Ganjawala Tushar H, Hsiao Erin, Amom Prativa, Molaei Radmehr, Goodwin Samantha, Zacharias Amanda L
Divisions of Pulmonary Biology and Developmental Biology, Perinatal Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
Department of Pediatrics, University of Cincinnati College of Medicine, University of Cincinnati, Cincinnati, OH 45267, USA.
Genetics. 2025 Jun 4;230(2). doi: 10.1093/genetics/iyaf054.
Successful cell migration followed by cell adhesion and tissue remodeling is required for organogenesis in a number of tissues, many of which are susceptible to gene-environment interactions resulting in congenital anomalies. In Caenorhabditis elegans embryogenesis, one such event is the closure of the ventral cleft, an essential first step in morphogenesis; this process depends on ephrin signaling, but no single gene mutation is fully penetrant embryonic lethal, likely due to redundancy with semaphorin and Robo signaling. We exposed hermaphrodites mutant for vab-1, the C. elegans ephrin receptor, to various environmental conditions and found vitamin B12 supplementation could partially rescue the embryonic lethality of multiple alleles, improving survival by 58%. Vitamin B12 improved the frequency of ventral cleft closure by promoting cell positions more similar to wild type and increasing cell migration. We found vitamin B12 partially rescued the embryonic lethality of other ephrin pathway mutants as well as semaphorin and robo mutants, but not mutants with ventral cleft defects due to cell adhesion or cell fate defects. We found rescue by vitamin B12 depends on its functions in both mitochondrial propionic acid breakdown and the one-carbon cycle, and antioxidant treatment can also partially rescue ephrin pathway mutants. These results are distinct from the larval response to vitamin B12, which depends only on the one-carbon cycle, emphasizing the unique metabolism of embryos and particularly the metabolic needs of migrating cells. Overall, our findings highlight the C. elegans embryo as a model system to investigate gene-environment interactions and developmental metabolism.
在许多组织的器官发生过程中,细胞需要先成功迁移,随后进行细胞黏附并进行组织重塑,其中许多组织易受基因-环境相互作用的影响,从而导致先天性异常。在秀丽隐杆线虫胚胎发育过程中,腹侧裂隙闭合就是这样一个事件,它是形态发生的关键第一步;这个过程依赖于 Ephrin 信号传导,但没有单一基因突变会完全导致胚胎致死,这可能是由于与信号素和 Robo 信号存在冗余。我们将秀丽隐杆线虫 Ephrin 受体 vab-1 的突变雌雄同体暴露于各种环境条件下,发现补充维生素 B12 可以部分挽救多个等位基因的胚胎致死性,使存活率提高 58%。维生素 B12 通过促使细胞位置更接近野生型并增加细胞迁移,提高了腹侧裂隙闭合的频率。我们发现维生素 B12 也部分挽救了其他 Ephrin 信号通路突变体以及信号素和 robo 突变体的胚胎致死性,但对因细胞黏附或细胞命运缺陷导致腹侧裂隙缺陷的突变体无效。我们发现维生素 B12 的挽救作用依赖于其在线粒体丙酸分解和一碳循环中的功能,抗氧化剂处理也可以部分挽救 Ephrin 信号通路突变体。这些结果与幼虫对维生素 B12 的反应不同,后者仅依赖于一碳循环,这突出了胚胎独特的代谢,特别是迁移细胞的代谢需求。总体而言,我们的研究结果突出了秀丽隐杆线虫胚胎作为研究基因-环境相互作用和发育代谢的模型系统。