Model organisms for functional validation in genetic renal disease.

IF 0.8 4区 生物学 Q4 GENETICS & HEREDITY Medizinische Genetik Pub Date : 2022-11-29 eCollection Date: 2022-12-01 DOI:10.1515/medgen-2022-2162
Susanne Boettcher, Matias Simons
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Abstract

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.

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遗传性肾病功能验证的模式生物
摘要功能验证是建立人类遗传学新疾病基因的关键。多年来,模式生物已经以一种非常有效的方式被用来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,模式生物对下一代测序策略确定的候选基因和变体的功能验证以及对病理生理学的深入了解非常有帮助。由于高度的遗传保守性以及与人类肾脏在解剖和生理上的高度相似性,几乎所有的遗传性肾脏疾病都可以在小鼠身上进行研究。然而,鼠标工作耗时且昂贵,因此需要替代模型。在这篇综述中,我们将概述用于肾脏研究的模式生物,重点是小鼠、斑马鱼、青蛙和果蝇。
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来源期刊
Medizinische Genetik
Medizinische Genetik Medicine-Genetics (clinical)
CiteScore
1.40
自引率
9.10%
发文量
48
审稿时长
>12 weeks
期刊介绍: medizinischegenetik is a scientific journal that is owned and published by the German Society of Human Genetics e.V. since 1989. The journal was founded by Prof. Jan Murken, München. Self-published until 2006, from 2007-2019 published at Springer Verlag and since 2020 at De Gruyter. medizinischegenetik serves education and training among colleagues, the interdisciplinary exchange of knowledge in all areas of human genetics in clinics, practice, research and teaching. Each issue of the quarterly journal deals with a focus that provides a comprehensive overview of current developments in specific clinical pictures, technical developments and therapeutic approaches. All reviews are written in English language. The journal thus creates a platform for the international exchange of knowledge and increased awareness of German research activities in the scientific community. In addition, medizinischegenetik contains information on activities in its own subject in the German-language section. This includes conference reports, association announcements, personnel matters, statements and guidelines. With health policy questions, historical retrospectives and comments on current developments, the profession takes a stand on human genetic issues in Germany, Austria and Switzerland.
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