USDA-ARS, Genomics and Bioinformatics Research Unit, Stoneville, Mississippi, United States of America.
University of Georgia, Athens, Institute of Plant Breeding, Genetics, and Genomics, Athens, Georgia, United States of America.
PLoS Genet. 2021 Mar 18;17(3):e1009389. doi: 10.1371/journal.pgen.1009389. eCollection 2021 Mar.
The genetic basis of general plant vigor is of major interest to food producers, yet the trait is recalcitrant to genetic mapping because of the number of loci involved, their small effects, and linkage. Observations of heterosis in many crops suggests that recessive, malfunctioning versions of genes are a major cause of poor performance, yet we have little information on the mutational spectrum underlying these disruptions. To address this question, we generated a long-read assembly of a tropical japonica rice (Oryza sativa) variety, Carolina Gold, which allowed us to identify structural mutations (>50 bp) and orient them with respect to their ancestral state using the outgroup, Oryza glaberrima. Supporting prior work, we find substantial genome expansion in the sativa branch. While transposable elements (TEs) account for the largest share of size variation, the majority of events are not directly TE-mediated. Tandem duplications are the most common source of insertions and are highly enriched among 50-200bp mutations. To explore the relative impact of various mutational classes on crop fitness, we then track these structural events over the last century of US rice improvement using 101 resequenced varieties. Within this material, a pattern of temporary hybridization between medium and long-grain varieties was followed by recent divergence. During this long-term selection, structural mutations that impact gene exons have been removed at a greater rate than intronic indels and single-nucleotide mutations. These results support the use of ab initio estimates of mutational burden, based on structural data, as an orthogonal predictor in genomic selection.
植物整体活力的遗传基础是食品生产者非常关注的问题,但由于涉及的基因座数量多、效应小以及连锁等原因,该特性难以进行遗传作图。许多作物杂种优势的观察结果表明,基因的隐性、功能失调版本是表现不佳的主要原因,但我们对这些破坏的突变谱知之甚少。为了解决这个问题,我们生成了热带粳稻(Oryza sativa)品种 Carolina Gold 的长读长组装,这使我们能够使用外群 Oryza glaberrima 识别结构突变(>50 bp),并确定它们相对于其原始状态的方向。与先前的工作一致,我们发现 sativa 分支中有大量的基因组扩张。虽然转座元件(TEs)占大小变异的最大份额,但大多数事件并非直接由 TEs 介导。串联重复是插入的最常见来源,在 50-200bp 突变中高度富集。为了探索各种突变类别的相对影响,我们使用 101 个重测序品种在过去一个世纪的美国水稻改良中追踪了这些结构事件。在这些材料中,中等和长粒品种之间的临时杂交模式之后是最近的分化。在长期选择过程中,影响基因外显子的结构突变比内含子插入和单核苷酸突变被去除的速度更快。这些结果支持使用基于结构数据的从头估计突变负担作为基因组选择的正交预测因子。