Department of Biological Sciences, Western Michigan University, Kalamazoo, Michigan 49008
Department of Biological Sciences, Western Michigan University, Kalamazoo, Michigan 49008.
Genetics. 2018 Dec;210(4):1391-1409. doi: 10.1534/genetics.118.301692. Epub 2018 Oct 25.
Cadherins are cell adhesion molecules that regulate numerous adhesive interactions during embryonic development and adult life. Consistent with these functions, when their expression goes astray cells lose their normal adhesive properties resulting in defective morphogenesis, disease, and even metastatic cancer. In general, classical cadherins exert their effect by homophilic interactions via their five characteristic extracellular (EC) repeats. The EC1 repeat provides the mechanism for cadherins to dimerize with each other whereas the EC2 repeat may facilitate dimerization. Less is known about the other EC repeats. Here, we show that a zebrafish missense mutation in the EC5 repeat of N-cadherin is a dominant gain-of-function mutation and demonstrate that this mutation alters cell adhesion almost to the same degree as a zebrafish missense mutation in the EC1 repeat of N-cadherin. We also show that zebrafish E- and N-cadherin dominant gain-of-function missense mutations genetically interact. Perturbation of cell adhesion in embryos that are heterozygous mutant at both loci is similar to that observed in single homozygous mutants. Introducing an E-cadherin EC5 missense allele into the homozygous N-cadherin EC1 missense mutant more radically affects morphogenesis, causing synergistic phenotypes consistent with interdependent functions being disrupted. Our studies indicate that a functional EC5 repeat is critical for cadherin-mediated cell affinity, suggesting that its role may be more important than previously thought. These results also suggest the possibility that E- and N-cadherin have heterophilic interactions during early morphogenesis of the embryo; interactions that might help balance the variety of cell affinities needed during embryonic development.
钙黏蛋白是细胞黏附分子,在胚胎发育和成年期调节多种黏附相互作用。与其功能一致,当它们的表达出错时,细胞会失去正常的黏附特性,导致形态发生缺陷、疾病,甚至转移性癌症。一般来说,经典钙黏蛋白通过其五个特征性的细胞外(EC)重复通过同种型相互作用发挥作用。EC1 重复为钙黏蛋白彼此二聚化提供了机制,而 EC2 重复可能促进二聚化。关于其他 EC 重复,人们知之甚少。在这里,我们展示了斑马鱼钙黏蛋白 EC5 重复中的一个错义突变是一个显性获得性功能突变,并证明该突变改变细胞黏附的程度几乎与斑马鱼钙黏蛋白 EC1 重复中的一个错义突变相同。我们还表明,斑马鱼 E-和 N-钙黏蛋白的显性获得性功能错义突变在遗传上相互作用。在两个突变基因杂合的胚胎中,细胞黏附的扰乱与在单个纯合突变体中观察到的相似。将 E-钙黏蛋白 EC5 错义等位基因引入纯合 N-钙黏蛋白 EC1 错义突变体中,更激进地影响形态发生,导致协同表型,表明相互依赖的功能被破坏。我们的研究表明,功能性 EC5 重复对钙黏蛋白介导的细胞亲和力至关重要,这表明其作用可能比以前认为的更为重要。这些结果还表明,在胚胎早期形态发生过程中,E-和 N-钙黏蛋白可能具有异源相互作用;这些相互作用可能有助于平衡胚胎发育过程中所需的各种细胞亲和力。