TY - JOUR
T1 - Restoration of polr1c in Early Embryogenesis Rescues the Type 3 Treacher Collins Syndrome Facial Malformation Phenotype in Zebrafish
AU - Kwong, Ernest Man Lok
AU - Ho, Jeff Cheuk Hin
AU - Lau, Marco Chi Chung
AU - You, May Su
AU - Jiang, Yun Jin
AU - Tse, William Ka Fai
N1 - Supported by the Japan Society for the Promotion of Science Bilateral Open Partnership Joint Research Project AJ179064 (W.K.F.T.), National Health Research Institutes, Taiwan, grants MG-105-PP-12 and MG-106- PP-11, and the Ministry of Science and Technology, Taiwan, grants MOST 105-2311-B-400-001, MOST 106-2319-B-400-002, and MOST 106-2311-B-400-003-MY3 (Y.-J.J.).
Publisher Copyright:
© 2018 American Society for Investigative Pathology. Published by Elsevier Inc.
PY - 2018/2
Y1 - 2018/2
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85044281578&partnerID=8YFLogxK
U2 - 10.1016/j.ajpath.2017.10.004
DO - 10.1016/j.ajpath.2017.10.004
M3 - Journal article
C2 - 29128566
AN - SCOPUS:85044281578
SN - 0002-9440
VL - 188
SP - 336
EP - 342
JO - American Journal of Pathology
JF - American Journal of Pathology
IS - 2
ER -
