Genome-wide association mapping within a local Arabidopsis thaliana population more fully reveals the genetic architecture for defensive metabolite diversity.

Genome-wide association mapping within a local Arabidopsis thaliana population more fully reveals the genetic architecture for defensive metabolite diversity.
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DOI:
10.1098/rstb.2020.0512
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发表时间:
2022-07-18
影响因子:
6.3
通讯作者:
Bergelson, Joy
Bergelson, Joy
中科院分区:
生物学1区
文献类型:
--
作者:
Gloss, Andrew D.;Vergnol, Amelie;Morton, Timothy C.;Laurin, Peter J.;Roux, Fabrice;Bergelson, Joy

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来自植物全基因组关联研究的一个自相矛盾的发现是,尽管潜在的生物合成途径复杂,但代谢物图谱的变异通常映射到少数基因座。这种差异可能部分源于地理上不同的测绘小组所带来的限制。如等位基因、遗传异质性和上位性等通过稀释因果变异的相加效应而阻碍GWAS的代谢途径的性质,预计将随着绘图小组的地理范围的扩大而加重。我们假设,来自单一地点的人群将揭示一组扩大的相关基因座。我们在法国拟南芥种群(不到1公里样带)中测试了这一点,方法是对硫代葡萄糖苷进行GWA分析和操作,硫代葡萄糖苷是一组防御性代谢物,已通过功能和遗传作图方法进行了深入研究。对于两种不同类别的硫代葡萄糖苷,我们在生物合成基因座上发现了比以前的大陆规模测绘小组更多的关联。在TOU-A群体中观察到的效应与先前的功能遗传和生化特征之间的一致性支持了潜在新关联的候选基因。当地人口补充了地理上不同的作图小组,以揭示代谢特征的更完整的遗传结构。本文是《适应和物种形成的遗传基础:从基因座到致病突变》主题的一部分。
A paradoxical finding from genome-wide association studies (GWAS) in plants is that variation in metabolite profiles typically maps to a small number of loci, despite the complexity of underlying biosynthetic pathways. This discrepancy may partially arise from limitations presented by geographically diverse mapping panels. Properties of metabolic pathways that impede GWAS by diluting the additive effect of a causal variant, such as allelic and genetic heterogeneity and epistasis, would be expected to increase in severity with the geographical range of the mapping panel. We hypothesized that a population from a single locality would reveal an expanded set of associated loci. We tested this in a French Arabidopsis thaliana population (less than 1 km transect) by profiling and conducting GWAS for glucosinolates, a suite of defensive metabolites that have been studied in depth through functional and genetic mapping approaches. For two distinct classes of glucosinolates, we discovered more associations at biosynthetic loci than the previous GWAS with continental-scale mapping panels. Candidate genes underlying novel associations were supported by concordance between their observed effects in the TOU-A population and previous functional genetic and biochemical characterization. Local populations complement geographically diverse mapping panels to reveal a more complete genetic architecture for metabolic traits. This article is part of the theme issue ‘Genetic basis of adaptation and speciation: from loci to causative mutations’.
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