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Int J Mol Sci October 21, 2020; 21 (20):
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rad21 Is Involved in Corneal Stroma Development by Regulating Neural Crest Migration.

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 .

Previously, we identified RAD21R450C 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 RAD21R450C 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.

PubMed ID: 33096935
PMC ID: PMC7594026
Article link: Int J Mol Sci
Grant support: [+]

Genes referenced: arhgap44 col24a1 ctcf foxg1 myh6 pitx2 rad21 septin10 tfap2a twist1

Phenotypes: rad21 mut RNA injection [+]

Article Images: [+] show captions
References [+] :
Akaneya, Ephrin-A5 and EphA5 interaction induces synaptogenesis during early hippocampal development. 2010, Pubmed