Notch signaling controls multiple aspects of embryonic development and adult homeostasis. Alagille syndrome is usually caused by a single mutation in the jagged canonical Notch ligand 1 (JAG1), and manifests with liver disease and cardiovascular symptoms that are a direct consequence of JAG1 haploinsufficiency. Recent insights into Jag1/Notch-controlled developmental and homeostatic processes explain how pathology develops in the hepatic and cardiovascular systems and, together with recent elucidation of mechanisms modulating liver regeneration, provide a basis for therapeutic efforts. Importantly, disease presentation can be regulated by genetic modifiers, that may also be therapeutically leverageable. Here, we summarize recent insights into how Jag1 controls processes of relevance to Alagille syndrome, focused on Jag1/Notch functions in hepatic and cardiovascular development and homeostasis.

Notch 信号控制胚胎发育和成人稳态的多个方面。Alagille 综合征通常由锯齿状规范 Notch 配体 1 ( JAG1 )的单一突变引起，并表现为肝病和心血管症状，这是JAG1单倍体不足的直接后果。最近对 Jag1/Notch 控制的发育和稳态过程的见解解释了肝脏和心血管系统中的病理学如何发展，并与最近对调节肝脏再生的机制的阐明一起，为治疗工作提供了基础。重要的是，疾病的表现可以通过基因修饰剂来调节，这也可能在治疗上发挥作用。在这里，我们总结了 Jag1 如何控制与 Alagille 综合征相关过程的最新见解，重点关注 Jag1/Notch 在肝脏和心血管发育和稳态中的功能。