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The Causes and Consequences of Genetic Interactions (Epistasis).
Annual Review of Genomics and Human Genetics ( IF 8.7 ) Pub Date : 2019-08-30 , DOI: 10.1146/annurev-genom-083118-014857
Júlia Domingo 1 , Pablo Baeza-Centurion 1 , Ben Lehner 1, 2, 3
Affiliation  

The same mutation can have different effects in different individuals. One important reason for this is that the outcome of a mutation can depend on the genetic context in which it occurs. This dependency is known as epistasis. In recent years, there has been a concerted effort to quantify the extent of pairwise and higher-order genetic interactions between mutations through deep mutagenesis of proteins and RNAs. This research has revealed two major components of epistasis: nonspecific genetic interactions caused by nonlinearities in genotype-to-phenotype maps, and specific interactions between particular mutations. Here, we provide an overview of our current understanding of the mechanisms causing epistasis at the molecular level, the consequences of genetic interactions for evolution and genetic prediction, and the applications of epistasis for understanding biology and determining macromolecular structures.

中文翻译:

基因相互作用的原因和后果(表皮症)。

同一突变在不同个体中可能具有不同的作用。一个重要的原因是突变的结果可能取决于其发生的遗传背景。这种依赖性称为上位性。近年来,人们一直致力于通过蛋白质和RNA的深层诱变来量化突变之间成对和更高阶遗传相互作用的程度。这项研究揭示了上位性的两个主要组成部分:由基因型到表型图的非线性引起的非特异性遗传相互作用,以及特定突变之间的特异性相互作用。在这里,我们概述了我们目前对分子水平上的上位性引起机制,遗传相互作用对进化和遗传预测的影响的理解,
更新日期:2020-04-21
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