Restoration of polr1c in Early Embryogenesis Rescues the Type 3 Treacher Collins Syndrome Facial Malformation Phenotype in Zebrafish
| Autor: | Jeff Cheuk Hin Ho, May Su You, William Ka Fai Tse, Yun Jin Jiang, Marco Chi Chung Lau, Ernest Man Lok Kwong |
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| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Time Factors Morpholino Embryonic Development Biology Morpholinos Pathology and Forensic Medicine Pathogenesis 03 medical and health sciences medicine Animals Craniofacial Zebrafish Regulation of gene expression Genetics Fetal Therapies Cell Death fungi Gene Expression Regulation Developmental Neural crest DNA-Directed RNA Polymerases Genetic Therapy Genes p53 medicine.disease biology.organism_classification Phenotype Cell biology Disease Models Animal 030104 developmental biology Neural Crest Face Treacher Collins syndrome Mandibulofacial Dysostosis |
| Zdroj: | The American Journal of Pathology. 188:336-342 |
| ISSN: | 0002-9440 |
| Popis: | Treacher Collins syndrome (TCS) is a rare congenital birth disorder (1 in 50,000 live births) characterized by severe craniofacial defects. Recently, the authors' group unfolded the pathogenesis of polr1c Type 3 TCS by using the zebrafish model. Facial development depends on the neural crest cells, in which polr1c plays a role in regulating their expression. In this study, the authors aimed to identify the functional time window of polr1c in TCS by the use of photo-morpholino to restore the polr1c expression at different time points. Results suggested that the restoration of polr1c at 8 hours after fertilization could rescue the TCS facial malformation phenotype by correcting the neural crest cell expression, reducing the cell death, and normalizing the p53 mRNA expression level in the rescued morphants. However, such recovery could not be reproduced if the polr1c is restored after 30 hours after fertilization. |
| Databáze: | OpenAIRE |
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