Division of Biological Sciences, University of California, San Diego, La Jolla, California.
Dev Dyn. 2019 Dec;248(12):1195-1210. doi: 10.1002/dvdy.106. Epub 2019 Sep 10.
Atrioventricular valve development relies upon the precisely defined dimensions of the atrioventricular canal (AVC). Current models suggest that Wnt signaling plays an important role atop a pathway that promotes AVC development. The factors that confine AVC differentiation to the appropriate location, however, are less well understood.
Transmembrane protein 2 (Tmem2) is a key player in restricting AVC differentiation: in zebrafish, tmem2 mutants display an expansion of AVC characteristics, but the molecular mechanism of Tmem2 function in this context remains unclear. Through structure-function analysis, we demonstrate that the extracellular portion of Tmem2 is crucial for its role in restricting AVC boundaries. Importantly, the Tmem2 ectodomain contains regions implicated in the depolymerization of hyaluronic acid (HA). We find that tmem2 mutant hearts exhibit excess HA deposition alongside broadened distribution of Wnt signaling. Moreover, addition of ectopic hyaluronidase can restore the restriction of AVC differentiation in tmem2 mutants. Finally, we show that alteration of a residue important for HA depolymerization impairs the efficacy of Tmem2 function during AVC development.
Taken together, our data support a model in which HA degradation, regulated by Tmem2, limits the distribution of Wnt signaling and thereby confines the differentiation of the AVC.
房室瓣的发育依赖于房室管(AVC)的精确尺寸。目前的模型表明,Wnt 信号在促进 AVC 发育的途径中起着重要作用。然而,将 AVC 分化限制在适当位置的因素还不太清楚。
跨膜蛋白 2(Tmem2)是限制 AVC 分化的关键因素:在斑马鱼中,tmem2 突变体显示 AVC 特征的扩张,但 Tmem2 在这种情况下的功能的分子机制仍不清楚。通过结构-功能分析,我们证明 Tmem2 的细胞外部分对于其限制 AVC 边界的作用至关重要。重要的是,Tmem2 的细胞外结构域包含与透明质酸(HA)解聚相关的区域。我们发现,tmem2 突变体心脏表现出 HA 沉积过多,同时 Wnt 信号分布广泛。此外,添加外源性透明质酸酶可以恢复 tmem2 突变体中 AVC 分化的限制。最后,我们表明,对 HA 解聚重要的残基的改变会损害 Tmem2 在 AVC 发育过程中的功能效果。
综上所述,我们的数据支持这样一种模型,即透明质酸降解受 Tmem2 调节,限制了 Wnt 信号的分布,从而限制了 AVC 的分化。