti Waheeda Mohd-Zin, Amelia Cheng Wei Tan, Wahib M. Atroosh, Meow-Keong Thong, Abu Bakar Azizi, Nicholas D. E. Greene, Noraishah Mydin Abdul-Aziz
Summary: This study analyzed Ephs-ephrins gene variants in Malaysian individuals with spina bifida and their family members, and found that some of them carried mutations in these genes. The variants were rare based on comparison with public databases.
Article
Genetics & Heredity
Sophie Jamet, Seungshin Ha, Tzu-Hua Ho, Scott Houghtaling, Andrew Timms, Kai Yu, Alison Paquette, Ali Murat Maga, Nicholas D. E. Greene, David R. Beier
Summary: By performing ENU mutagenesis in mice and screening for mutations affecting embryonic development, we discovered a mutation in the Carm1 gene that is implicated in heart development defects. Our study found that Carm1 mutant mice exhibit various cardiac defects, including cardiac rupture, hemorrhaging, and different types of heart defects. Transcriptome analysis revealed the dysregulation of several genes involved in cardiac morphogenesis and muscle development and function.
G3-GENES GENOMES GENETICS
(2022)
Article
Nutrition & Dietetics
Eleanor Weston, Faith Pangilinan, Simon Eaton, Michael Orford, Kit-Yi Leung, Andrew J. Copp, James L. Mills, Anne M. Molloy, Lawrence C. Brody, Nicholas D. E. Greene
Summary: This study investigated the potential genetic regulation of plasma myo-inositol (MI) levels and found that the SLC5A11 gene may have a regulatory role in the plasma MI levels of young adults.
JOURNAL OF NUTRITION
(2022)
Article
Biology
Xiaoyu Che, Jufen Liu, Gabriel L. Galea, Yali Zhang, Nicholas D. E. Greene, Le Zhang, Lei Jin, Linlin Wang, Aiguo Ren, Zhiwen Li
Summary: Neural tube defects are severe congenital malformations, and folic acid supplementation can reduce their prevalence in northern China. The presence of comorbid malformations suggests a shared etiology.
Article
Cell Biology
Sarah Escuin, Saba Rose Raza-Knight, Dawn Savery, Carles Gaston-Massuet, Gabriel L. Galea, Nicholas D. E. Greene, Andrew J. Copp
Summary: Understanding the molecular mechanisms behind birth defects is crucial for preventing them. In mouse embryos with the Zic2Ku/Ku mutation, severe spina bifida occurs due to the absence of dorsolateral hinge points in the neuroepithelium. Overactivation of bone morphogenetic protein (BMP) and RhoA signaling is observed, leading to abnormal neural tube closure. The use of specific inhibitors reveals the involvement of both BMP-dependent DLHP formation and RhoA-dependent actomyosin accumulation in the pathogenesis of spina bifida. This study provides insights into the multifactorial origin of spina bifida in humans.
DISEASE MODELS & MECHANISMS
(2023)
Article
Biochemistry & Molecular Biology
Zoe Crane-Smith, Sandra C. P. De Castro, Evanthia Nikolopoulou, Paul Wolujewicz, Damian Smedley, Yunping Lei, Emma Mather, Chloe Santos, Mark Hopkinson, Andrew A. Pitsillides, M. Elisabeth Genomics England Res Consortium, Richard H. Finnell, M. Elisabeth Ross, Andrew J. Copp, Nicholas D. E. Greene
Summary: Orofacial clefts and neural tube defects are common congenital anomalies, and the genetic basis for these conditions is still not fully understood. Excess expression of the Grhl2 gene causes various defects in mice, including orofacial clefts and abnormalities in the craniofacial region. Further analysis revealed a retrotransposon insertion in the regulatory region of Grhl2, which may contribute to craniofacial anomalies and neural tube defects in humans.
HUMAN MOLECULAR GENETICS
(2023)
Review
Developmental Biology
Cheng Shi, Pengfei Jiao, Zhiyi Chen, Lan Ma, Siyue Yao
Summary: This review discusses the molecular etiology of congenital craniofacial abnormalities, with a focus on the role and mechanism of noncoding RNAs in regulating craniofacial development. Aberrant expression of noncoding RNAs has been implicated in the pathogenesis of craniofacial abnormalities, providing potential therapeutic targets.
DEVELOPMENTAL BIOLOGY
(2024)
Article
Developmental Biology
Hideru Togashi, Steven Ray Davis, Makoto Sato
Summary: Tile patterns, regulated by cell adhesion molecules, are regular arrangements of cells that play important functional roles in multicellular organisms. The physical constraints and cell adhesion regulate both cell shape and tissue morphogenesis.
DEVELOPMENTAL BIOLOGY
(2024)
Article
Developmental Biology
Armen Khanbabei, Lina Segura, Cynthia Petrossian, Aaron Lemus, Ithan Cano, Courtney Frazier, Armen Halajyan, Donnie Ca, Mariano Loza-Coll
Summary: This article investigates the genetic regulatory mechanisms of Drosophila intestinal stem cells. The study found that most target genes co-regulated by Esg and STAT show a consistent gene expression pattern. However, manipulating these validated targets in vivo rarely replicated the effects of manipulating Esg and STAT, suggesting the presence of complex genetic interactions among the downstream targets of these two master regulator genes.
DEVELOPMENTAL BIOLOGY
(2024)
Article
Developmental Biology
Bayley J. Waters, Zoe R. Birman, Matthew R. Wagner, Julia Lemanski, Barak Blum
Summary: Researchers found that conditional deletion of Robo2 in adult mice led to a significant loss of islet architecture without affecting beta cell identity or function, suggesting that Robo2 plays a role in actively maintaining adult islet architecture. Understanding the factors required for islet architecture maintenance is crucial for developing future diabetes therapies.
DEVELOPMENTAL BIOLOGY
(2024)
Article
Developmental Biology
Rhiannon Clements, Tyler Smith, Luke Cowart, Jennifer Zhumi, Alan Sherrod, Aidan Cahill, Ginger L. Hunter
Summary: Cell protrusions play a crucial role in regulating cell activities during development. By studying the regulation mechanism in fruit fly sensory bristle patterning, it was found that Myosin XV is essential for the dynamics of signaling filopodia and promotes long-range Notch signaling.
DEVELOPMENTAL BIOLOGY
(2024)
Article
Developmental Biology
Margaret Keating, Ryan Hagle, Daniel Osorio-Mendez, Anjelica Rodriguez-Parks, Sarah I. Almutawa, Junsu Kang
Summary: Knock-in reporter (KI) animals are essential for studying gene expression in biomedical research. This study developed a new strategy using minicircle technology and a minimal promoter to enhance knock-in events and establish stable KI transgenic reporter lines. The study also highlighted the importance of selecting the proper KI line due to potential inappropriate influence of genome editing on reporter gene expression.
DEVELOPMENTAL BIOLOGY
(2024)
Article
Developmental Biology
Christian Altbuerger, Meta Rath, Daniel Armbruster, Wolfgang Driever
Summary: This study reveals that Neurog1 and Olig2 transcription factors have differential requirements for the development of dopaminergic neurons, and they integrate local patterning signals and Notch neurogenic selection signaling to specify the progenitor population and initiate neurogenesis and differentiation.
DEVELOPMENTAL BIOLOGY
(2024)