UMMS Affiliation

Program in Systems Biology; Department of Biochemistry and Molecular Pharmacology

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Document Type



Biochemistry | Cell Biology | Developmental Biology | Embryonic Structures | Eye Diseases | Molecular Biology | Nucleic Acids, Nucleotides, and Nucleosides | Structural Biology


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.


Xenopus laevis, corneal stroma, neural crest migration, rad21

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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

DOI of Published Version



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. rad21 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. Link to article on publisher's site

Journal/Book/Conference Title

International journal of molecular sciences

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Creative Commons License

Creative Commons Attribution 4.0 License
This work is licensed under a Creative Commons Attribution 4.0 License.