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Sequence analysis of European maize inbred line F2 provides new insights into molecular and chromosomal characteristics of presence/absence variants.

ABSTRACT: Maize is well known for its exceptional structural diversity, including copy number variants (CNVs) and presence/absence variants (PAVs), and there is growing evidence for the role of structural variation in maize adaptation. While PAVs have been described in this important crop species, they have been only scarcely characterized at the sequence level and the extent of presence/absence variation and relative chromosomal landscape of inbred-specific regions remain to be elucidated.De novo genome sequencing of the French F2 maize inbred line revealed 10,044 novel genomic regions larger than 1 kb, making up 88 Mb of DNA, that are present in F2 but not in B73 (PAV). This set of maize PAV sequences allowed us to annotate PAV content and to analyze sequence breakpoints. Using PAV genotyping on a collection of 25 temperate lines, we also analyzed Linkage Disequilibrium in PAVs and flanking regions, and PAV frequencies within maize genetic groups.We highlight the possible role of MMEJ-type double strand break repair in maize PAV formation and discover 395 new genes with transcriptional support. Pattern of linkage disequilibrium within PAVs strikingly differs from this of flanking regions and is in accordance with the intuition that PAVs may recombine less than other genomic regions. We show that most PAVs are ancient, while some are found only in European Flint material, thus pinpointing structural features that may be at the origin of adaptive traits involved in the success of this material. Characterization of such PAVs will provide useful material for further association genetic studies in European and temperate maize.

SUBMITTER: Darracq A

PROVIDER: S-EPMC5800051 | biostudies-literature | 2018 Feb

REPOSITORIES: biostudies-literature

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Sequence analysis of European maize inbred line F2 provides new insights into molecular and chromosomal characteristics of presence/absence variants.

Darracq Aude A Vitte Clémentine C Nicolas Stéphane S Duarte Jorge J Pichon Jean-Philippe JP Mary-Huard Tristan T Chevalier Céline C Bérard Aurélie A Le Paslier Marie-Christine MC Rogowsky Peter P Charcosset Alain A Joets Johann J

BMC genomics 20180205 1

<h4>Background</h4>Maize is well known for its exceptional structural diversity, including copy number variants (CNVs) and presence/absence variants (PAVs), and there is growing evidence for the role of structural variation in maize adaptation. While PAVs have been described in this important crop species, they have been only scarcely characterized at the sequence level and the extent of presence/absence variation and relative chromosomal landscape of inbred-specific regions remain to be elucida ...[more]

PMID: 29402214

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Project description:Understanding genetic characteristics can reveal the genetic diversity in maize and be used to explore evolutionary mechanisms and gene cloning. A high-density linkage map was constructed to determine recombination rates (RRs), segregation distortion regions (SDRs), and recombinant blocks (RBs) in two recombinant inbred line populations (RILs) (B73/By804 and Zong3/87-1) generated by the single seed descent method. Population B73/By804 containing 174 lines were genotyped with 198 simple sequence repeats (SSRs) markers while population Zong3/87-1 comprised of 175 lines, were genotyped with 210 SSR markers along with 1536 single nucleotide polymorphism (SNP) markers for each population, spanning 1526.7 cM and 1996.2 cM in the B73/By804 and Zong3/87-1 populations, respectively. The total variance of the RR in the whole genome was nearly 100 fold, and the maximum average was 10.43-11.50 cM/Mb while the minimum was 0.08-0.10 cM/Mb in the two populations. The average number of RB was 44 and 37 in the Zong3/87-1 and B73/By804 populations, respectively, whereas 28 SDRs were observed in both populations. We investigated 11 traits in Zong3/87-1 and 10 traits in B73/By804. Quantitative trait locus (QTLs) mapping of SNP+SSR with SNP and SSR marker sets were compared to showed the impact of different density markers on QTL mapping and resolution. The confidence interval of QTL Pa19 (FatB gene controlling palmitic acid content) was reduced from 3.5 Mb to 1.72 Mb, and the QTL Oil6 (DGAT1-2 gene controlling oil concentration) was significantly reduced from 10.8 Mb to 1.62 Mb. Thus, the use of high-density markers considerably improved QTL mapping resolution. The genetic information resulting from this study will support forthcoming efforts to understand recombination events, SDRs, and variations among different germplasm. Furthermore, this study will facilitate gene cloning and understanding of the fundamental sources of total variation and RR in maize, which is the most widely cultivated cereal crop.

Project description:BackgroundMaize (Zea Mays L.) is one of the most important cereal crops worldwide and provides food for billions of people. Stalk lodging can greatly undermine the standability of maize plants and therefore decrease crop yields. Rind penetrometer resistance is an effective and reliable method for evaluating maize stalk strength, which is highly correlated with stalk lodging resistance. In this study, two recombinant inbred line populations were constructed from crosses between the H127R and Chang7-2 lines, and between the B73 and By804 lines. We genotyped these two populations and their parents using 3,072 single nucleotide polymorphism markers and performed phenotypic assessment of rind penetrometer resistance in multiple environments to dissect the genetic architecture of rind penetrometer resistance in maize.ResultsBased on two linkage maps of 1,397.1 and 1,600.4 cM with average interval of 1.7 and 2.1 cM between adjacent makers, respectively, seven quantitative trait loci (QTL) for rind penetrometer resistance were detected in the two recombinant inbred line populations. These QTL were distributed in seven genomic regions, and each accounted for 4.4-18.9% of the rind penetrometer resistance variation. The QTL with the largest effect on rind penetrometer resistance, qRPR3-1, was located on chromosome 3 with the flanking markers PZE-103123325 and SYN23245. This locus was further narrowed down to a 3.1-Mb interval by haplotype analysis using high-density markers in the target region. Within this interval, four genes associated with the biosynthesis of cell wall components were considered as potential candidate genes for the rind penetrometer resistance effect.ConclusionsThe inheritance of rind penetrometer resistance is rather complex. A few large-effect quantitative trait loci, together with a several minor-effect QTL, contributed to the phenotypic variation in rind penetrometer resistance in the two recombinant inbred line populations that were examined. A potential approach for improving stalk strength and crop yields in commercial maize lines may be to introgress favorable alleles of the locus that was found to have the largest effect on rind penetrometer resistance (qRPR3-1).

Dataset Information

Sequence analysis of European maize inbred line F2 provides new insights into molecular and chromosomal characteristics of presence/absence variants.

Publications

Sequence analysis of European maize inbred line F2 provides new insights into molecular and chromosomal characteristics of presence/absence variants.

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