Coq4基因全敲除小鼠胚胎发育的表型分析  

Phenotypic analysis of embryonic development in mice with global knockout of the Coq4 gene

作　　者：贺雪珂 姜志胜[1] 杨中州 姜淼 HE Xueke;JIANG Zhisheng;YANG Zhongzhou;JIANG Miao(Institute of Cardiovascular Disease,Key Laboratory for Arteriosclerology of Hunan Province,International Joint Laboratory for Arteriosclerotic Disease,University of South China,Hengyang 421000;Department of Basic Medicine,School of Medicine,Nanjing University,Nanjing 210008,China)

机构地区：[1]南华大学心血管疾病研究所,动脉硬化学湖南省重点实验室,湖南省动脉硬化性疾病国际科技创新合作基地,湖南衡阳421000 [2]南京大学医学院基础医学系,江苏南京210008

出　　处：《南京医科大学学报（自然科学版）》2024年第4期462-468,共7页Journal of Nanjing Medical University(Natural Sciences)

基　　金：国家重点研发计划专项(2019YFA0801601,2018YFA0801100);国家自然科学基金(32101018);湖南省自然科学基金(2023JJ30522)。

摘　　要：目的:通过分析辅酶Q生物合成蛋白4同系物(coenzyme Q biosynthesis protein 4 homolog,COQ4)的编码基因Coq4敲除(Coq4^(-/-))小鼠表型,探讨Coq4在小鼠胚胎发育中的作用。方法:引进Coq4基因全身杂合(Coq4^(+/-))小鼠模型,利用基因组PCR鉴定小鼠基因型。观察并记录Coq4^(+/-)小鼠后代出生情况;通过解剖、组织学和免疫荧光法,观察野生型(wild type,WT)和Coq4^(-/-)胚胎和胎盘组织的形态结构。结果:Coq4^(-/-)小鼠在胚胎日(embryonic day,E)7.5 d(E7.5)出现原肠胚形成障碍,于E10.5死亡。组织形态分析显示,与WT相比,Coq4^(-/-)小鼠胚胎发育严重迟缓,胎盘结构缺陷。免疫荧光染色分析发现,Coq4^(-/-)小鼠胎盘滋养层细胞侵袭能力减弱。结论:Coq4基因敲除导致小鼠发生胎盘缺陷和原肠胚形成障碍,Coq4为小鼠胚胎发育所必需的基因。Objective:To elucidate the physiological functions of coenzyme Q biosynthesis protein 4 homolog(COQ4)in mammals by using Coq4 knockout(Coq4^(-/-))mice.Methods:Coq4 global heterozygous mouse models were introduced,and the different genotypes of mice were detected by genomic PCR.The phenotypes,growth,reproduction of Coq4^(+/-)mice were observed and recorded.The morphology and structure of embryonic and placental tissues of wild type(WT)and Coq4^(-/-)mice were studied by anatomic and histological analyses as well as immunofluorescence assay.Results:Coq4^(-/-)mice exhibited an impaired gastrulation on embryonic day(E)7.5(E7.5)and were died on E10.5.Morphological analysis showed severely retarded embryonic development with obvious defective placental structures in Coq4^(-/-)mice,compared with the WT mice.Immunofluorescence analysis revealed that trophoblast cell invasion was diminished in the placenta of Goq4^(-/-)mice.Conclusion:Knockout of Coq4 gene leads to impaired placenta and gastrula formation in mice.Coq4 is essential for embryonic development.

关 键 词：滋养层细胞 胎盘 胚外外胚层 原肠胚 

分 类 号：R394.1[医药卫生—医学遗传学]