TANGO2全身敲除小鼠在正常生理条件下正常发育和繁殖
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南京大学医学院

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科技部重点研发专项“发育编程及其代谢调节”项目


The TANGO2 knockout mice developed and reproduced normally under normal physiological conditions
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    摘要:

    目的:DiGeorge综合征(22q11.2缺失综合征)是最常见的染色体微缺失疾病,是由22q11.2染色体微片段缺失引起的多系统发育异常,Transport and Golgi organization 2(TANGO2)基因位于该缺失片段上。本文利用TANGO2敲除小鼠阐明TANGO2在哺乳动物中的生理功能,探究TANGO2是否是导致DiGeorge综合征发生的候选基因。方法:产生TANGO2敲除小鼠模型,通过荧光实时定量PCR检测该小鼠模型的基因敲除效率。观察并记录野生型、杂合和纯和敲除小鼠的表型和生长繁育情况。通过组织解剖和组织学分析,观察野生型和敲除小鼠的心脏和大脑组织的形态结构。结果:TANGO2 mRNA在野生型小鼠的心脏和大脑中表达,而在敲除小鼠相应组织中的表达水平显著降低。TANGO2敲除小鼠发育正常,能够存活和繁殖,没有明显的表型异常。与野生型同窝仔相比,生存率没有显著差异。组织形态分析显示,新生小鼠和6月龄敲除小鼠的心脏和大脑与野生型之间无显著差异。结论:TANGO2敲除小鼠能够正常生长和繁殖,并且缺乏人类中TANGO2相关疾病或DiGeorge综合征的相关表型。

    Abstract:

    Objective: DiGeorge syndrome (22q11.2 deletion syndrome) is the most common chromosomal microdeletion disorder and is a multisystem developmental anomaly caused by the deletion of 22q11.2 chromosomal microdeletions. Transport and Golgi Organization protein 2 Homolog (TANGO2) is one of the genes located on 22q11.2 microdeletion fragment. Here, we generated TANGO2 knockout mice to elucidate its physiological function in mammals, and to explore whether TANGO2 is a candidate gene responsible for DiGeorge syndrome. Methods: The TANGO2 knockout mouse model was generated, and the knockout efficiency of the mouse model was detected by real-time quantitative PCR. The phenotype, growth and breeding of wild-type, TANGO2+/- and TANGO2-/- mice were observed and recorded. The morphological structures of heart and brain tissues in wild-type and knockout mice were observed through anatomic and histological analysis. Results: TANGO2 mRNA was expressed in the heart and brain of wild-type mice, but its expression level was substantially reduced in knockout mice. TANGO2 knockout mice could develop, survive and reproduce, and did not exhibit obvious phenotypic abnormalities. Histological analyses of the heart and brain showed no big differences between knockout mice and wild-type at birth and 6-month-old. Conclusion: TANGO2 knockout mice grow and reproduce normally and lack the phenotype associated with TANGO2-related disorders or DiGeorge syndrome in humans.

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  • 收稿日期:2023-02-14
  • 最后修改日期:2023-03-11
  • 录用日期:2023-05-23
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