Journal of Developmental Biology

38 pages, 2163 KiB

Open AccessReview

Utilizing C. elegans Spermatogenesis and Fertilization Mutants as a Model for Human Disease

by Sofia M. Perez, Helena S. Augustineli and Matthew R. Marcello

J. Dev. Biol. 2025, 13(1), 4; https://doi.org/10.3390/jdb13010004 - 25 Jan 2025

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The nematode C. elegans is a proven model for identifying genes involved in human disease, and the study of C. elegans reproduction, specifically spermatogenesis and fertilization, has led to significant contributions to our understanding of cellular function. Approximately 70 genes have been identified in C. elegans that control spermatogenesis and fertilization (spe and fer mutants). This review focuses on eight genes that have human orthologs with known pathogenic phenotypes. Using C. elegans to study these genes has led to critical developments in our understanding of protein domain function and human disease, including understanding the role of OTOF (the ortholog of C. elegans fer-1) in hearing loss, the contribution of the spe-39 ortholog VIPAS39 in vacuolar protein sorting, and the overlapping functions of spe-26 and KLHL10 in spermatogenesis. We discuss the cellular function of both the C. elegans genes and their human orthologs and the impact that C. elegans mutants and human variants have on cellular function and physiology. Utilizing C. elegans to understand the function of the genes reviewed here, and additional understudied and undiscovered genes, represents a unique opportunity to understand the function of variants that could lead to better disease diagnosis and clinical decision making. Full article

(This article belongs to the Special Issue Caenorhabditis elegans – a Model for Understanding Development and Disease)

17 pages, 5922 KiB

Open AccessArticle

Neuronal Populations Involved in Motor Function Show Prominent Expression of Sbno1 During Postnatal Brain Development

by Sunjidmaa Zolzaya, Dai Ihara, Munkhsoyol Erkhembaatar, Shinsuke Ochiai, Ayaka Isa, Mariko Nishibe, Jean-Pierre Bellier, Takahiro Shimizu, Satoshi Kikkawa, Ryo Nitta and Yu Katsuyama

J. Dev. Biol. 2025, 13(1), 3; https://doi.org/10.3390/jdb13010003 - 21 Jan 2025

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Abstract

Human genome studies have suggested that strawberry notch homologue 1 (SBNO1) is crucial for normal brain development, with mutations potentially contributing to neurodevelopmental disorders. In a previous study, we observed significant developmental abnormalities in the neocortex of Sbno1 as early as one week after birth. In the present study, we conducted an extensive analysis of Sbno1 postnatal expression in the brain of C57BL/6 mice using a newly developed in-house polyclonal antibody against Sbno1. We found that Sbno1 is expressed in all neurons, with certain neuronal populations exhibiting distinct dynamic changes (both temporal and spatial) in expression level. These findings suggest that the neuronal expression of Sbno1 is developmentally regulated after birth. They also indicate that while Sbno1 may play a general role across all neurons, it may also serve more specialized functions in certain neuronal types and/or for certain cellular activities related to particular neuronal pathways. Full article

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12 pages, 3607 KiB

Open AccessPerspective

Regeneration, Regengrow and Tissue Repair in Animals: Evolution Indicates That No Regeneration Occurs in Terrestrial Environments but Only Recovery Healing

by Lorenzo Alibardi

J. Dev. Biol. 2025, 13(1), 2; https://doi.org/10.3390/jdb13010002 - 30 Dec 2024

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Abstract

The present, brief review paper summarizes previous studies on a new interpretation of the presence and absence of regeneration in invertebrates and vertebrates. Broad regeneration is considered exclusive of aquatic or amphibious animals with larval stages and metamorphosis, where also a patterning process is activated for whole-body regeneration or for epimorphosis. In contrast, terrestrial invertebrates and vertebrates can only repair injury or the loss of body parts through a variable “recovery healing” of tissues, regengrow or scarring. This loss of regeneration likely derives from the change in genomes during land adaptation, which included the elimination of larval stages and intense metamorphosis. The terrestrial conditions are incompatible with the formation of embryonic organs that are necessary for broad regeneration. In fact, no embryonic organ can survive desiccation, intense UV or ROS exposition on land, and rapid reparative processes without embryonic patterning, such as recovery healing and scarring, have replaced broad regeneration in terrestrial species. The loss of regeneration in land animals likely depends on the alteration of developmental gene pathways sustaining regeneration that occurred in progenitor marine animals. Terrestrial larval stages, like those present in insects among arthropods, only metamorphose using small body regions indicated as imaginal disks, a terrestrial adaptation, not from a large restructuring process like in aquatic-related animals. These invertebrates can reform body appendages only during molting, a process indicated as regengrow, not regeneration. Most amniotes only repair injuries through scarring or a variable recovery healing, occasionally through regengrow, the contemporaneous healing in conjunction with somatic growth, forming sometimes new heteromorphic organs. Full article

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14 pages, 13723 KiB

Open AccessArticle

Mesenchymal Traits as an Intrinsic Feature of Undifferentiated Cells

by Mirco Galiè

J. Dev. Biol. 2025, 13(1), 1; https://doi.org/10.3390/jdb13010001 - 24 Dec 2024

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Abstract

Since its first conceptualization over a century ago, the mesenchymal phenotype has traditionally been viewed as either a transient phase between successive epithelial stages or as a feature of cell types primarily devoted to structural support. However, recent findings in cancer research challenge this limited view, demonstrating that mesenchymal traits and hybrid mesenchymal/epithelial states can mark cancer cells with stem cell properties. By analyzing publicly available single-cell transcriptome datasets from early embryonic stages and adult tissues, this study aims to extend this concept beyond pathological contexts, suggesting that a partial or fully mesenchymal phenotype may represent the morphological expression of undifferentiated and multipotent states in both the developing embryo and adult organs. Full article

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J. Dev. Biol., Volume 13, Issue 1 (March 2025) – 4 articles

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