Steenwyk Jacob L, Rokas Antonis
Department of Biological Sciences, Vanderbilt University, Nashville, TN, United States.
Front Microbiol. 2018 Feb 22;9:288. doi: 10.3389/fmicb.2018.00288. eCollection 2018.
In recent years, copy number (CN) variation has emerged as a new and significant source of genetic polymorphisms contributing to the phenotypic diversity of populations. CN variants are defined as genetic loci that, due to duplication and deletion, vary in their number of copies across individuals in a population. CN variants range in size from 50 base pairs to whole chromosomes, can influence gene activity, and are associated with a wide range of phenotypes in diverse organisms, including the budding yeast . In this review, we introduce CN variation, discuss the genetic and molecular mechanisms implicated in its generation, how they can contribute to genetic and phenotypic diversity in fungal populations, and consider how CN variants may influence wine yeast adaptation in fermentation-related processes. In particular, we focus on reviewing recent work investigating the contribution of changes in CN of fermentation-related genes in yeast wine strains and offer notable illustrations of such changes, including the high levels of CN variation among the genes, which confer resistance to copper, a metal with fungicidal properties, and the preferential deletion and duplication of the and loci, respectively, which are responsible for metabolizing maltose and sucrose. Based on the available data, we propose that CN variation is a substantial dimension of yeast genetic diversity that occurs largely independent of single nucleotide polymorphisms. As such, CN variation harbors considerable potential for understanding and manipulating yeast strains in the wine fermentation environment and beyond.
近年来,拷贝数(CN)变异已成为遗传多态性的一个新的重要来源,它有助于群体的表型多样性。CN变异被定义为由于复制和缺失,在群体中个体间拷贝数不同的基因座。CN变异的大小范围从50个碱基对到整条染色体,可影响基因活性,并与包括出芽酵母在内的多种生物的广泛表型相关。在这篇综述中,我们介绍CN变异,讨论其产生所涉及的遗传和分子机制,它们如何导致真菌群体的遗传和表型多样性,并思考CN变异如何在与发酵相关的过程中影响酿酒酵母的适应性。特别是,我们着重回顾了最近关于研究酵母葡萄酒菌株中与发酵相关基因的CN变化贡献的工作,并提供了此类变化的显著例证,包括赋予对具有杀真菌特性的金属铜抗性的基因间高水平的CN变异,以及分别负责代谢麦芽糖和蔗糖的基因座的优先缺失和复制。基于现有数据,我们提出CN变异是酵母遗传多样性的一个重要维度,其发生在很大程度上独立于单核苷酸多态性。因此,CN变异在理解和操控葡萄酒发酵环境及其他环境中的酵母菌株方面具有巨大潜力。