Preusse Kristina, Cochran Kim, Dai Quanhui, Kopan Raphael
Division of Developmental Biology, Department of Pediatrics, University of Cincinnati College of Medicine and Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, United States of America.
State Key Laboratory of Genetic Engineering, School of Life Sciences, Greater Bay Area Institute of Precision Medicine (Guangzhou), Zhongshan Hospital, Fudan University, Shanghai, China.
PLoS One. 2025 Jan 24;20(1):e0311353. doi: 10.1371/journal.pone.0311353. eCollection 2025.
The Notch intracellular domain (NICD) regulates gene expression during development and homeostasis in a transcription factor complex that binds DNA either as monomer, or cooperatively as dimers. Mice expressing Notch dimerization-deficient (NDD) alleles of Notch1 and Notch2 have defects in multiple tissues that are sensitized to environmental insults. Here, we report that cardiac phenotypes and DSS (Dextran Sodium Sulfate) sensitivity in NDD mice can be ameliorated by housing mice under hypo-allergenic conditions (food/bedding). However, compound heterozygote NDD mice (N1RA/-; N2RA/-) in hypo-allergenic conditions subsequently develop severe hydrocephalus and hemorrhages. Further analysis revealed multiple vascular phenotypes in NDD mice including leakage, malformations of brain vasculature, and vasodilation in kidneys, leading to demise around P21. This mouse model is thus a hypomorphic allele useful to analyze vascular phenotypes and gene-environment interactions. The possibility of a non-canonical Notch signal regulating barrier formation in the gut, skin, and blood systems is discussed.
Notch细胞内结构域(NICD)在发育和体内平衡过程中,通过一种转录因子复合物调节基因表达,该复合物以单体形式或作为二聚体协同结合DNA。表达Notch1和Notch2的Notch二聚化缺陷(NDD)等位基因的小鼠在多个组织中存在缺陷,这些组织对环境损伤敏感。在此,我们报告,将小鼠饲养在低变应原条件(食物/垫料)下,NDD小鼠的心脏表型和对葡聚糖硫酸钠(DSS)的敏感性可以得到改善。然而,处于低变应原条件下的复合杂合子NDD小鼠(N1RA/-;N2RA/-)随后会出现严重的脑积水和出血。进一步分析发现,NDD小鼠存在多种血管表型,包括渗漏、脑血管畸形以及肾脏血管舒张,导致在出生后第21天左右死亡。因此,该小鼠模型是一种用于分析血管表型和基因 - 环境相互作用的次等位基因。本文还讨论了非经典Notch信号调节肠道、皮肤和血液系统屏障形成的可能性。