Department of Cell, Developmental and Integrative Biology, University of Alabama at Birmingham, Birmingham, AL, USA.
Methods Mol Biol. 2022;2438:197-216. doi: 10.1007/978-1-0716-2035-9_13.
Planar cell polarity (PCP) signaling plays a critical role in coordinating cell polarity during various organogenesis processes in mammals, and its disruption is causal to numerous congenital disorders in humans. To elucidate its actions in mammals, mouse genetics is an indispensable approach. Given that both gain- and loss-of-function of many PCP genes often cause similar defects, the standard mouse transgenic approach may not always be ideal for studying PCP genes in their wild-type and mutant forms. Here we describe using BAC (bacterial artificial chromosomes) transgenes as a versatile and effective alternative. Transgenes made from BACs, which are genomic clones 100-200 kb in size, can more faithful recapitulate endogenous gene expression levels and patterns. Bacterial based recombination system can be used to efficiently introduce mutations, fluorescent protein tags, and LoxP sites for conditional expressions. Cre can also be inserted into BACs to map the contribution of cells expressing any PCP gene of interest, and study PCP mediated tissue morphogenesis.
平面细胞极性 (PCP) 信号在哺乳动物的各种器官发生过程中对协调细胞极性起着关键作用,其破坏是导致人类许多先天性疾病的原因。为了阐明其在哺乳动物中的作用,小鼠遗传学是一种不可或缺的方法。鉴于许多 PCP 基因的功能获得和功能丧失通常会导致类似的缺陷,标准的小鼠转基因方法并不总是理想的,无法用于研究野生型和突变型 PCP 基因。在这里,我们描述了使用 BAC(细菌人工染色体)转基因作为一种通用且有效的替代方法。BAC 转基因是大小为 100-200 kb 的基因组克隆,可以更真实地重现内源性基因表达水平和模式。基于细菌的重组系统可用于高效引入突变、荧光蛋白标签和 LoxP 位点,实现条件表达。Cre 也可以插入 BAC 中,以确定表达任何感兴趣的 PCP 基因的细胞的贡献,并研究 PCP 介导的组织形态发生。