Liu Chengyu
iPSC and Genome Engineering Core, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
Methods Mol Biol. 2013;1027:183-201. doi: 10.1007/978-1-60327-369-5_8.
Generation and characterization of transgenic mice are important elements of biomedical research. In recent years, transgenic technology has become more versatile and sophisticated, mainly because of the incorporation of recombinase-mediated conditional expression and targeted insertion, site-specific endonuclease-mediated genome editing, siRNA-mediated gene knockdown, various inducible gene expression systems, and fluorescent protein marking and tracking techniques. Site-specific recombinases (such as PhiC31) and engineered endonucleases (such as ZFN and Talen) have significantly enhanced our ability to target transgenes into specific genomic loci, but currently a great majority of transgenic mouse lines are continuingly being created using the conventional random insertion method. A major challenge for using this conventional method is that the genomic environment at the integration site has a substantial influence on the expression of the transgene. Although our understanding of such chromosomal position effects and our means to combat them are still primitive, adhering to some general guidelines can significantly increase the odds of successful transgene expression. This chapter first discusses the major problems associated with transgene expression, and then describes some of the principles for using plasmid and bacterial artificial chromosomes (BACs) for generating transgenic constructs. Finally, the strategies for conducting each of the major types of transgenic research are discussed, including gene overexpression, promoter characterization, cell-lineage tracing, mutant complementation, expression of double or multiple transgenes, siRNA knockdown, and conditional and inducible systems.
转基因小鼠的产生与特性分析是生物医学研究的重要组成部分。近年来,转基因技术变得更加通用和复杂,这主要归功于重组酶介导的条件性表达和靶向插入、位点特异性核酸内切酶介导的基因组编辑、siRNA介导的基因敲低、各种诱导性基因表达系统以及荧光蛋白标记和追踪技术的引入。位点特异性重组酶(如PhiC31)和工程化核酸内切酶(如ZFN和Talen)显著增强了我们将转基因靶向特定基因组位点的能力,但目前绝大多数转基因小鼠品系仍在使用传统的随机插入方法创建。使用这种传统方法的一个主要挑战是整合位点的基因组环境对转基因的表达有重大影响。尽管我们对这种染色体位置效应的理解以及应对它们的手段仍然很原始,但遵循一些一般准则可以显著提高转基因成功表达的几率。本章首先讨论与转基因表达相关的主要问题,然后描述使用质粒和细菌人工染色体(BAC)生成转基因构建体的一些原则。最后,讨论了进行每种主要类型转基因研究的策略,包括基因过表达、启动子特性分析、细胞谱系追踪、突变体互补、双转基因或多转基因表达、siRNA敲低以及条件性和诱导性系统。