Davide Martini, Chiara De Cesari, Matteo Digregorio, Alessia Muscò, Guido Giudetti, Martina Giannaccini, Massimiliano Andreazzoli
{"title":"Expression analysis of <i>thg1l</i> during <i>Xenopus laevis</i> development.","authors":"Davide Martini, Chiara De Cesari, Matteo Digregorio, Alessia Muscò, Guido Giudetti, Martina Giannaccini, Massimiliano Andreazzoli","doi":"10.1387/ijdb.240033ma","DOIUrl":"10.1387/ijdb.240033ma","url":null,"abstract":"<p><p>The tRNA-histidine guanylyltransferase 1-like (<i>THG1L</i>), also known as induced in high glucose-1 (<i>IHG-1</i>), encodes for an essential mitochondria-associated protein highly conserved throughout evolution, that catalyses the 3'-5' addition of a guanine to the 5'-end of tRNA-histidine (tRNA<sup>His</sup>). Previous data indicated that THG1L plays a crucial role in the regulation of mitochondrial biogenesis and dynamics, in ATP production, and is critically involved in the modulation of apoptosis, cell-cycle progression and survival, as well as in cellular stress responses and redox homeostasis. Dysregulations of THG1L expression play a central role in various pathologies, including nephropathies, and neurodevelopmental disorders often characterized by developmental delay and cerebellar ataxia. Despite the essential role of THG1L, little is known about its expression during vertebrate development. Herein, we examined the detailed spatio-temporal expression of this gene in the developing <i>Xenopus laevis</i>. Our results show that <i>thg1l</i> is maternally inherited and its temporal expression suggests a role during the earliest stages of embryogenesis. Spatially, <i>thg1l</i> mRNA localizes in the ectoderm and marginal zone mesoderm during early stages of development. Then, at tadpole stages, <i>thg1l</i> transcripts mostly localise in neural crests and their derivatives, somites, developing kidney and central nervous system, therefore largely coinciding with territories displaying intense energy metabolism during organogenesis in <i>Xenopus</i>.</p>","PeriodicalId":94228,"journal":{"name":"The International journal of developmental biology","volume":"68 2","pages":"85-91"},"PeriodicalIF":0.0,"publicationDate":"2024-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141629668","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Coenocystic oogenesis - modification of or deviation from the germ cell cyst paradigm?","authors":"Malgorzata Kloc","doi":"10.1387/ijdb.240064mk","DOIUrl":"https://doi.org/10.1387/ijdb.240064mk","url":null,"abstract":"<p><p>Invertebrate and vertebrate species have many unusual cellular structures, such as long- or short-lived cell-in-cell structures and coenocytes. Coenocytes (often incorrectly described as syncytia) are multinuclear cells derived, unlike syncytia, not from the fusion of multiple cells but from multiple nuclear divisions without cytokinesis. An example of a somatic coenocyte is the coenocytic blastoderm in <i>Drosophila.</i> An astonishing property of coenocytes is the ability to differentiate the nuclei sharing a common cytoplasm into different subpopulations with different fate trajectories. An example of a germline coenocyte is the oogenic precursor of appendicularian tunicates, which shares many features with the somatic coenocyte of <i>Drosophila.</i> The germline coenocyte (coenocyst) is quite an unexpected structure because in most animals, including <i>Drosophila, Xenopus</i>, and mice, oogenesis proceeds within a group (cyst, nest) of sibling cells (cystocytes) connected by the intercellular bridges (ring canals, RCs) derived from multiple divisions with incomplete cytokinesis of a progenitor cell called the cystoblast. Here, I discuss the differences and similarities between cystocyte-based and coenocyst-based oogenesis, and the resemblance of coenocystic oogenesis to coenocytic somatic blastoderm in <i>Drosophila.</i> I also describe cell-in-cell structures that although not mechanistically, cytologically, or molecularly connected to somatic or germline coenocytes, are both unorthodox and intriguing cytological phenomena rarely covered by scientific literature.</p>","PeriodicalId":94228,"journal":{"name":"The International journal of developmental biology","volume":"68 2","pages":"47-53"},"PeriodicalIF":0.0,"publicationDate":"2024-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141629667","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Mojtaba Esmaeli, Mahdi Barazesh, Zeinab Karimi, Shiva Roshankhah, Ali Ghanbari
{"title":"Molecular signaling directing neural plate border formation.","authors":"Mojtaba Esmaeli, Mahdi Barazesh, Zeinab Karimi, Shiva Roshankhah, Ali Ghanbari","doi":"10.1387/ijdb.230231me","DOIUrl":"https://doi.org/10.1387/ijdb.230231me","url":null,"abstract":"<p><p>During embryonic development, the vertebrate embryonic epiblast is divided into two parts including neural and superficial ectoderm. The neural plate border (NPB) is a narrow transitional area which locates between these parts and contains multipotent progenitor cells. Despite its small size, the cellular heterogeneity in this region produces specific differentiated cells. Signaling pathways, transcription factors, and the expression/repression of certain genes are directly involved in these differentiation processes. Different factors such as the Wnt signaling cascade, fibroblast growth factor (FGF), bone morphogenetic protein (BMP) signaling, and Notch, which are involved in various stages of the growth, proliferation, and differentiation of embryonic cells, are also involved in the determination and differentiation of neural plate border stem cells. Therefore, it is essential to consider the interactions and temporospatial coordination related to cells, tissues, and adjacent structures. This review examines our present knowledge of the formation of the neural plate border and emphasizes the requirement for interaction between different signaling pathways, including the BMP and Wnt cascades, the expression of its special target genes and their regulations, and the precise tissue crosstalk which defines the neural crest fate in the ectoderm at the early human embryonic stages.</p>","PeriodicalId":94228,"journal":{"name":"The International journal of developmental biology","volume":"68 2","pages":"65-78"},"PeriodicalIF":0.0,"publicationDate":"2024-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141629669","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"TBC1D24 is likely to regulate vesicle trafficking in glia-like non-sensory epithelial cells of the cochlea.","authors":"Jean Defourny","doi":"10.1387/ijdb.240060jd","DOIUrl":"10.1387/ijdb.240060jd","url":null,"abstract":"<p><p>Mutations in the gene encoding Tre2/Bub2/Cdc16 (TBC)1 domain family member 24 (TBC1D24) protein are associated with a variety of neurological disorders, ranging from non-syndromic hearing loss to drug-resistant lethal epileptic encephalopathy and DOORS syndrome [Deafness, Onychodystrophy, Osteodystrophy, intellectual disability (formerly referred to as mental Retardation), and Seizures]. TBC1D24 is a vesicle-associated protein involved in neural crest cell and neuronal migration, maturation, and neurotransmission. In the cochlea, TBC1D24 has been detected in auditory neurons, but few reliable and convergent data exist about the sensory epithelium. Here, the expression of TBC1D24 has been characterized via immunolabelling throughout the postnatal maturation of the mouse cochlear sensory epithelium. TBC1D24 was detected in glia-like non-sensory epithelial cells during early developmental stages. In contrast, TBC1D24 was virtually absent in adjacent sensory hair cells. This expression distinguishing non-sensory from sensory epithelial cells almost disappears around the onset of hearing. Until now, TBC1D24 was mainly described as a neuronal protein either in the brain or in the cochlea. The present observations suggest that TBC1D24 could also regulate vesicle trafficking in cochlear glia-like non-sensory epithelial cells. For a long time, research about epilepsy has been mainly neurocentric. However, there is now evidence proving that glial cell dysregulation contribute to pathogenesis of epilepsy and neurodevelopmental disorders. As a consequence, exploring the possibility that TBC1D24 could also have a role in glial cells of the central nervous system could help to gain insight into TBC1D24-related neurological pathogenesis.</p>","PeriodicalId":94228,"journal":{"name":"The International journal of developmental biology","volume":" ","pages":"79-83"},"PeriodicalIF":0.0,"publicationDate":"2024-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141312704","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"TGF-β signaling molecules in <i>Hydra</i>: role of BMP and BMP inhibitors during pattern formation.","authors":"Lakshmi-Surekha Krishnapati, Surendra Ghaskadbi","doi":"10.1387/ijdb.240009sg","DOIUrl":"10.1387/ijdb.240009sg","url":null,"abstract":"<p><p>Understanding the evolution of body plans has been one of the major areas of investigation in developmental and evolutionary biology. Cnidaria, the sister group to bilaterians, provides an opportunity to elucidate the origin and evolution of body axes. <i>Hydra</i>, a freshwater cnidarian, is a useful model to study signaling pathways governing pattern formation, which are conserved up to vertebrates including humans. The transforming growth factor β (TGF-β) signaling pathway is one of the fundamental pathways that regulate axis formation and organogenesis during embryonic development. In this article, we discuss the TGF-β pathway members identified in <i>Hydra</i> along with other cnidarians with an emphasis on bone morphogenetic proteins (BMPs) and their inhibitors. TGF-β members, especially those involved in BMP signaling pathway, are mainly involved in maintaining the Organizer region and patterning the body axis in <i>Hydra</i>. Identification of other members of this pathway in <i>Hydra</i> and fellow cnidarians would provide insights into the evolution of body axes and pattern formation in more complex metazoans.</p>","PeriodicalId":94228,"journal":{"name":"The International journal of developmental biology","volume":" ","pages":"55-64"},"PeriodicalIF":0.0,"publicationDate":"2024-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141072391","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"<i>Ccer1</i> is a spermatid-specific gene required for spermatogenesis and male fertility.","authors":"Bianca Sammer, Philomena Schmid, Haruhiko Miyata, Samina Kazi, Anna-Liisa Honkimaa, Petar Petrov, Emmi Kapiainen, Ilkka Miinalainen, Valerio Izzi, Masahito Ikawa, Renata Prunskaite-Hyyryläinen","doi":"10.1387/ijdb.240205rp","DOIUrl":"10.1387/ijdb.240205rp","url":null,"abstract":"<p><p>Male infertility is a multifactorial condition for which the underlying causes frequently remain undefined. Genetic factors have long been associated with male fertility. However, many of them are poorly or not at all characterized and their biological functions are unknown. Identifying the key genes behind male infertility is crucial for improving prognosis and treatment options, as well as for evaluating the risk of passing on genetic defects through natural or assisted reproductive methods to the next generation. Here, we have studied the Coiled-coil domain-containing glutamate-rich protein 1 (<i>Ccer1</i>), a poorly characterized gene specific to vertebrates. We demonstrate that it is enriched during spermiogenesis in spermatids in both mice and humans. The studied <i>Ccer1</i> knockout mice exhibit significant subfertility due to the absence of <i>Ccer1</i> function, which leads to altered sperm head and tail ultrastructure. This study defines <i>Ccer1</i> as a spermatid-specific gene critical for spermiogenesis, suggesting it would be worthwhile inspecting when there is a suspicion of male infertility associated with genetic causes.</p>","PeriodicalId":94228,"journal":{"name":"The International journal of developmental biology","volume":" ","pages":"251-262"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143049374","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Genetic targeting of lymphatic endothelial cells in mice: current strategies and future perspectives.","authors":"Hans Schoofs, Taija Mäkinen","doi":"10.1387/ijdb.230215tm","DOIUrl":"10.1387/ijdb.230215tm","url":null,"abstract":"<p><p>Lymphatic vessels within different organs have diverse developmental origins, depend on different growth factor signaling pathways for their development and maintenance, and display notable tissue-specific adaptations that contribute to their roles in normal physiology and in various diseases. Functional studies on the lymphatic vasculature rely extensively on the use of mouse models that allow selective gene targeting of lymphatic endothelial cells (LECs). Here, we discuss LEC diversity and provide an overview of some of the commonly used LEC-specific inducible Cre lines and induction protocols, outlining essential experimental parameters and their implications. We describe optimized treatment regimens for embryonic, postnatal and adult LECs, efficiently targeting organs that are commonly studied in lymphatic vascular research, such as the mesentery and skin. We further highlight the anticipated outcomes and limitations associated with each induction scheme and mouse line. The proposed protocols serve as recommendations for laboratories initiating studies involving targeting of the lymphatic vasculature, and aim to promote uniformity in lineage tracing and functional studies within the lymphatic vascular field.</p>","PeriodicalId":94228,"journal":{"name":"The International journal of developmental biology","volume":" ","pages":"189-198"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142038076","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"DUX4, the rockstar of embryonic genome activation?","authors":"Sonja Nykänen, Sanna Vuoristo","doi":"10.1387/ijdb.230247sn","DOIUrl":"10.1387/ijdb.230247sn","url":null,"abstract":"<p><p>During the initial days of development, the embryo gradually shifts from reliance on maternally provided RNAs and proteins to regulation of its own development. This transition is marked by embryonic genome activation (EGA). While the factors driving human EGA remain poorly characterized, accumulating evidence suggests that double homeobox 4 (DUX4) is an important regulator of this process. Despite advances in single-cell methods which have allowed studies in early human embryos, fundamental questions regarding the function and regulation of DUX4 persist. Here, we review current knowledge of DUX4 with a focus on EGA in humans.</p>","PeriodicalId":94228,"journal":{"name":"The International journal of developmental biology","volume":" ","pages":"161-168"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141072389","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Verdiana Papagno, Ana-Marija Sulic, Jyoti P Satta, Aida Kaffash Hoshiar, Vinod Kumar, Jukka Jernvall, Marja L Mikkola
{"title":"Wnt target gene Ascl4 is dispensable for skin appendage development.","authors":"Verdiana Papagno, Ana-Marija Sulic, Jyoti P Satta, Aida Kaffash Hoshiar, Vinod Kumar, Jukka Jernvall, Marja L Mikkola","doi":"10.1387/ijdb.240007vp","DOIUrl":"10.1387/ijdb.240007vp","url":null,"abstract":"<p><p>The development of skin appendages, including hair follicles, teeth and mammary glands is initiated through the formation of the placode, a local thickening of the epithelium. The Wnt/β-catenin signaling cascade is an evolutionary conserved pathway with an essential role in placode morphogenesis, but its downstream targets and their exact functions remain ill defined. In this study, we identify <i>Achaete-scute complex-like 4</i> (<i>Ascl4</i>) as a novel target of the Wnt/β-catenin pathway and demonstrate its expression pattern in the signaling centers of developing hair follicles and teeth. Ascl transcription factors belong to the superfamily of basic helix-loop-helix transcriptional regulators involved in cell fate determination in many tissues. However, their specific role in the developing skin remains largely unknown. We report that <i>Ascl4</i> null mice have no overt phenotype. Absence of Ascl4 did not impair hair follicle morphogenesis or hair shaft formation suggesting that it is non-essential for hair follicle development. No tooth or mammary gland abnormalities were detected either. We suggest that other transcription factors may functionally compensate for the absence of Ascl4, but further research is warranted to assess this possibility.</p>","PeriodicalId":94228,"journal":{"name":"The International journal of developmental biology","volume":" ","pages":"231-239"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141072393","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Developmental relationship between junctional epithelium and epithelial rests of Malassez.","authors":"Shubo Li, Shufang Li, Mingguo Cao","doi":"10.1387/ijdb.230243sl","DOIUrl":"https://doi.org/10.1387/ijdb.230243sl","url":null,"abstract":"<p><p><i>Keratin 17</i> (K17) is thought to be a candidate target gene for regulation by Lymphoid Enhancer Factor-1 (Lef-1)<i>.</i> K17 is a marker that distinguishes junctional epithelium (JE) from epithelial rests of Malassez (ERM). However, the relationship of Lef-1 to K17 is not clear in this context. Moreover, the expression of other keratins such as K5, K6, K7 and K16 is not reported. Therefore, the aim of our study was to assay the expression of K5, K6, K7, K14, K16, K17 and Lef-1 in postnatal developing teeth, and clarify the corresponding immunophenotypes of the JE and ERM. Upper jaws of Wistar rats aged from postnatal (PN) day 3.5 to PN21 were used and processed for immunohistochemistry. K5 and K14 were intensely expressed in inner enamel epithelium (IEE), reduced enamel epithelium (REE), ERM and JE. There was no staining for K16 in the tissue, except for strong staining in the oral epithelium. Specifically, at PN3.5 and PN7, K17 was initially strongly expressed and then negative in the IEE. At PN16 and PN21, both REE and ERM were strongly stained for K17, whereas K17 was negative in the JE. In addition, K6, K7 and Lef-1 were not detected in any tissue investigated. REE and ERM have an identical keratin expression pattern before eruption, while JE differs from ERM in the expression of K17 after eruption. The expression of K17 does not coincide with that of Lef-1. These data indicate that JE has a unique phenotype different from ERM, which is of odontogenic origin.</p>","PeriodicalId":94228,"journal":{"name":"The International journal of developmental biology","volume":"68 1","pages":"39-45"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140873140","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}