School of Life Sciences, Nantong University, Nantong, Jiangsu, China.
Department of Microbiology, Immunology, and Cancer Biology, University of Virginia Health System, Charlottesville, Virginia, USA.
J Biol Chem. 2023 Nov;299(11):105265. doi: 10.1016/j.jbc.2023.105265. Epub 2023 Sep 19.
Mosaicism refers to the presence of genetically distinct cell populations in an individual derived from a single zygote, which occurs during the process of development, aging, and genetic diseases. To date, a variety of genetically engineered mosaic analysis models have been established and widely used in studying gene function at exceptional cellular and spatiotemporal resolution, leading to many ground-breaking discoveries. Mosaic analysis with a repressible cellular marker and mosaic analysis with double markers are genetic mosaic analysis models based on trans-recombination. These models can generate sibling cells of distinct genotypes in the same animal and simultaneously label them with different colors. As a result, they offer a powerful approach for lineage tracing and studying the behavior of individual mutant cells in a wildtype environment, which is particularly useful for determining whether gene function is cell autonomous or nonautonomous. Here, we present a comprehensive review on the establishment and applications of mosaic analysis with a repressible cellular marker and mosaic analysis with double marker systems. Leveraging the capabilities of these mosaic models for phenotypic analysis will facilitate new discoveries on the cellular and molecular mechanisms of development and disease.
镶嵌性是指个体中存在源自单个合子的遗传上不同的细胞群体，它发生在发育、衰老和遗传疾病的过程中。迄今为止，已经建立了多种基因工程镶嵌分析模型，并广泛用于以特殊的细胞和时空分辨率研究基因功能，从而取得了许多突破性的发现。可抑制细胞标记的镶嵌分析和双标记的镶嵌分析是基于转重组的遗传镶嵌分析模型。这些模型可以在同一动物中产生不同基因型的同胞细胞，并同时用不同颜色标记它们。因此，它们为谱系追踪和研究个体突变细胞在野生型环境中的行为提供了强大的方法，这对于确定基因功能是细胞自主的还是非自主的特别有用。在这里，我们全面回顾了可抑制细胞标记的镶嵌分析和双标记系统的建立和应用。利用这些镶嵌模型进行表型分析的能力将有助于在发育和疾病的细胞和分子机制方面取得新的发现。
