Restoration of polr1c in Early Embryogenesis Rescues the Type 3 Treacher Collins Syndrome Facial Malformation Phenotype in Zebrafish
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 ce...
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| Veröffentlicht in: | The American journal of pathology 2018-02, Vol.188 (2), p.336-342 |
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| container_title | The American journal of pathology |
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| creator | Kwong, Ernest Man Lok Ho, Jeff Cheuk Hin Lau, Marco Chi Chung You, May-Su Jiang, Yun-Jin Tse, William Ka Fai |
| description | 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. |
| doi_str_mv | 10.1016/j.ajpath.2017.10.004 |
| format | Article |
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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.</description><identifier>ISSN: 0002-9440</identifier><identifier>EISSN: 1525-2191</identifier><identifier>DOI: 10.1016/j.ajpath.2017.10.004</identifier><identifier>PMID: 29128566</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>Animals ; Cell Death - genetics ; Disease Models, Animal ; DNA-Directed RNA Polymerases - genetics ; DNA-Directed RNA Polymerases - physiology ; Embryonic Development - physiology ; Face - embryology ; Fetal Therapies - methods ; Gene Expression Regulation, Developmental - physiology ; Genes, p53 ; Genetic Therapy - methods ; Mandibulofacial Dysostosis - embryology ; Mandibulofacial Dysostosis - genetics ; Mandibulofacial Dysostosis - pathology ; Mandibulofacial Dysostosis - prevention & control ; Morpholinos ; Neural Crest - metabolism ; Phenotype ; Time Factors ; Zebrafish</subject><ispartof>The American journal of pathology, 2018-02, Vol.188 (2), p.336-342</ispartof><rights>2018 American Society for Investigative Pathology</rights><rights>Copyright © 2018 American Society for Investigative Pathology. 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All rights reserved.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c408t-31d9f289a661f8bd386b5dc0abadbf6055838a7e0e2e2e9ff25c9ad331164f463</citedby><cites>FETCH-LOGICAL-c408t-31d9f289a661f8bd386b5dc0abadbf6055838a7e0e2e2e9ff25c9ad331164f463</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/j.ajpath.2017.10.004$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,780,784,3550,27924,27925,45995</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/29128566$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Kwong, Ernest Man Lok</creatorcontrib><creatorcontrib>Ho, Jeff Cheuk Hin</creatorcontrib><creatorcontrib>Lau, Marco Chi Chung</creatorcontrib><creatorcontrib>You, May-Su</creatorcontrib><creatorcontrib>Jiang, Yun-Jin</creatorcontrib><creatorcontrib>Tse, William Ka Fai</creatorcontrib><title>Restoration of polr1c in Early Embryogenesis Rescues the Type 3 Treacher Collins Syndrome Facial Malformation Phenotype in Zebrafish</title><title>The American journal of pathology</title><addtitle>Am J Pathol</addtitle><description>Treacher Collins syndrome (TCS) is a rare congenital birth disorder (1 in 50,000 live births) characterized by severe craniofacial defects. 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However, such recovery could not be reproduced if the polr1c is restored after 30 hours after fertilization.</description><subject>Animals</subject><subject>Cell Death - genetics</subject><subject>Disease Models, Animal</subject><subject>DNA-Directed RNA Polymerases - genetics</subject><subject>DNA-Directed RNA Polymerases - physiology</subject><subject>Embryonic Development - physiology</subject><subject>Face - embryology</subject><subject>Fetal Therapies - methods</subject><subject>Gene Expression Regulation, Developmental - physiology</subject><subject>Genes, p53</subject><subject>Genetic Therapy - methods</subject><subject>Mandibulofacial Dysostosis - embryology</subject><subject>Mandibulofacial Dysostosis - genetics</subject><subject>Mandibulofacial Dysostosis - pathology</subject><subject>Mandibulofacial Dysostosis - prevention & control</subject><subject>Morpholinos</subject><subject>Neural Crest - metabolism</subject><subject>Phenotype</subject><subject>Time Factors</subject><subject>Zebrafish</subject><issn>0002-9440</issn><issn>1525-2191</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2018</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kE-L1DAYh4Mo7uzqNxDJ0UvH_Gkz6UWQYdYVVhQdL15CmryxGdKmJp2F3v3gZujqUXIIeXl--fE-CL2iZEsJFW9PW32a9NxvGaG7MtoSUj9BG9qwpmK0pU_RhhDCqrauyRW6zvlUnoJL8hxdsZYy2QixQb-_Qp5j0rOPI44OTzEkarAf8UGnsODD0KUl_oQRss-4wOYMGc894OMyAeb4mECbHhLexxD8mPG3ZbQpDoBvtfE64E86uJiGteFLD2OcL8nS8AO6pJ3P_Qv0zOmQ4eXjfYO-3x6O-7vq_vOHj_v395WpiZwrTm3rmGy1ENTJznIpusYaojttOydI00gu9Q4IsHJa51hjWm05p1TUrhb8Br1Z_51S_FX2mNXgs4EQ9AjxnBVtBa93VO5oQesVNSnmnMCpKflBp0VRoi7-1Umt_tXF_2Va_JfY68eGczeA_Rf6K7wA71YAyp4PHpLKxsNowPoEZlY2-v83_AGtl5pa</recordid><startdate>201802</startdate><enddate>201802</enddate><creator>Kwong, Ernest Man Lok</creator><creator>Ho, Jeff Cheuk Hin</creator><creator>Lau, Marco Chi Chung</creator><creator>You, May-Su</creator><creator>Jiang, Yun-Jin</creator><creator>Tse, William Ka Fai</creator><general>Elsevier Inc</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>201802</creationdate><title>Restoration of polr1c in Early Embryogenesis Rescues the Type 3 Treacher Collins Syndrome Facial Malformation Phenotype in Zebrafish</title><author>Kwong, Ernest Man Lok ; Ho, Jeff Cheuk Hin ; Lau, Marco Chi Chung ; You, May-Su ; Jiang, Yun-Jin ; Tse, William Ka Fai</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c408t-31d9f289a661f8bd386b5dc0abadbf6055838a7e0e2e2e9ff25c9ad331164f463</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2018</creationdate><topic>Animals</topic><topic>Cell Death - genetics</topic><topic>Disease Models, Animal</topic><topic>DNA-Directed RNA Polymerases - genetics</topic><topic>DNA-Directed RNA Polymerases - physiology</topic><topic>Embryonic Development - physiology</topic><topic>Face - embryology</topic><topic>Fetal Therapies - methods</topic><topic>Gene Expression Regulation, Developmental - physiology</topic><topic>Genes, p53</topic><topic>Genetic Therapy - methods</topic><topic>Mandibulofacial Dysostosis - embryology</topic><topic>Mandibulofacial Dysostosis - genetics</topic><topic>Mandibulofacial Dysostosis - pathology</topic><topic>Mandibulofacial Dysostosis - prevention & control</topic><topic>Morpholinos</topic><topic>Neural Crest - metabolism</topic><topic>Phenotype</topic><topic>Time Factors</topic><topic>Zebrafish</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Kwong, Ernest Man Lok</creatorcontrib><creatorcontrib>Ho, Jeff Cheuk Hin</creatorcontrib><creatorcontrib>Lau, Marco Chi Chung</creatorcontrib><creatorcontrib>You, May-Su</creatorcontrib><creatorcontrib>Jiang, Yun-Jin</creatorcontrib><creatorcontrib>Tse, William Ka Fai</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>The American journal of pathology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Kwong, Ernest Man Lok</au><au>Ho, Jeff Cheuk Hin</au><au>Lau, Marco Chi Chung</au><au>You, May-Su</au><au>Jiang, Yun-Jin</au><au>Tse, William Ka Fai</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Restoration of polr1c in Early Embryogenesis Rescues the Type 3 Treacher Collins Syndrome Facial Malformation Phenotype in Zebrafish</atitle><jtitle>The American journal of pathology</jtitle><addtitle>Am J Pathol</addtitle><date>2018-02</date><risdate>2018</risdate><volume>188</volume><issue>2</issue><spage>336</spage><epage>342</epage><pages>336-342</pages><issn>0002-9440</issn><eissn>1525-2191</eissn><abstract>Treacher Collins syndrome (TCS) is a rare congenital birth disorder (1 in 50,000 live births) characterized by severe craniofacial defects. 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| subjects | Animals Cell Death - genetics Disease Models, Animal DNA-Directed RNA Polymerases - genetics DNA-Directed RNA Polymerases - physiology Embryonic Development - physiology Face - embryology Fetal Therapies - methods Gene Expression Regulation, Developmental - physiology Genes, p53 Genetic Therapy - methods Mandibulofacial Dysostosis - embryology Mandibulofacial Dysostosis - genetics Mandibulofacial Dysostosis - pathology Mandibulofacial Dysostosis - prevention & control Morpholinos Neural Crest - metabolism Phenotype Time Factors Zebrafish |
| title | Restoration of polr1c in Early Embryogenesis Rescues the Type 3 Treacher Collins Syndrome Facial Malformation Phenotype in Zebrafish |
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