Planar cell polarity defects and defective Vangl2 trafficking in mutants for the COPII gene Sec24b
| Autor: | Mireille Montcouquiol, Frits Meijlink, Edwin Cuppen, Carla Kroon, Harma Feitsma, Carolien Wansleeben |
|---|---|
| Přispěvatelé: | Hubrecht Institute for Developmental Biology and Stem Cell Research |
| Jazyk: | angličtina |
| Rok vydání: | 2010 |
| Předmět: |
Gene isoform
Heart Defects Congenital Male Recombinant Fusion Proteins Mutant Vesicular Transport Proteins Aorta Thoracic Nerve Tissue Proteins Biology SEC24B Mice Cell polarity medicine Animals Humans Neural Tube Defects Molecular Biology COPII Cells Cultured Endoplasmic reticulum Neural tube Intracellular Signaling Peptides and Proteins Cell Polarity Epithelial Cells Fibroblasts Embryo Mammalian Cell biology Cochlea Mice Inbred C57BL medicine.anatomical_structure Organ of Corti Mutation Female Developmental Biology Signal Transduction |
| Zdroj: | Development, 137(7), 1067-1073. Company of Biologists Ltd |
| ISSN: | 0950-1991 |
| Popis: | Among the cellular properties that are essential for the organization of tissues during animal development, the importance of cell polarity in the plane of epithelial sheets has become increasingly clear in the past decades. Planar cell polarity (PCP) signaling in vertebrates has indispensable roles in many aspects of their development, in particular, controlling alignment of various types of epithelial cells. Disrupted PCP has been linked to developmental defects in animals and to human pathology. Neural tube closure defects (NTD) and disorganization of the mechanosensory cells of the organ of Corti are commonly known consequences of disturbed PCP signaling in mammals. We report here a typical PCP phenotype in a mouse mutant for the Sec24b gene, including the severe NTD craniorachischisis, abnormal arrangement of outflow tract vessels and disturbed development of the cochlea. In addition, we observed genetic interaction between Sec24b and the known PCP gene, scribble. Sec24b is a component of the COPII coat protein complex that is part of the endoplasmic reticulum (ER)-derived transport vesicles. Sec24 isoforms are thought to be directly involved in cargo selection, and we present evidence that Sec24b deficiency specifically affects transport of the PCP core protein Vangl2, based on experiments in embryos and in cultured primary cells. |
| Databáze: | OpenAIRE |
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