Hofmeister Andreas F, Kömhoff Martin, Weber Stefanie, Grgic Ivica
Department of Internal Medicine and Nephrology, University Hospital Giessen and Marburg, Philipps-University Marburg, Baldingerstrasse 1, 35033, Marburg, Germany.
University Children's Hospital, Philipps-University Marburg, Marburg, Germany.
Cell Tissue Res. 2017 Jul;369(1):159-170. doi: 10.1007/s00441-017-2639-3. Epub 2017 Jun 10.
The mouse still represents arguably the most important mammal organism in research for modeling human genetic kidney diseases in vivo. Compared with many other mammal species, the breeding and maintenance of mice in the laboratory is relatively simple and cheap and reproduction cycles are short. In addition to classic gene knockout mouse lines, new molecular biological technologies have led to the development of a plethora of other, more sophisticated, mouse models, allowing the targeting of genes or gene function in a cell-specific, tissue-specific and time-dependent fashion. With the refinement of more recently developed genome-editing technologies, including the clustered regularly interspaced short palindromic repeats (CRISPR)-Cas system and other engineered nucleases such as zinc-finger nucleases (ZFNs) and transcription activator-like effector nucleases (TALENs), our "tool set" of mouse models is expected to rapidly expand. These technological advances hold great promise and should enable us to study and hence understand the biology of inherited kidney diseases in greater detail. By analogy, we may be able to answer questions regarding the impact of individual proteins on the development of human kidney disorders, the underlying mechanisms governing the evolution of the disease and the predicted responsiveness to therapeutic interventions. Moreover, knockout and transgenic mouse models can be highly informative with respect to the effects of genetic variations on renal phenotypes. This review focuses on mouse models that have been devised primarily to study monogenic human kidney diseases, which are typically caused by a single abnormal gene and passed on in a Mendelian pattern. Despite the large number of human hereditary kidney disorders and the multitude of mouse models described in the literature, we attempt to give a balanced overview of several well-known renal pathologies, a few of which are addressed in some detail.
在体内模拟人类遗传性肾脏疾病的研究中,小鼠仍然可以说是最重要的哺乳动物模型。与许多其他哺乳动物物种相比,在实验室中饲养和维持小鼠相对简单且成本低廉,而且繁殖周期短。除了经典的基因敲除小鼠品系外,新的分子生物学技术还催生了大量其他更复杂的小鼠模型,使得能够以细胞特异性、组织特异性和时间依赖性的方式靶向基因或基因功能。随着包括成簇规律间隔短回文重复序列(CRISPR)-Cas系统以及其他工程核酸酶如锌指核酸酶(ZFN)和转录激活样效应因子核酸酶(TALEN)等最近开发的基因组编辑技术的完善,我们的小鼠模型“工具集”有望迅速扩展。这些技术进步前景广阔,应该能使我们更详细地研究并进而了解遗传性肾脏疾病的生物学特性。以此类推,我们或许能够回答有关单个蛋白质对人类肾脏疾病发展的影响、疾病演变的潜在机制以及对治疗干预的预测反应性等问题。此外,基因敲除和转基因小鼠模型对于遗传变异对肾脏表型的影响可能具有很高的参考价值。本综述重点关注主要为研究单基因人类肾脏疾病而设计的小鼠模型,这些疾病通常由单个异常基因引起,并以孟德尔方式遗传。尽管文献中描述了大量人类遗传性肾脏疾病和众多小鼠模型,但我们试图对几种著名的肾脏病理学进行全面概述,其中一些将进行较为详细的阐述。