Department of Surgery, Weill Cornell Medicine, New York, NY 10065, USA.
Weill Cornell Graduate School of Medical Sciences, New York, NY 10065, USA.
Development. 2024 Sep 1;151(17). doi: 10.1242/dev.202895. Epub 2024 Sep 2.
Mutations in GATA6 are associated with congenital heart disease, most notably conotruncal structural defects. However, how GATA6 regulates cardiac morphology during embryogenesis is undefined. We used knockout and conditional mutant zebrafish alleles to investigate the spatiotemporal role of gata6 during cardiogenesis. Loss of gata6 specifically impacts atrioventricular valve formation and recruitment of epicardium, with a prominent loss of arterial pole cardiac cells, including those of the ventricle and outflow tract. However, there are no obvious defects in cardiac progenitor cell specification, proliferation or death. Conditional loss of gata6 starting at 24 h is sufficient to disrupt the addition of late differentiating cardiomyocytes at the arterial pole, with decreased expression levels of anterior secondary heart field (SHF) markers spry4 and mef2cb. Conditional loss of gata6 in the endoderm is sufficient to phenocopy the straight knockout, resulting in a significant loss of ventricular and outflow tract tissue. Exposure to a Dusp6 inhibitor largely rescues the loss of ventricular cells in gata6-/- larvae. Thus, gata6 functions in endoderm are mediated by FGF signaling to regulate the addition of anterior SHF progenitor derivatives during heart formation.
GATA6 基因突变与先天性心脏病有关,尤其是圆锥动脉干结构缺陷。然而,GATA6 在胚胎发生过程中如何调节心脏形态尚不清楚。我们使用敲除和条件性突变斑马鱼等位基因来研究 gata6 在心脏发生过程中的时空作用。gata6 的缺失特异性地影响房室瓣的形成和心外膜的募集,动脉极心脏细胞明显缺失,包括心室和流出道的细胞。然而,在心脏祖细胞的特化、增殖或死亡方面没有明显的缺陷。从 24 小时开始,条件性缺失 gata6 足以破坏动脉极晚期分化的心肌细胞的添加,导致前次级心脏场(SHF)标记物 spry4 和 mef2cb 的表达水平降低。内胚层中 gata6 的条件性缺失足以模拟完全敲除,导致心室和流出道组织的显著缺失。Dusp6 抑制剂的暴露在很大程度上挽救了 gata6-/- 幼虫中心室细胞的缺失。因此,gata6 在 内胚层中的功能是通过 FGF 信号传导来调节心脏形成过程中前 SHF 祖细胞衍生物的添加。