Abstract

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.

Highlights

  • Duplication of genes followed by diversification is a common process shaping the evolution of plant species by natural and artificial selection[1]

  • The reanalysis and integration of SNP array data, short-range Illumina sequencing data and long-range Bionano optical mapping data with quantitative trait locus (QTL) data provided new insights into the importance of gene presence-absence variation (PAV) for disease resistance expression against Verticillium stem striping in oilseed rape

  • QTL analyses including presence/absence markers increased the power of detection for V. longisporum resistance in two B. napus breeding population

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Summary

Introduction

Duplication of genes followed by diversification is a common process shaping the evolution of plant species by natural and artificial (breeding) selection[1]. 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. The results provide a valuable example for the importance of pangenomic gene variation for breeding of a key trait in a major polyploid crop

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