Proteases and Tissue Remodeling Section, NIDCR, National Institutes of Health, Bethesda, Maryland 20892.
Proteases and Tissue Remodeling Section, NIDCR, National Institutes of Health, Bethesda, Maryland 20892
J Biol Chem. 2019 Nov 1;294(44):15987-15996. doi: 10.1074/jbc.RA119.009773. Epub 2019 Sep 9.
Elucidation of gene function by reverse genetics in animal models frequently is complicated by the functional redundancy of homologous genes. This obstacle often is compounded by the tight clustering of homologous genes, which precludes the generation of multigene-deficient animals through standard interbreeding of single-deficient animals. Here, we describe an iterative, multiplexed CRISPR-based approach for simultaneous gene editing in the complex seven-member human airway trypsin-like protease/differentially expressed in a squamous cell carcinoma (HAT/DESC) cluster of membrane-anchored serine proteases. Through four cycles of targeting, we generated a library of 18 unique congenic mouse strains lacking combinations of HAT/DESC proteases, including a mouse strain deficient in all seven proteases. Using this library, we demonstrate that HAT/DESC proteases are dispensable for term development, postnatal health, and fertility and that the recently described function of the HAT-like 4 protease in epidermal barrier formation is unique among all HAT/DESC proteases. The study demonstrates the potential of iterative, multiplexed CRISPR-mediated gene editing for functional analysis of multigene clusters, and it provides a large array of new congenic mouse strains for the study of HAT/DESC proteases in physiological and in pathophysiological processes.
通过在动物模型中进行反向遗传学来阐明基因功能,常常会受到同源基因功能冗余的影响。这个障碍通常会因同源基因的紧密聚类而加剧,这使得通过标准的单基因缺陷动物杂交来产生多基因缺陷动物变得不可能。在这里,我们描述了一种迭代的、多重的基于 CRISPR 的方法,用于同时编辑复杂的七成员人呼吸道胰蛋白酶样蛋白酶/鳞状细胞癌差异表达(HAT/DESC)膜锚定丝氨酸蛋白酶簇中的基因。通过四轮靶向,我们生成了一个包含 18 个独特同源基因小鼠品系的文库,这些品系缺乏 HAT/DESC 蛋白酶的组合,包括一种缺乏所有七种蛋白酶的小鼠品系。利用这个文库,我们证明了 HAT/DESC 蛋白酶对于终末发育、出生后健康和生育能力是可有可无的,并且最近描述的 HAT 样 4 蛋白酶在表皮屏障形成中的功能在所有 HAT/DESC 蛋白酶中是独特的。该研究展示了迭代的、多重的 CRISPR 介导的基因编辑在多基因簇功能分析中的潜力,并提供了大量新的同源基因小鼠品系,用于研究 HAT/DESC 蛋白酶在生理和病理生理过程中的作用。