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dc.contributor.authorZhang, Bi Ning
dc.contributor.authorLiu, Yu
dc.contributor.authorYang, Qichen
dc.contributor.authorLeung, Pui Ying
dc.contributor.authorWang, Chengdong
dc.contributor.authorWong, Thomas Chi Bun
dc.contributor.authorTham, Clement C.
dc.contributor.authorChan, Sun On
dc.contributor.authorPang, Chi Pui
dc.contributor.authorChen, Li Jia
dc.contributor.authorDekker, Job
dc.contributor.authorZhao, Hui
dc.contributor.authorChu, Wai Kit
dc.date2022-08-11T08:09:57.000
dc.date.accessioned2022-08-23T16:50:15Z
dc.date.available2022-08-23T16:50:15Z
dc.date.issued2020-10-21
dc.date.submitted2020-12-11
dc.identifier.citation<p>Zhang BN, Liu Y, Yang Q, Leung PY, Wang C, Wong TCB, Tham CC, Chan SO, Pang CP, Chen LJ, Dekker J, Zhao H, Chu WK. <em>rad21</em> Is Involved in Corneal Stroma Development by Regulating Neural Crest Migration. Int J Mol Sci. 2020 Oct 21;21(20):7807. doi: 10.3390/ijms21207807. PMID: 33096935; PMCID: PMC7594026. <a href="https://doi.org/10.3390/ijms21207807">Link to article on publisher's site</a></p>
dc.identifier.issn1422-0067 (Linking)
dc.identifier.doi10.3390/ijms21207807
dc.identifier.pmid33096935
dc.identifier.urihttp://hdl.handle.net/20.500.14038/41625
dc.description.abstractPreviously, we identified RAD21(R450C) from a peripheral sclerocornea pedigree. Injection of this rad21 variant mRNA into Xenopus laevis embryos disrupted the organization of corneal stroma fibrils. To understand the mechanisms of RAD21-mediated corneal stroma defects, gene expression and chromosome conformation analysis were performed using cells from family members affected by peripheral sclerocornea. Both gene expression and chromosome conformation of cell adhesion genes were affected in cells carrying the heterozygous rad21 variant. Since cell migration is essential in early embryonic development and sclerocornea is a congenital disease, we studied neural crest migration during cornea development in X. laevis embryos. In X. laevis embryos injected with rad21 mutant mRNA, neural crest migration was disrupted, and the number of neural crest-derived periocular mesenchymes decreased significantly in the corneal stroma region. Our data indicate that the RAD21(R450C) variant contributes to peripheral sclerocornea by modifying chromosome conformation and gene expression, therefore disturbing neural crest cell migration, which suggests RAD21 plays a key role in corneal stroma development.
dc.language.isoen_US
dc.relation<p><a href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=Retrieve&list_uids=33096935&dopt=Abstract">Link to Article in PubMed</a></p>
dc.rights© 2020 by the authors. This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.subjectXenopus laevis
dc.subjectcorneal stroma
dc.subjectneural crest migration
dc.subjectrad21
dc.subjectBiochemistry
dc.subjectCell Biology
dc.subjectDevelopmental Biology
dc.subjectEmbryonic Structures
dc.subjectEye Diseases
dc.subjectMolecular Biology
dc.subjectNucleic Acids, Nucleotides, and Nucleosides
dc.subjectStructural Biology
dc.titlerad21 Is Involved in Corneal Stroma Development by Regulating Neural Crest Migration
dc.typeJournal Article
dc.source.journaltitleInternational journal of molecular sciences
dc.source.volume21
dc.source.issue20
dc.identifier.legacyfulltexthttps://escholarship.umassmed.edu/cgi/viewcontent.cgi?article=5445&amp;context=oapubs&amp;unstamped=1
dc.identifier.legacycoverpagehttps://escholarship.umassmed.edu/oapubs/4415
dc.identifier.contextkey20531607
refterms.dateFOA2022-08-23T16:50:15Z
html.description.abstract<p>Previously, we identified RAD21(R450C) from a peripheral sclerocornea pedigree. Injection of this rad21 variant mRNA into Xenopus laevis embryos disrupted the organization of corneal stroma fibrils. To understand the mechanisms of RAD21-mediated corneal stroma defects, gene expression and chromosome conformation analysis were performed using cells from family members affected by peripheral sclerocornea. Both gene expression and chromosome conformation of cell adhesion genes were affected in cells carrying the heterozygous rad21 variant. Since cell migration is essential in early embryonic development and sclerocornea is a congenital disease, we studied neural crest migration during cornea development in X. laevis embryos. In X. laevis embryos injected with rad21 mutant mRNA, neural crest migration was disrupted, and the number of neural crest-derived periocular mesenchymes decreased significantly in the corneal stroma region. Our data indicate that the RAD21(R450C) variant contributes to peripheral sclerocornea by modifying chromosome conformation and gene expression, therefore disturbing neural crest cell migration, which suggests RAD21 plays a key role in corneal stroma development.</p>
dc.identifier.submissionpathoapubs/4415
dc.contributor.departmentDepartment of Biochemistry and Molecular Pharmacology
dc.contributor.departmentProgram in Systems Biology
dc.source.pages7807


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© 2020 by the authors. This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited
Except where otherwise noted, this item's license is described as © 2020 by the authors. This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited