Department of Environmental Health Sciences, Yale School of Public Health, 60 College St, New Haven, CT, 06520, USA.
Stanley Manne Research Institute, Lurie Children's Hospital, Chicago, IL, 60611, USA.
Hum Genomics. 2019 Dec 3;13(1):61. doi: 10.1186/s40246-019-0248-9.
Retinoic acid (RA) is a potent morphogen required for embryonic development. RA is formed in a multistep process from vitamin A (retinol); RA acts in a paracrine fashion to shape the developing eye and is essential for normal optic vesicle and anterior segment formation. Perturbation in RA-signaling can result in severe ocular developmental diseases-including microphthalmia, anophthalmia, and coloboma. RA-signaling is also essential for embryonic development and life, as indicated by the significant consequences of mutations in genes involved in RA-signaling. The requirement of RA-signaling for normal development is further supported by the manifestation of severe pathologies in animal models of RA deficiency-such as ventral lens rotation, failure of optic cup formation, and embryonic and postnatal lethality. In this review, we summarize RA-signaling, recent advances in our understanding of this pathway in eye development, and the requirement of RA-signaling for embryonic development (e.g., organogenesis and limb bud development) and life.
视黄酸（RA）是胚胎发育所必需的一种强效形态发生素。RA 由维生素 A（视黄醇）经多步合成而来；RA 以旁分泌的方式作用于正在发育的眼睛，对正常视囊泡和前段形成至关重要。RA 信号转导的扰动可导致严重的眼部发育疾病，包括小眼症、无眼症和脉络膜裂。RA 信号转导对胚胎发育和生命也是必需的，这表明参与 RA 信号转导的基因突变会产生重大后果。RA 信号转导对正常发育的要求还得到了 RA 缺乏动物模型中严重病理表现的支持，例如腹侧晶状体旋转、视杯形成失败以及胚胎和产后致死性。在这篇综述中，我们总结了 RA 信号转导，以及我们最近对这一途径在眼部发育中的理解，还总结了 RA 信号转导对胚胎发育（例如器官发生和肢芽发育）和生命的要求。
