Publisher Correction: The ciliopathy protein TALPID3/KIAA0586 acts upstream of Rab8 activation in zebrafish photoreceptor outer segment formation and maintenance
| Autor: | Flavia B. Cristian, Irene Ojeda Naharros, Matthias Gesemann, Stephan C.F. Neuhauss, Jingjing Zang, Ruxandra Bachmann-Gagescu, Philip W. Ingham |
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| Přispěvatelé: | University of Zurich, Bachmann-Gagescu, Ruxandra |
| Rok vydání: | 2018 |
| Předmět: |
10039 Institute of Medical Genetics
Cell Survival lcsh:Medicine 610 Medicine & health GTP Phosphohydrolases Electroretinography medicine Animals Photoreceptor Cells Upstream (networking) lcsh:Science Zebrafish 1000 Multidisciplinary Organelle Biogenesis Multidisciplinary Opsins biology lcsh:R Retinal Degeneration Zebrafish Proteins biology.organism_classification medicine.disease Publisher Correction Photoreceptor outer segment 10124 Institute of Molecular Life Sciences Ciliopathies Cell biology Disease Models Animal Ciliopathy ComputingMethodologies_DOCUMENTANDTEXTPROCESSING 570 Life sciences lcsh:Q Mutant Proteins |
| Zdroj: | Scientific Reports Scientific Reports, Vol 8, Iss 1, Pp 1-1 (2018) |
| ISSN: | 2045-2322 |
| DOI: | 10.1038/s41598-018-30671-8 |
| Popis: | Ciliopathies are human disorders caused by dysfunction of primary cilia, ubiquitous microtubule-based organelles involved in signal transduction. Cilia are anchored inside the cell through basal bodies (BBs), modified centrioles also acting as microtubule-organization centers. Photoreceptors (PRs) are sensory neurons, whose primary cilium forms a highly specialized compartment called the outer segment (OS) responsible for sensing incoming light. Thus, ciliopathies often present with retinal degeneration. Mutations in KIAA0586/TALPID3 (TA3) cause Joubert syndrome, in which 30% of affected individuals develop retinal involvement. To elucidate the function of TALPID3 in PRs, we studied talpid3 zebrafish mutants and identified a progressive retinal degeneration phenotype. The majority of PRs lack OS development due to defects in BB positioning and docking at the apical cell surface. Intracellular accumulation of the photopigment opsin leads to PR cell death of moderate severity. Electroretinograms demonstrate severe visual impairement. A small subset of PRs display normally docked BBs and extended OSs through rescue by maternally-deposited Talpid3. While localization of the small GTPase Rab8a, which plays an important role in BB docking, appears unaffected in talpid3-/- PRs, overexpression of constitutively active Rab8a rescues OS formation, indicating that the role of Ta3 in early ciliogenesis lies upstream of Rab8a activation in PRs. |
| Databáze: | OpenAIRE |
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