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Suppression of apoptosis impairs phalangeal joint formation in the pathogenesis of brachydactyly type A1.

التفاصيل البيبلوغرافية
العنوان: Suppression of apoptosis impairs phalangeal joint formation in the pathogenesis of brachydactyly type A1.
المؤلفون: Leung AOW; School of Biomedical Sciences, The University of Hong Kong, Pokfulam, Hong Kong, China., Poon ACH; School of Biomedical Sciences, The University of Hong Kong, Pokfulam, Hong Kong, China., Wang X; School of Biomedical Sciences, The University of Hong Kong, Pokfulam, Hong Kong, China., Feng C; School of Biomedical Sciences, The University of Hong Kong, Pokfulam, Hong Kong, China.; Hebei Orthopedic Clinical Research Center, The Third Hospital of Hebei Medical University, 050051, Shijiazhuang, Hebei, China., Chen P; School of Biomedical Sciences, The University of Hong Kong, Pokfulam, Hong Kong, China.; Department of Orthopaedics Surgery and Traumatology, The University of Hong Kong -Shenzhen Hospital (HKU-SZH), Shenzhen, China., Zheng Z; School of Biomedical Sciences, The University of Hong Kong, Pokfulam, Hong Kong, China., To MK; Department of Orthopaedics Surgery and Traumatology, The University of Hong Kong -Shenzhen Hospital (HKU-SZH), Shenzhen, China.; Department of Orthopaedics and Traumatology, The University of Hong Kong, Pokfulam, Hong Kong, China., Chan WCW; School of Biomedical Sciences, The University of Hong Kong, Pokfulam, Hong Kong, China. cwilson@hku.hk.; Department of Orthopaedics Surgery and Traumatology, The University of Hong Kong -Shenzhen Hospital (HKU-SZH), Shenzhen, China. cwilson@hku.hk., Cheung M; School of Biomedical Sciences, The University of Hong Kong, Pokfulam, Hong Kong, China., Chan D; School of Biomedical Sciences, The University of Hong Kong, Pokfulam, Hong Kong, China. chand@hku.hk.
المصدر: Nature communications [Nat Commun] 2024 Mar 12; Vol. 15 (1), pp. 2229. Date of Electronic Publication: 2024 Mar 12.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE
أسماء مطبوعة: Original Publication: [London] : Nature Pub. Group
مواضيع طبية MeSH: Hedgehog Proteins*/metabolism , Brachydactyly*/genetics , Brachydactyly*/metabolism, Mice ; Animals ; Joints/metabolism ; Apoptosis
مستخلص: Apoptosis occurs during development when a separation of tissues is needed. Synovial joint formation is initiated at the presumptive site (interzone) within a cartilage anlagen, with changes in cellular differentiation leading to cavitation and tissue separation. Apoptosis has been detected in phalangeal joints during development, but its role and regulation have not been defined. Here, we use a mouse model of brachydactyly type A1 (BDA1) with an Ihh E95K mutation, to show that a missing middle phalangeal bone is due to the failure of the developing joint to cavitate, associated with reduced apoptosis, and a joint is not formed. We showed an intricate relationship between IHH and interacting partners, CDON and GAS1, in the interzone that regulates apoptosis. We propose a model in which CDON/GAS1 may act as dependence receptors in this context. Normally, the IHH level is low at the center of the interzone, enabling the "ligand-free" CDON/GAS1 to activate cell death for cavitation. In BDA1, a high concentration of IHH suppresses apoptosis. Our findings provided new insights into the role of IHH and CDON in joint formation, with relevance to hedgehog signaling in developmental biology and diseases.
(© 2024. The Author(s).)
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المشرفين على المادة: 0 (Hedgehog Proteins)
SCR Disease Name: Brachydactyly type A1
تواريخ الأحداث: Date Created: 20240313 Date Completed: 20240314 Latest Revision: 20240316
رمز التحديث: 20240316
مُعرف محوري في PubMed: PMC10933404
DOI: 10.1038/s41467-024-45053-0
PMID: 38472182
قاعدة البيانات: MEDLINE
الوصف
تدمد:2041-1723
DOI:10.1038/s41467-024-45053-0