Roots play a key role in plant growth regulation. It is well described that the below-ground plant architecture has a significant impact on plant performance under abiotic constraints and maintains stability under increased grain load (Lynch, 2013). Although loci influencing root traits have been shown to affect grain yield and agronomic performance (e.g., Canè et al., 2014), knowledge about the genetic control of root growth in major grain crops is limited. Here, we demonstrate that VERNALIZATION1 (VRN1), a key regulator of flowering behavior in cereals (Deng et al., 2015), also modulates root architecture in wheat and barley. Our discoveries provide unexpected insight into underground functions of a major player in the flowering pathway.
SummaryEvolutionary processes during plant polyploidization and speciation have led to extensive presence–absence variation (PAV) in crop genomes, and there is increasing evidence that PAV associates with important traits. Today, high‐resolution genetic analysis in major crops frequently implements simple, cost‐effective, high‐throughput genotyping from single nucleotide polymorphism (SNP) hybridization arrays; however, these are normally not designed to distinguish PAV from failed SNP calls caused by hybridization artefacts. Here, we describe a strategy to recover valuable information from single nucleotide absence polymorphisms (SNaPs) by population‐based quality filtering of SNP hybridization data to distinguish patterns associated with genuine deletions from those caused by technical failures. We reveal that including SNaPs in genetic analyses elucidate segregation of small to large‐scale structural variants in nested association mapping populations of oilseed rape (Brassica napus), a recent polyploid crop with widespread structural variation. Including SNaP markers in genomewide association studies identified numerous quantitative trait loci, invisible using SNP markers alone, for resistance to two major fungal diseases of oilseed rape, Sclerotinia stem rot and blackleg disease. Our results indicate that PAV has a strong influence on quantitative disease resistance in B. napus and that SNaP analysis using cost‐effective SNP array data can provide extensive added value from ‘missing data’. This strategy might also be applicable for improving the precision of genetic mapping in many important crop species.
Summary Genome structural variation (SV) contributes strongly to trait variation in eukaryotic species and may have an even higher functional significance than single‐nucleotide polymorphism (SNP). In recent years, there have been a number of studies associating large chromosomal scale SV ranging from hundreds of kilobases all the way up to a few megabases to key agronomic traits in plant genomes. However, there have been little or no efforts towards cataloguing small‐ (30–10 000 bp) to mid‐scale (10 000–30 000 bp) SV and their impact on evolution and adaptation‐related traits in plants. This might be attributed to complex and highly duplicated nature of plant genomes, which makes them difficult to assess using high‐throughput genome screening methods. Here, we describe how long‐read sequencing technologies can overcome this problem, revealing a surprisingly high level of widespread, small‐ to mid‐scale SV in a major allopolyploid crop species, Brassica napus. We found that up to 10% of all genes were affected by small‐ to mid‐scale SV events. Nearly half of these SV events ranged between 100 bp and 1000 bp, which makes them challenging to detect using short‐read Illumina sequencing. Examples demonstrating the contribution of such SV towards eco‐geographical adaptation and disease resistance in oilseed rape suggest that revisiting complex plant genomes using medium‐coverage long‐read sequencing might reveal unexpected levels of functional gene variation, with major implications for trait regulation and crop improvement.
Andreas von tiedemann 2 , Rod J. Snowdon 1 & christian obermeier 1* Although copy number variation (CNV) and presence-absence variation (PAV) have been discovered in selected gene families in most crop species, the global prevalence of these polymorphisms in most complex genomes is still unclear and their influence on quantitatively inherited agronomic traits is still largely unknown. Here we analyze the association of gene PAV with resistance of oilseed rape (Brassica napus) against the important fungal pathogen Verticillium longisporum, as an example for a complex, quantitative disease resistance in the strongly rearranged genome of a recent allopolyploid crop species. Using Single Nucleotide absence Polymorphism (SNaP) markers to efficiently trace PAV in breeding populations, we significantly increased the resolution of loci influencing V. longisporum resistance in biparental and multi-parental mapping populations. Gene PAV, assayed by resequencing mapping parents, was observed in 23-51% of the genes within confidence intervals of quantitative trait loci (QTL) for V. longisporum resistance, and high-priority candidate genes identified within QTL were all affected by PAV. The results demonstrate the prominent role of gene PAV in determining agronomic traits, suggesting that this important class of polymorphism should be exploited more systematically in future plant breeding. Duplication of genes followed by diversification is a common process shaping the evolution of plant species by natural and artificial (breeding) selection 1. Genes can be duplicated by different mechanisms, including tandem duplication, transposon-mediated duplication, segmental duplication, or in the most extreme form by whole-genome duplication (WGD) or polyploidization. WGD is common in the evolutionary history of many wild and cultivated plant species. Different terms have been used frequently to describe short-and long-range genomic duplication and genome structural variation (SV), a term originally defined in reference to insertions, deletions and inversions greater than 1 kb in size 2-4. In contrast to small-scale insertion-deletion (InDel) polymorphisms, which are generally defined as small insertions or deletions of a few nucleotides (up to 50 bp), SV in the size range of genes (up to a few kb) can give rise to copy number variation (CNV) or presence/absence variation (PAV). The latter is an extreme form of CNV where fragments in the size range of genes are missing from the genomes of some investigated genotypes. Genes affected by duplications, InDels, CNVs and PAVs in diploid and polyploid plant species have been linked to local adaptation of wild populations 5 and to important agronomical traits in crops 1,3,6-8 for example flowering time and vernalization requirement in oilseed rape 9,10 and wheat 11 , abiotic stress tolerance in wheat 12,13 and biotic stress tolerance in tobacco 14. However, the strong impact of CNV and other forms of SV in polyploid crop genomes on evolution and trait selection was not recognized until the las...
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