Restoration of polr1c in Early Embryogenesis Rescues the Type 3 Treacher Collins Syndrome Facial Malformation Phenotype in Zebrafish

Ernest Man Lok Kwong, Jeff Cheuk Hin Ho, Marco Chi Chung Lau, May Su You, Yun Jin Jiang, Ka Fai William Tse

研究成果: ジャーナルへの寄稿記事

抄録

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.

元の言語英語
ページ(範囲)336-342
ページ数7
ジャーナルAmerican Journal of Pathology
188
発行部数2
DOI
出版物ステータス出版済み - 2 1 2018

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Mandibulofacial Dysostosis
Zebrafish
Embryonic Development
Phenotype
Neural Crest
Fertilization
Morpholinos
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Live Birth
Cell Death
Parturition
Messenger RNA

All Science Journal Classification (ASJC) codes

  • Pathology and Forensic Medicine

これを引用

Restoration of polr1c in Early Embryogenesis Rescues the Type 3 Treacher Collins Syndrome Facial Malformation Phenotype in Zebrafish. / Kwong, Ernest Man Lok; Ho, Jeff Cheuk Hin; Lau, Marco Chi Chung; You, May Su; Jiang, Yun Jin; Tse, Ka Fai William.

:: American Journal of Pathology, 巻 188, 番号 2, 01.02.2018, p. 336-342.

研究成果: ジャーナルへの寄稿記事

Kwong, Ernest Man Lok ; Ho, Jeff Cheuk Hin ; Lau, Marco Chi Chung ; You, May Su ; Jiang, Yun Jin ; Tse, Ka Fai William. / Restoration of polr1c in Early Embryogenesis Rescues the Type 3 Treacher Collins Syndrome Facial Malformation Phenotype in Zebrafish. :: American Journal of Pathology. 2018 ; 巻 188, 番号 2. pp. 336-342.
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abstract = "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.",
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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, Ka Fai William

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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.

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