rad21 Is Involved in Corneal Stroma Development by Regulating Neural Crest Migration.
rad21 Is Involved in Corneal Stroma Development by Regulating Neural Crest Migration.
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rad21 通过调节神经嵴迁移参与角膜基质发育
DOI：
10.3390/ijms21207807
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发表时间：
2020-10-21
影响因子：
5.6
通讯作者：
Chu WK
中科院分区：
文献类型：
--
作者：
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
之前，我们从周围性硬结性角膜谱系中鉴定出RAD21R450C。将该rad21变异mRNA注射到非洲爪蟾胚胎中，破坏了角膜间质原纤维的组织。为了了解rad21介导的角膜基质缺陷的机制，我们对周围性硬结性角膜家族成员的细胞进行了基因表达和染色体构象分析。在携带rad21杂合变异的细胞中，细胞粘附基因的基因表达和染色体构象均受到影响。由于细胞迁移在早期胚胎发育中是必不可少的，而硬角膜是一种先天性疾病，我们研究了青松胚胎角膜发育过程中的神经嵴迁移。注射rad21突变体mRNA后，神经嵴迁移被破坏，角膜间质区神经嵴源性眼周间质数量明显减少。我们的数据表明，RAD21R450C变异通过改变染色体构象和基因表达，从而干扰神经嵴细胞的迁移，从而有助于周围性角膜硬化，这表明RAD21在角膜基质发育中起关键作用。
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.
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影响因子：
3.5
作者：
Dekker J;Heard E
通讯作者：
Heard E
影响因子：
4.4
作者：
Fan BJ;Chen X;Sondhi N;Sharmila PF;Soumittra N;Sripriya S;Sacikala S;Asokan R;Friedman DS;Pasquale LR;Gao XR;Vijaya L;Cooke Bailey J;Vitart V;MacGregor S;Hammond CJ;Khor CC;Haines JL;George R;Wiggs JL;Mexican American Glaucoma Genetic Study; International Glaucoma Genetics Consortium; and NEIGHBORHOOD Consortium
通讯作者：
Mexican American Glaucoma Genetic Study; International Glaucoma Genetics Consortium; and NEIGHBORHOOD Consortium
影响因子：
64.8
作者：
Dixon JR;Jung I;Selvaraj S;Shen Y;Antosiewicz-Bourget JE;Lee AY;Ye Z;Kim A;Rajagopal N;Xie W;Diao Y;Liang J;Zhao H;Lobanenkov VV;Ecker JR;Thomson JA;Ren B
通讯作者：
Ren B
影响因子：
2.7
作者：
Huang，Chaolie;Kratzer，Marie-Claire;Kashef，Jubin
通讯作者：
Kashef，Jubin
影响因子：
2.8
作者：
Kojima, Takashi;Chung, Tae-Young;Azar, Dimitri T.
通讯作者：
Azar, Dimitri T.