Boettcher Susanne, Simons Matias
Sektion Nephrogenetik, Institute of Human Genetics, University Hospital Heidelberg, 69120 Heidelberg, Germany.
Med Genet. 2022 Nov 29;34(4):287-296. doi: 10.1515/medgen-2022-2162. eCollection 2022 Dec.
Functional validation is key for establishing new disease genes in human genetics. Over the years, model organisms have been utilized in a very effective manner to prove causality of genes or genetic variants for a wide variety of diseases. Also in hereditary renal disease, model organisms are very helpful for functional validation of candidate genes and variants identified by next-generation sequencing strategies and for obtaining insights into the pathophysiology. Due to high genetic conservation as well as high anatomical and physiological similarities with the human kidney, almost all genetic kidney diseases can be studied in the mouse. However, mouse work is time consuming and expensive, so there is a need for alternative models. In this review, we will provide an overview of model organisms used in renal research, focusing on mouse, zebrafish, frog, and fruit flies.
功能验证是人类遗传学中确立新疾病基因的关键。多年来，模式生物已被非常有效地用于证明各种疾病的基因或遗传变异的因果关系。同样在遗传性肾脏疾病中，模式生物对于通过下一代测序策略鉴定的候选基因和变异的功能验证以及深入了解病理生理学非常有帮助。由于与人类肾脏具有高度的遗传保守性以及高度的解剖学和生理学相似性，几乎所有遗传性肾脏疾病都可以在小鼠中进行研究。然而，小鼠实验耗时且昂贵，因此需要替代模型。在本综述中，我们将概述肾脏研究中使用的模式生物，重点介绍小鼠、斑马鱼、青蛙和果蝇。
