Center for the Genetics of Host Defense, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
Center for the Genetics of Host Defense, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
J Invest Dermatol. 2019 Sep;139(9):1848-1853.e1. doi: 10.1016/j.jid.2019.04.013.
The primary goals of modern genetics are to identify disease-causing mutations and to define the functions of genes in biological processes. Two complementary approaches, reverse and forward genetics, can be used to achieve this goal. Reverse genetics is a gene-driven approach that comprises specific gene targeting followed by phenotypic assessment. Conversely, forward genetics is a phenotype-driven approach that involves the phenotypic screening of organisms with randomly induced mutations followed by subsequent identification of the causative mutations (i.e., those responsible for phenotype). In this article, we focus on how forward genetics in mice can be used to explore dermatologic disease. We outline mouse mutagenesis with the chemical N-ethyl-N-nitrosourea and the strategy used to instantaneously identify mutations that are causative of specific phenotypes. Furthermore, we summarize the types of phenotypic screens that can be performed to explore various aspects of dermatologic disease.
现代遗传学的主要目标是鉴定致病突变，并定义基因在生物过程中的功能。两种互补的方法，反向遗传学和正向遗传学，可以用来实现这一目标。反向遗传学是一种基因驱动的方法，包括特定的基因靶向，然后进行表型评估。相反，正向遗传学是一种表型驱动的方法，涉及随机诱导突变的生物体的表型筛选，然后随后鉴定引起突变的原因（即，那些导致表型的原因）。在本文中，我们重点介绍如何在小鼠中使用正向遗传学来探索皮肤疾病。我们概述了用化学物质 N-乙基-N-亚硝脲进行小鼠诱变，以及用于即时鉴定导致特定表型的突变的策略。此外，我们总结了可以进行的各种表型筛选类型，以探索皮肤疾病的各个方面。
