1. Sequence analysis of European maize inbred line F2 provides new insights into molecular and chromosomal characteristics of presence/absence variants
- Author
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Aude Darracq, Clémentine Vitte, Stéphane Nicolas, Jorge Duarte, Jean-Philippe Pichon, Tristan Mary-Huard, Céline Chevalier, Aurélie Bérard, Marie-Christine Le Paslier, Peter Rogowsky, Alain Charcosset, Johann Joets, Génétique Quantitative et Evolution - Le Moulon (Génétique Végétale) (GQE-Le Moulon), Centre National de la Recherche Scientifique (CNRS)-AgroParisTech-Université Paris-Sud - Paris 11 (UP11)-Institut National de la Recherche Agronomique (INRA), BIOGEMMA, Mathématiques et Informatique Appliquées (MIA-Paris), AgroParisTech-Institut National de la Recherche Agronomique (INRA), Etude du Polymorphisme des Génomes Végétaux (EPGV), Institut National de la Recherche Agronomique (INRA), Reproduction et développement des plantes (RDP), Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Recherche Agronomique (INRA)-École normale supérieure - Lyon (ENS Lyon), CNV_Maize program ANR-10-GENM-0003, Investment for the Future Amaizing program ANR-10-BTBR-01-01, France Agrimer, Institut National de la Recherche Agronomique (INRA)-Université Paris-Sud - Paris 11 (UP11)-AgroParisTech-Centre National de la Recherche Scientifique (CNRS), Institut National de la Recherche Agronomique (INRA)-AgroParisTech, École normale supérieure de Lyon (ENS de Lyon)-Institut National de la Recherche Agronomique (INRA)-Université Claude Bernard Lyon 1 (UCBL), and Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)
- Subjects
Double strand break repair (DSBR) ,[SDV.BIO]Life Sciences [q-bio]/Biotechnology ,lcsh:QH426-470 ,DNA Copy Number Variations ,lcsh:Biotechnology ,Microhomology mediated end joining (MMEJ) ,Biotechnologies ,maize ,european germplasm ,structural variation ,de novo assembly ,presence absence variation (PAV) ,genetic diversity ,microhomology mediated end joining (MMEJ) ,double strand break repair (DSBR) ,linkage disequilibrium ,pan-genome ,Poaceae ,Pan-genome ,Zea mays ,Chromosomes, Plant ,Linkage Disequilibrium ,Genetic diversity ,Evolution, Molecular ,lcsh:TP248.13-248.65 ,De novo assembly ,European germplasm ,Inbreeding ,Presence absence variation (PAV) ,Computational Biology ,Genetic Variation ,Genomics ,Sequence Analysis, DNA ,Maize ,lcsh:Genetics ,DNA Transposable Elements ,Structural variation ,Genome, Plant ,Research Article - Abstract
Background 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. Results 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. Conclusions 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. Electronic supplementary material The online version of this article (10.1186/s12864-018-4490-7) contains supplementary material, which is available to authorized users.
- Published
- 2017
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