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      Transgenic animal models of congenital diaphragmatic hernia: a comprehensive overview of candidate genes and signaling pathways

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          Abstract

          Congenital diaphragmatic hernia (CDH) is a relatively common and life-threatening birth defect, characterized by incomplete formation of the diaphragm. Because CDH herniation occurs at the same time as preacinar airway branching, normal lung development becomes severely disrupted, resulting almost invariably in pulmonary hypoplasia. Despite various research efforts over the past decades, the pathogenesis of CDH and associated lung hypoplasia remains poorly understood. With the advent of molecular techniques, transgenic animal models of CDH have generated a large number of candidate genes, thus providing a novel basis for future research and treatment. This review article offers a comprehensive overview of genes and signaling pathways implicated in CDH etiology, whilst also discussing strengths and limitations of transgenic animal models in relation to the human condition.

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          WT-1 is required for early kidney development.

          Jordan Kreidberg, Hannu Sariola, Janet M. Loring … (1993)
          In humans, germline mutations of the WT-1 tumor suppressor gene are associated with both Wilms' tumors and urogenital malformations. To develop a model system for the molecular analysis of urogenital development, we introduced a mutation into the murine WT-1 tumor suppressor gene by gene targeting in embryonic stem cells. The mutation resulted in embryonic lethality in homozygotes, and examination of mutant embryos revealed a failure of kidney and gonad development. Specifically, at day 11 of gestation, the cells of the metanephric blastema underwent apoptosis, the ureteric bud failed to grow out from the Wolffian duct, and the inductive events that lead to formation of the metanephric kidney did not occur. In addition, the mutation caused abnormal development of the mesothelium, heart, and lungs. Our results establish a crucial role for WT-1 in early urogenital development.
          Article 0 comments Cited 234 times – based on 0 reviews     Review now
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            Essential role for the c-met receptor in the migration of myogenic precursor cells into the limb bud.

            F Bladt, D Riethmacher, S. Isenmann … (1995)
            Limb muscles develop from cells that migrate from the somites. The signal that induces migration of myogenic precursor cells to the limb emanates from the mesenchyme of the limb bud. Here we report that the c-met-encoded receptor tyrosine kinase is essential for migration of myogenic precursor cells into the limb anlage and for migration into diaphragm and tip of tongue. In c-met homozygous mutant (-/-) mouse embryos, the limb bud and diaphragm are not colonized by myogenic precursor cells and, as a consequence, skeletal muscles of the limb and diaphragm do not form. In contrast, development of the axial skeletal muscles proceeds in the absence of c-met signalling. The specific ligand of the c-met protein, the motility and growth factor scatter factor/hepatocyte growth factor, is expressed in limb mesenchyme and can thus provide the signal for migration which is received by c-met. We have therefore identified a paracrine signalling system that regulates migration of myogenic precursor cells.
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              Fibroblast growth factor 10 (FGF10) and branching morphogenesis in the embryonic mouse lung.

              S Bellusci, J Grindley, H Emoto … (1997)
              During mouse lung morphogenesis, the distal mesenchyme regulates the growth and branching of adjacent endoderm. We report here that fibroblast growth factor 10 (Fgf10) is expressed dynamically in the mesenchyme adjacent to the distal buds from the earliest stages of lung development. The temporal and spatial pattern of gene expression suggests that Fgf10 plays a role in directional outgrowth and possibly induction of epithelial buds, and that positive and negative regulators of Fgf10 are produced by the endoderm. In transgenic lungs overexpressing Shh in the endoderm, Fgf10 transcription is reduced, suggesting that high levels of SHH downregulate Fgf10. Addition of FGF10 to embryonic day 11.5 lung tissue (endoderm plus mesenchyme) in Matrigel or collagen gel culture elicits a cyst-like expansion of the endoderm after 24 hours. In Matrigel, but not collagen, this is followed by extensive budding after 48-60 hours. This response involves an increase in the rate of endodermal cell proliferation. The activity of FGF1, FGF7 and FGF10 was also tested directly on isolated endoderm in Matrigel culture. Under these conditions, FGF1 elicits immediate endodermal budding, while FGF7 and FGF10 initially induce expansion of the endoderm. However, within 24 hours, samples treated with FGF10 give rise to multiple buds, while FGF7-treated endoderm never progresses to bud formation, at all concentrations of factor tested. Although exogenous FGF1, FGF7 and FGF10 have overlapping activities in vitro, their in vivo expression patterns are quite distinct in relation to early branching events. We conclude that, during early lung development, localized sources of FGF10 in the mesoderm regulate endoderm proliferation and bud outgrowth.
              Article 0 comments Cited 185 times – based on 0 reviews     Review now
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                Author and article information

                Contributors
                Florian Friedmacher:
                ORCID: http://orcid.org/0000-0002-7900-6004
                Florian.Friedmacher@nhs.net
                Journal
                Journal ID (nlm-ta): Pediatr Surg Int
                Journal ID (iso-abbrev): Pediatr. Surg. Int
                Title: Pediatric Surgery International
                Publisher: Springer Berlin Heidelberg (Berlin/Heidelberg )
                ISSN (Print): 0179-0358
                ISSN (Electronic): 1437-9813
                Publication date (Electronic): 26 June 2020
                Publication date PMC-release: 26 June 2020
                Publication date (Print): 2020
                Volume: 36
                Issue: 9
                Pages: 991-997
                Affiliations
                [1 ]GRID grid.417322.1, ISNI 0000 0004 0516 3853, National Children’s Research Centre, Our Lady’s Children’s Hospital, ; Dublin, Ireland
                [2 ]GRID grid.410783.9, ISNI 0000 0001 2172 5041, Department of Pediatric Surgery, , Kansai Medical University, ; Osaka, Japan
                [3 ]GRID grid.7886.1, ISNI 0000 0001 0768 2743, Beacon Hospital, University College Dublin, ; Dublin, Ireland
                [4 ]Department of Pediatric Surgery, University Hospital Frankfurt, Goethe University Frankfurt, Theodor-Stern-Kai 7, 60590 Frankfurt am Main, Germany
                Author information
                http://orcid.org/0000-0002-7900-6004
                Article
                Publisher ID: 4705
                DOI: 10.1007/s00383-020-04705-0
                PMC ID: 7385019
                PubMed ID: 32591848
                SO-VID: 5285e27e-8364-45b2-81a5-d5dbe053a8ea
                Copyright © © The Author(s) 2020
                License:

                Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.

                History
                Date accepted : 17 June 2020
                Categories
                Subject: Review Article
                Custom metadata
                issue-copyright-statement © Springer-Verlag GmbH Germany, part of Springer Nature 2020

                ScienceOpen disciplines: Pediatrics
                Keywords: congenital diaphragmatic hernia,pulmonary hypoplasia,lung development,pulmonary hypertension,transgenic mice,retinoic acid
                Data availability:
                ScienceOpen disciplines: Pediatrics
                Keywords: congenital diaphragmatic hernia, pulmonary hypoplasia, lung development, pulmonary hypertension, transgenic mice, retinoic acid

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