Center for Plant Science Innovation, University of Nebraska-Lincoln, Lincoln, NE 68588, USA.
Department of Agronomy and Horticulture, University of Nebraska-Lincoln, Lincoln, NE 68588, USA.
Gigascience. 2022 Aug 23;11. doi: 10.1093/gigascience/giac080.
Classical genetic studies have identified many cases of pleiotropy where mutations in individual genes alter many different phenotypes. Quantitative genetic studies of natural genetic variants frequently examine one or a few traits, limiting their potential to identify pleiotropic effects of natural genetic variants. Widely adopted community association panels have been employed by plant genetics communities to study the genetic basis of naturally occurring phenotypic variation in a wide range of traits. High-density genetic marker data-18M markers-from 2 partially overlapping maize association panels comprising 1,014 unique genotypes grown in field trials across at least 7 US states and scored for 162 distinct trait data sets enabled the identification of of 2,154 suggestive marker-trait associations and 697 confident associations in the maize genome using a resampling-based genome-wide association strategy. The precision of individual marker-trait associations was estimated to be 3 genes based on a reference set of genes with known phenotypes. Examples were observed of both genetic loci associated with variation in diverse traits (e.g., above-ground and below-ground traits), as well as individual loci associated with the same or similar traits across diverse environments. Many significant signals are located near genes whose functions were previously entirely unknown or estimated purely via functional data on homologs. This study demonstrates the potential of mining community association panel data using new higher-density genetic marker sets combined with resampling-based genome-wide association tests to develop testable hypotheses about gene functions, identify potential pleiotropic effects of natural genetic variants, and study genotype-by-environment interaction.
经典遗传学研究已经确定了许多多效性的例子,其中单个基因的突变改变了许多不同的表型。自然遗传变异的定量遗传学研究通常只研究一个或几个特征,限制了它们识别自然遗传变异的多效性效应的潜力。植物遗传学界广泛采用社区关联面板来研究广泛的特征中自然发生的表型变异的遗传基础。来自两个部分重叠的玉米关联面板的高密度遗传标记数据-18M 个标记-由在至少 7 个美国州的田间试验中生长的 1014 个独特基因型组成,并对 162 个不同的性状数据集进行评分,这使得可以使用基于重采样的全基因组关联策略在玉米基因组中鉴定 2154 个提示性标记-性状关联和 697 个置信关联。基于具有已知表型的基因参考集,估计单个标记-性状关联的精度为 3 个基因。观察到了与不同性状(例如地上和地下性状)变异相关的遗传基因座的例子,以及与不同环境下相同或相似性状相关的单个基因座的例子。许多显著信号位于功能先前完全未知或仅根据同源物的功能数据估计的基因附近。这项研究表明,使用新的高密度遗传标记集结合基于重采样的全基因组关联测试来挖掘社区关联面板数据,具有发现基因功能的可测试假设、识别自然遗传变异的潜在多效性效应以及研究基因型-环境互作的潜力。