摘　要：早期生长反应因子1（egr1）编码的EGR1蛋白属于Cys2-His2型锌指蛋白家族。已有研究发现，其在动物生长发育、繁殖以及免疫过程中扮演着重要角色，但在颅面发育中的作用尚未见报道。本研究首先通过原位杂交技术检测了egr1基因在斑马鱼软骨发育早期的表达情况，发现egr1基因在斑马鱼头部区域有特异性的表达。为了深入探究其功能，本研究采用CRISPR/Cas9基因编辑技术构建了egr1突变体斑马鱼模型，并对该突变体表型进行了初步分析。阿尔新蓝染色结果显示，egr1–/–突变体在早期胚胎的软骨发育过程中，颅面软骨发育异常，表现为Mecke1软骨和角舌骨出现弯曲和折叠，角鳃节和下鳃节区域软骨发育紊乱。本研究通过构建egr1基因敲除突变体模型，揭示了egr1基因缺失对斑马鱼早期胚胎颅面软骨发育的影响，为研究软骨相关疾病的发病机制和潜在治疗策略提供了重要的科学依据。
关键词：斑马鱼；egr1；原位杂交；CRISPR/Cas9；软骨发育
中图分类号：Q78　　　　　　　　文献标志码：A　　　DOI：10.3969/j.issn.1007-7146.2025.02.007

Abstract: The EGR1 protein encoded by early growth response factor 1 (egr1) belongs to the Cys2-His2 type zinc finger protein family. Previous studies have demonstrated its critical roles in animal growth, development, reproduction, and immune processes; however, its function in craniofacial development remains unreported. In this study, we utilized in situ hybridization to identify the specific expression of the egr1 gene in the head region of zebrafish during early cartilage development. To elucidate the function of EGR1 in this context, we employed CRISPR/Cas9 gene editing to generate egr1 knockout zebrafish and analyzed their phenotypes. Alcian blue staining revealed abnormalities in craniofacial cartilage development in egr1–/– mutant embryos, including deformities in Meckel’s cartilage and ceratohyal, as well as disarray in the opercular and branchial regions. Our findings demonstrated the critical impact of egr1 gene deficiency on early craniofacial cartilage development in zebrafish, offering valuable insights into the pathogenesis of cartilage-related diseases and potential therapeutic strategies.
Key words: zebrafish; egr1; in situ hybridization; CRISPR/Cas9; cartilage development
（Acta Laser Biology Sinica, 2025, 34(2): 148-156）