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Exploiting the statistical associations coming out from a GWAS experiment to identify and validate candidate genes may be potentially difficult and time consuming. To fill the gap between the identification of candidate genes toward their functional validation onto the trait performance, the prioritization of variants underlying the GWAS-associated regions is necessary. In parallel, recent developments in genomics and statistical methods have been achieved notably in human genetic and they are accordingly being adopted in plant breeding toward the study of the genetic architecture of traits to sustain genetic gains. In this chapter, we aim at providing both theoretical and practical aspects underlying three main options including (1) the MetaGWAS analysis, (2) the statistical fine mapping and (3) the integration of functional data toward the identification and validation of candidate genes from a GWAS experiment.

International audience; Domestication is a human-induced selection process that imprints the genomes of domesticated populations over a short evolutionary time scale and that occurs in a given demographic context. Reconstructing historical gene flow, effective population size changes and their timing is therefore of fundamental interest to understand how plant demography and human selection jointly shape genomic divergence during domestication. Yet, the comparison under a single statistical framework of independent domestication histories across different crop species has been little evaluated so far. Thus, it is unclear whether domestication leads to convergent demographic changes that similarly affect crop genomes. To address this question, we used existing and new transcriptome data on three crop species of Solanaceae (eggplant, pepper and tomato), together with their close wild relatives. We fitted twelve demographic models of increasing complexity on the unfolded joint allele frequency spectrum for each wild/crop pair, and we found evidence for both shared and species-specific demographic processes between species. A convergent history of domestication with gene flow was inferred for all three species, along with evidence of strong reduction in the effective population size during the cultivation stage of tomato and pepper. The absence of any reduction in size of the crop in eggplant stands out from the classical view of the domestication process; as does the existence of a "protracted period" of management before cultivation. Our results also suggest divergent management strategies of modern cultivars among species as their current demography substantially differs. Finally, the timing of domestication is species-specific and supported by the few historical records available.

Tocochromanols constitute the different forms of vitamin E (VTE), essential components of the human diet, and display a high membrane protectant activity. By combining interval mapping and genome-wide association studies (GWAS), we unveiled the genetic determinants of tocochromanol accumulation in tomato (Solanum lycopersicum) fruits. To enhance the nutritional value of this highly consumed vegetable, we dissected the natural intraspecific variability of tocochromanols in tomato fruits and genetically engineered their biosynthetic pathway. These analyses allowed the identification of a total of 25 quantitative trait loci interspersed across the genome pinpointing the chorismate–tyrosine pathway as a regulatory hub controlling the supply of the aromatic head group for tocochromanol biosynthesis. To validate the link between the chorismate–tyrosine pathway and VTE, we engineered tomato plants to bypass the pathway at the arogenate branch point. Transgenic tomatoes showed moderate increments in tocopherols (up to approximately 20%) and a massive accumulation of tocotrienols (up to approximately 3400%). Gene expression analyses of these plants reveal a trade-off between VTE and natural variation in chorismate metabolism explained by transcriptional reprogramming of specific structural genes of the pathway. By restoring the accumulation of alpha-tocotrienols (α-t3) in fruits, the plants produced here are of high pharmacological and nutritional interest. Fil: Burgos, Estanislao. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Ciudad Universitaria. Instituto de Fisiología, Biología Molecular y Neurociencias. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Instituto de Fisiología, Biología Molecular y Neurociencias; Argentina Fil: de Luca, Maria Belén. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Ciudad Universitaria. Instituto de Fisiología, Biología Molecular y Neurociencias. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Instituto de Fisiología, Biología Molecular y Neurociencias; Argentina Fil: Diouf, Isidore. Centre Nouvelle - Aquitaine Bordeaux ; Instituto National de Recherches Agronomiques, Alimetation Et Environnement; Fil: de Haro, Luis Alejandro. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Ciudad Universitaria. Instituto de Fisiología, Biología Molecular y Neurociencias. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Instituto de Fisiología, Biología Molecular y Neurociencias; Argentina Fil: Albert, Elise. Michigan State University; Estados Unidos. Centre Nouvelle - Aquitaine Bordeaux ; Instituto National de Recherches Agronomiques, Alimetation Et Environnement; Fil: Sauvage, Christopher. Centre Nouvelle - Aquitaine Bordeaux ; Instituto National de Recherches Agronomiques, Alimetation Et Environnement; . Syngenta France SAS; Francia Fil: Tao, Zhao J.. Centre Nouvelle - Aquitaine Bordeaux ; Instituto National de Recherches Agronomiques, Alimetation Et Environnement; Fil: Bermudez Salazar, Luisa Fernanda. Instituto Nacional de Tecnología Agropecuaria. Centro Regional Buenos Aires; Argentina. Universidad de Buenos Aires. Facultad de Agronomía; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina Fil: Asís, Ramon. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Córdoba. Centro de Investigaciones en Bioquímica Clínica e Inmunología; Argentina Fil: Nesi, Adriano N.. Universidade Federal de Viçosa.; Brasil Fil: Matringe, Michel. Universite Joseph Fourier; Francia. Centre Nouvelle - Aquitaine Bordeaux ; Instituto National de Recherches Agronomiques, Alimetation Et Environnement; Fil: Bréhélin, Claire. Universite Joseph Fourier; Francia. Centre Nouvelle - Aquitaine Bordeaux ; Instituto National de Recherches Agronomiques, Alimetation Et Environnement; Fil: Guiraud, Thomas. Universite de Bordeaux; Francia. Centre Nouvelle - Aquitaine Bordeaux ; Instituto National de Recherches Agronomiques, Alimetation Et Environnement; Fil: Ferrand, Carine. Universite de Bordeaux; Francia. Centre Nouvelle - Aquitaine Bordeaux ; Instituto National de Recherches Agronomiques, Alimetation Et Environnement; Fil: Atienza, Isabelle. Universite de Bordeaux; Francia. Centre Nouvelle - Aquitaine Bordeaux ; Instituto National de Recherches Agronomiques, Alimetation Et Environnement; Fil: Jorly, Joana. Universite de Bordeaux; Francia. Centre Nouvelle - Aquitaine Bordeaux ; Instituto National de Recherches Agronomiques, Alimetation Et Environnement; Fil: Mauxion, Jean P.. Universite de Bordeaux; Francia. Centre Nouvelle - Aquitaine Bordeaux ; Instituto National de Recherches Agronomiques, Alimetation Et Environnement; Fil: Baldet, Pierre. Centre Nouvelle - Aquitaine Bordeaux ; Instituto National de Recherches Agronomiques, Alimetation Et Environnement; . Universite de Bordeaux; Francia Fil: Fernie, Alisdair R.. Institut Max Planck fur Molekulare Physiologie; Alemania Fil: Quadrana, Leandro. Inserm; Francia. Centre National de la Recherche Scientifique; Francia Fil: Rothan, Christophe. Universite de Bordeaux; Francia. Centre Nouvelle - Aquitaine Bordeaux ; Instituto National de Recherches Agronomiques, Alimetation Et Environnement; Fil: Causse, Mathilde. Centre Nouvelle - Aquitaine Bordeaux ; Instituto National de Recherches Agronomiques, Alimetation Et Environnement; Fil: Carrari, Fernando Oscar. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Ciudad Universitaria. Instituto de Fisiología, Biología Molecular y Neurociencias. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Instituto de Fisiología, Biología Molecular y Neurociencias; Argentina. Universidad de Buenos Aires; Argentina

International audience; In this study, we looked for genetic factors in the pepper (Capsicum annuum) germplasm that control the number of potato virus Y (PVY) particles entering the plant (i.e. effective population size at inoculation) and the PVY accumulation at the systemic level (i.e. census population size). Using genotyping-by-sequencing (GBS) in a core collection of 256 pepper accessions, we obtained 10 307 single nucleotide polymorphisms (SNPs) covering the whole genome. Genome-wide association studies (GWAS) detected seven SNPs significantly associated with the virus population size at inoculation and/or systemic level on chromosomes 4, 6, 9 and 12. Two SNPs on chromosome 4 associated with both PVY population sizes map closely to the major resistance gene pvr2 encoding the eukaryotic initiation factor 4E. No obvious candidates for resistance were identified in the confidence intervals for the other chromosomes. SNPs detected on chromosomes 6 and 12 colocalized with resistance quantitative trait loci (QTLs) previously identified with a biparental population. These results show the efficiency of GBS and GWAS in C. annuum, indicate highly consistent results between GWAS and classical QTL mapping, and suggest that resistance QTLs identified with a biparental population are representative of a much larger collection of pepper accessions. Moreover, the resistance alleles at these different loci were more frequently combined than expected by chance in the core collection, indicating widespread pyramiding of resistance QTLs and widespread combination of resistance QTLs and major effect genes. Such pyramiding may increase resistance efficiency and/or durability.

Tomato (Solanum lycopersicum L.) is an acknowledged model species for research in genetics and genomics, on fruit development and disease resistance, but it also deserves to be a model species for population genomics studies due to the availability of large genetic and genomic resources. In breeding, tomato breeding and genetic improvement largely depends on introgression of beneficial alleles from wild relative species. Since the first release of its high-quality genome sequence in 2012, the genomes of several hundreds of cultivated accessions and chosen wild relatives have been re-sequenced, allowing the discovery of millions single nucleotide polymorphisms (SNP). The study of these genomes confirmed the new phylogenetic organization of the tomato clade, Solanum section Lycopersicon, composed of 13 species. Recent population and ecological genomics approaches, notably using RNAseq approach, provided new results on speciation and interspecific reproductive barriers. The molecular mechanisms of adaptation to abiotic stress in cultivated and wild tomato species were also analysed and their roles underlined as factors of speciation and diversification. The diversity of ecological conditions of the wild relative species allowed the study of evolutionary and molecular mechanisms of adaptation to abiotic stress in crop and wild tomatoes.

Tomato flavor has changed over the course of long-term domestication and intensive breeding. To understand the genetic control of flavor, we report the meta-analysis of genome-wide association studies (GWAS) using 775 tomato accessions and 2,316,117 SNPs from three GWAS panels. We discover 305 significant associations for the contents of sugars, acids, amino acids, and flavor-related volatiles. We demonstrate that fruit citrate and malate contents have been impacted by selection during domestication and improvement, while sugar content has undergone less stringent selection. We suggest that it may be possible to significantly increase volatiles that positively contribute to consumer preferences while reducing unpleasant volatiles, by selection of the relevant allele combinations. Our results provide genetic insights into the influence of human selection on tomato flavor and demonstrate the benefits obtained from meta-analysis., Flavor is one of the most important traits for improving tomato sensory quality and consumer acceptability. Here, the authors report meta-analysis of genome-wide association studies of flavor related traits and show genetic insights into the influence of human selection during domestication and improvement.

UMR AGAP : ID / GE2pop; Plant domestication has led to considerable phenotypic modifications from wild species to modern varieties. However, although changes in key traits have been well documented, less is known about the underlying molecular mechanisms, such as the reduction of molecular diversity or global gene co-expression patterns. In this study, we used a combination of gene expression and population genetics in wild and crop tomato to decipher the footprints of domestication. We found a set of 1,729 differentially expressed genes (DEG) between the two genetic groups, belonging to 17 clusters of co-expressed DEG, suggesting that domestication affected not only individual genes but also regulatory networks. Five co-expression clusters were enriched in functional terms involving carbohydrate metabolism or epigenetic regulation of gene expression. We detected differences in nucleotide diversity between the crop and wild groups specific to DEG. Our study provides an extensive profiling of the rewiring of gene co-expression induced by the domestication syndrome in one of the main crop species.

We produced a unique large data set of reference transcriptomes to obtain new knowledge about the evolution of plant genomes and crop domestication. For this purpose, we validated a RNA-Seq data assembly protocol to perform comparative population genomics. For the validation, we assessed and compared the quality of de novo Illumina short-read assemblies using data from two crops for which an annotated reference genome was available, namely grapevine and sorghum. We used the same protocol for the release of 26 new transcriptomes of crop plants and wild relatives, including still understudied crops such as yam, pearl millet and fonio. The species list has a wide taxonomic representation with the inclusion of 15 monocots and 11 eudicots. All contigs were annotated using BLAST, prot4EST and Blast2GO. A strong originality of the data set is that each crop is associated with close relative species, which will permit whole-genome comparative evolutionary studies between crops and their wild-related species. This large resource will thus serve research communities working on both crops and model organisms. All the data are available at http://arcad-bioinformatics.southgreen.fr/.

Base composition is highly variable among and within plant genomes, especially at third codon positions, ranging from GC-poor and homogeneous species to GC-rich and highly heterogeneous ones (particularly Monocots). Consequently, synonymous codon usage is biased in most species, even when base composition is relatively homogeneous. The causes of these variations are still under debate, with three main forces being possibly involved: mutational bias, selection and GC-biased gene conversion (gBGC). So far, both selection and gBGC have been detected in some species but how their relative strength varies among and within species remains unclear. Population genetics approaches allow to jointly estimating the intensity of selection, gBGC and mutational bias. We extended a recently developed method and applied it to a large population genomic dataset based on transcriptome sequencing of 11 angiosperm species spread across the phylogeny. We found that at synonymous positions, base composition is far from mutation-drift equilibrium in most genomes and that gBGC is a widespread and stronger process than selection. gBGC could strongly contribute to base composition variation among plant species, implying that it should be taken into account in plant genome analyses, especially for GC-rich ones., Author summary In protein coding genes, base composition strongly varies within and among plant genomes, especially at positions where changes do not alter the coded protein (synonymous variations). Some species, such as the model plant Arabidopsis thaliana, are relatively GC-poor and homogeneous while others, such as grasses, are highly heterogeneous and GC-rich. The causes of these variations are still debated: are they mainly due to selective or neutral processes? Answering to this question is important to correctly infer whether variations in base composition may have functional roles or not. We extended a population genetics method to jointly estimate the different forces that may affect synonymous variations and applied it to genomic datasets in 11 flowering plant species. We found that GC-biased gene conversion, a neutral process associated with recombination that mimics selection by favouring G and C bases, is a widespread and stronger process than selection and that it could explain the large variation in base composition observed in plant genomes. Our results bear implications for analysing plant genomes and for correctly interpreting what could be functional or not.

Fruit quality is polygenic; each component has variable heritability and is difficult to assess. Genomic selection, which allows the prediction of phenotypes based on the whole-genome genotype, could vastly help to improve fruit quality. The goal of this study is to evaluate the accuracy of genomic selection for several metabolomic and quality traits by cross-validation and to estimate the impact of different factors on its accuracy. We analyzed data from 45 phenotypic traits and genotypic data obtained from a previous study of genetic association on a collection of 163 tomato accessions. We tested the influence of (1) the size of training population, (2) the number and density of molecular markers and (3) individual relatedness on the accuracy of prediction. The prediction accuracy of phenotypic values was largely related to the heritability of the traits. The size of training population increased the accuracy of predictions. Using 122 accessions and 5995 single nucleotide polymorphisms (SNPs) was the optimal condition. The density of markers and their numbers also affected the accuracy of the prediction. Using 2313 SNP markers distributed 0.1 cM or more apart from each other reduced the accuracy of prediction, and no gain in prediction accuracy was found when more markers were used in the model. Additionally, the more accessions were related, the more accurate were the predictions. Finally, the structure of the population negatively affected the prediction accuracy. In conclusion, the results obtained by cross-validation illustrated the effect of several parameters on the accuracy of prediction and revealed the potential of genomic selection in tomato breeding programs.

UMR AGAP - équipe GE²pop - Génomique évolutive et gestion des populations UMR AGAP - équipe AFEF - Architecture et fonctionnement des espèces fruitières; La diversité génétique des plantes cultivées à l'heure de l'informatique génétique à haut débit: génomique comparative de la domestication

Salmonid fishes rank among species being most severely affected by introgressive hybridization as a result of a long tradition of stocking with hatchery-reared conspecifics. The objectives of this study were (i) to evaluate the genetic consequences of stocking and resulting introgression rates on the genetic integrity of natural populations of brook charr, (ii) to identify genomic regions potentially associated with adaptation to natural and artificial rearing environments, and (iii) to test the null hypothesis that introgression from domesticated brook charr into wild populations is homogeneous among loci. A total of 336 individuals were sampled from nine lakes, which were stocked at different intensities with domestic fish. Individuals were genotyped at 280 SNPs located in transcribed regions and developed by means of next-generation sequencing. As previously reported with microsatellites, we observed a positive relationship between stocking intensity and genetic diversity among stocking groups, and a decrease in population differentiation. Individual admixture proportions also increased with stocking intensity. Moreover, genomic cline analysis revealed 27 SNPs, seven of which were also identified as outliers in a genome scan, which showed an introgression rate either more restricted or enhanced relative to neutral expectations. This indicated that selection, mainly for growth-related biological processes, has favored or hampered the introgression of genomic blocks into the introgressed wild populations. Overall, this study highlights the usefulness of investigating the impact of stocking on the dynamics of introgression of potentially adaptive genetic variation to better understand the consequences of such practice on the genomic integrity of wild populations.

A linkage map of 40 linkage groups (LGs) was developed for brook charr, Salvelinus fontinalis, using an F2 interstrain hybrid progeny (n = 171) and 256 coding gene SNP developed specifically for brook charr and validated from a large (>1000) subset of putative SNP, as well as 81 microsatellite markers. To identify quantitative trait loci (QTL) related to reproduction functions, these fish were also phenotyped at six physiological traits, including spermatozoid head diameter, sperm concentration, plasma testosterone, plasma 11-keto-testosterone, egg diameter, and plasma 17β-estradiol. Five significant QTL were detected over four LGs for egg diameter and plasma 17β-estradiol concentration in females, and sperm concentration as well as spermatozoid head diameter in males. In females, two different QTLs located on LG 11 and LG 34 were associated with the egg number, whereas one QTL was associated with plasma 17β-estradiol concentration (LG 8). Their total percent variance explained (PVE) was 26.7% and 27.6%, respectively. In males, two QTL were also detected for the sperm concentration, and their PVE were estimated at 18.58% and 14.95%, respectively. The low QTL number, associated with the high PVE, suggests that the variance in these reproductive physiological traits was either under the control of one major gene or a small number of genes. The QTL associated with sperm concentration, plasma 17β-estradiol, and egg diameter appeared to be under a dominance effect, whereas the two others were under a negative additive effect. These results show that genes underlying the phenotypic variance of these traits are under different modes of action (additive vs. dominance) and may be used to predict an increase or a decrease in their phenotypic values in subsequent generations of selective breeding. Moreover, this newly developed panel of mapped SNP located in coding gene regions will be useful for screening wild populations, especially in the context of investigating the genetic impact of massive stocking of domestic brook charr to support the angling industry throughout eastern North America.

Domestication has been practiced for centuries yet directed toward relatively few terrestrial crops and animals. While phenotypic and quantitative genetic changes associated with domestication have been amply documented, little is known about the molecular changes underlying the phenotypic evolution during the process. Here, we have investigated the brook charr (Salvelinus fontinalis) responses to artificial selection by means of transcriptional analysis of ∼32,000 cDNA features performed in both selected and control populations reared under identical environmental conditions during four generations. Our results indicate that selective breeding led to significant changes in the transcription of genes at the juvenile stage, where we observed 4.16% (156/3750) of differentially expressed genes between the two lines. No significant genes were revealed at the earlier life stage. Moreover, when comparing our results to those of previous studies on Atlantic salmon that compared lines that were selected for five to seven generations for similar traits (e.g., growth), genes with similar biological functions were found to be under selection in both studies. These observations indicate that (1) four generations of selection caused substantial changes in regulation of gene transcription between selected and control populations and (2) selective breeding for improving the same phenotypic traits (e.g., rapid growth) in brook charr and Atlantic salmon tended to select for the same changes in transcription profiles as the expression of a small and similar set of genes was affected by selection.

Quantitative trait loci (QTL) have been identified using traditional linkage mapping and positional cloning identified several QTLs. However linkage mapping is limited to the analysis of traits differing between two lines and the impact of the genetic background on QTL effect has been underlined. Genome-wide association studies (GWAs) were proposed to circumvent these limitations. In tomato, we have shown that GWAs is possible, using the admixed nature of cherry tomato genomes that reduces the impact of population structure. Nevertheless, GWAs success might be limited due to the low decay of linkage disequilibrium, which varies along the genome in this species. Multi-parent advanced generation intercross (MAGIC) populations offer an alternative to traditional linkage and GWAs by increasing the precision of QTL mapping. We have developed a MAGIC population by crossing eight tomato lines whose genomes were resequenced. We showed the potential of the MAGIC population when coupled with whole genome sequencing to detect candidate single nucleotide polymorphisms (SNPs) underlying the QTLs. QTLs for fruit quality traits were mapped and related to the variations detected at the genome sequence and expression levels. The advantages and limitations of the three types of population, in the context of the available genome sequence and resequencing facilities, are discussed., This work was supported by CEA-IG/CNG, by performing the DNA QC and providing access to INRA-EPGV to their Illumina Sequencing Platform. We acknowledge groups of Anne Boland (DNA and Cell Bank service) and Marie-Thérèse Bihoreau (Illumina HT Sequencing). The ANR MAGIC-Tom SNP project 09-GENM-109G and the European Solanaceae Integrated Project EUSOL (Food-CT-2006-016214) supported this work. LP was supported by a postdoctoral INRA fellowship, EA by an INRA PhD fellowship and JD by a grant from the Embassy of France in Thailand in Junior Research Fellowship Program 2014.

[EN] Background: Domestication modifies the genomic variation of species. Quantifying this variation provides insights into the domestication process, facilitates the management of resources used by breeders and germplasm centers, and enables the design of experiments to associate traits with genes. We described and analyzed the genetic diversity of 1,008 tomato accessions including Solanum lycopersicum var. lycopersicum (SLL), S. lycopersicum var. cerasiforme (SLC), and S. pimpinellifolium (SP) that were genotyped using 7,720 SNPs. Additionally, we explored the allelic frequency of six loci affecting fruit weight and shape to infer patterns of selection. Results: Our results revealed a pattern of variation that strongly supported a two-step domestication process, occasional hybridization in the wild, and differentiation through human selection. These interpretations were consistent with the observed allele frequencies for the six loci affecting fruit weight and shape. Fruit weight was strongly selected in SLC in the Andean region of Ecuador and Northern Peru prior to the domestication of tomato in Mesoamerica. Alleles affecting fruit shape were differentially selected among SLL genetic subgroups. Our results also clarified the biological status of SLC. True SLC was phylogenetically positioned between SP and SLL and its fruit morphology was diverse. SLC and “cherry tomato” are not synonymous terms. The morphologically-based term “cherry tomato” included some SLC, contemporary varieties, as well as many admixtures between SP and SLL. Contemporary SLL showed a moderate increase in nucleotide diversity, when compared with vintage groups. Conclusions: This study presents a broad and detailed representation of the genomic variation in tomato. Tomato domestication seems to have followed a two step-process; a first domestication in South America and a second step in Mesoamerica. The distribution of fruit weight and shape alleles supports that domestication of SLC occurred in the Andean region. Our results also clarify the biological status of SLC as true phylogenetic group within tomato. We detect Ecuadorian and Peruvian accessions that may represent a pool of unexplored variation that could be of interest for crop improvement., We are grateful to the gene banks for their collections that made this study possible. We thank Syngenta Seeds for providing genotyping data for 42 accessions. We would like to thank the Supercomputing and Bioinnovation Center (Universidad de Malaga, Spain) for providing computational resources to process the SNAPP phylogenetic tree. This research was supported in part by the USDA/NIFA funded SolCAP project under contract number to DF and USDA AFRI 2013-67013-21229 to EvdK and DF.

We will present a new functionality developed in GnpIS information system to manage association studies data (GWAS). A query form is available on http://urgi.versailles.inra.fr/gnpis portal and directly at this URL https://urgi.versailles.inra.fr/association/association/viewer.do#form. The tool allows plant scientists or breeders to get associations values between traits and markers obtained in several association studies. Several filters are available to refine the query, such as the species, trait (s), or marker (s) or panel of germplasms. The tool gives also the possibility in a second round of analysis, to add a new set of filters, i) on statistical values, or ii) on treatment done in the study, or iii) on the location and iv) year of the phenotyping trial or according to the v) statistical model chosen to do the analysis. It allows to view graphically the results with dedicated plots (QQPlot, Manhattan Plot), generated dynamically and to extract data in files to continue the analysis with external tools. After selecting the best markersassociated to trait of interest, the tool allows also to automatically jump on the genome to find where this marker is located on chromosomes and to identify in a very simpler way which genes or other markers or features of interest are near it. This tool is already now used for dealing GWAS studies (association, genotyping and phenotyping data) for 2 species: tomato and maize, data that are already referenced in two 2 publications and will also manage wheat data in 2015.

Genome-wide association studies have been successful in identifying genes involved in polygenic traits and are valuable for crop improvement. Tomato (Solanum lycopersicum) is a major crop and is highly appreciated worldwide for its health value. We used a core collection of 163 tomato accessions composed of S. lycopersicum, S. lycopersicum var cerasiforme, and Solanum pimpinellifolium to map loci controlling variation in fruit metabolites. Fruits were phenotyped for a broad range of metabolites, including amino acids, sugars, and ascorbate. In parallel, the accessions were genotyped with 5,995 single-nucleotide polymorphism markers spread over the whole genome. Genome-wide association analysis was conducted on a large set of metabolic traits that were stable over 2 years using a multilocus mixed model as a general method for mapping complex traits in structured populations and applied to tomato. We detected a total of 44 loci that were significantly associated with a total of 19 traits, including sucrose, ascorbate, malate, and citrate levels. These results not only provide a list of candidate loci to be functionally validated but also a powerful analytical approach for finding genetic variants that can be directly used for crop improvement and deciphering the genetic architecture of complex traits.

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Background Domestication and selection of crops have notably reshaped fruit morphology. With its large phenotypic diversity, tomato (Solanum lycopersicum) illustrates this evolutive trend. Genes involved in flower meristem development are known to regulate also fruit morphology. To decipher the genetic variation underlying tomato fruit morphology, we assessed the nucleotide diversity and selection footprints of candidate genes involved in flower and fruit development and performed genome-wide association studies. Results Thirty candidate genes were selected according to their similarity with genes involved in meristem development or their known causal function in Arabidopsis thaliana. In tomato, these genes and flanking regions were sequenced in a core collection of 96 accessions (including cultivated, cherry-type and wild relative accessions) maximizing the molecular diversity, using the Roche 454 technology. A total amount of 17 Mb was sequenced allowing the discovery of 6,106 single nucleotide polymorphisms (SNPs). The annotation of the 30 gene regions identified 231 exons carrying 517 SNPs. Subsequently, the nucleotide diversity (π) and the neutral evolution of each region were compared against genome-wide values within the collection, using a SNP array carrying 7,667 SNPs mainly distributed in coding sequences. About half of the genes revealed footprints of selection and polymorphisms putatively involved in fruit size variation by showing negative Tajima’s D and nucleotide diversity reduction in cultivated tomato compared to its wild relative. Among the candidates, FW2.2 and BAM1 sequences revealed selection footprints within their promoter regions suggesting their potential involvement in their regulation. Two associations co-localized with previously identified loci: LC (locule number) and Ovate (fruit shape). Conclusion Compared to whole genome genotypic data, a drastic reduction of nucleotide diversity was shown for several candidate genes. Strong selection patterns were identified in 15 candidates highlighting the critical role of meristem maintenance genes as well as the impact of domestication on candidates. The study highlighted a set of polymorphisms putatively important in the evolution of these genes. Electronic supplementary material The online version of this article (doi:10.1186/s12870-014-0279-2) contains supplementary material, which is available to authorized users.

The analysis of parentage using microsatellite markers is of increasing importance, notably in aquaculture genetic research where communal rearing of mixed families can be used to reduce unwanted environmental variance. We present here an optimization of parental genotype assessment for larvae or adults of the Pacific oyster, Crassostrea gigas, using a multiplex system of three microsatellite loci. In conjunction with a simple DNA extraction protocol, this method enables high throughput analyses of parentage in C. gigas. Using this method, we successfully determined the parentage of 93% (1224 out of 1318) of the progeny in a factorial cross between 3 females and 10 males. The inability to genotype the remaining 7% was due to DNA degradation of larvae rather than assignment uncertainty.

The commensal microbiota of fish skin is suspected to provide a protection against opportunist infections. The skin of fish harbors a complex and diverse microbiota that closely interacts with the surrounding water microbial communities. Up to now there is no clear evidence as to whether the host regulates the recruitment of environmental bacteria to build a specific skin microbiota. To address this question, we detected Quantitative Trait Loci (QTL) associated with the abundance of specific skin microbiota bacterial strains in brook charr (Salvelinus fontinalis), combining 16S RNA tagged-amplicon 454 pyrosequencing with genetic linkage analysis. Skin microbiota analysis revealed high inter-individual variation among 86 F2 fish progeny based upon the relative abundance of bacterial operational taxonomic units (OTUs). Out of those OTUs, the pathogenic strain Flavobacterium psychrophilum and the non-pathogenic strain Methylobacterium rhodesianum explained the majority of inter-individual distances. Furthermore, a strong negative correlation was found between Flavobacterium and Methylobacterium, suggesting a mutually competitive relationship. Finally, after considering a total of 266 markers, genetic linkage analysis highlighted three major QTL associated with the abundance of Lysobacter, Rheinheimera and Methylobacterium. All these three genera are known for their beneficial antibacterial activity. Overall, our results provide evidence that host genotype may regulate the abundance of specific genera among their surface microbiota. They also indicate that Lysobacter, Rheinheimera and Methylobacterium are potentially important genera in providing protection against pathogens.

Background One of the goals of genomics is to identify the genetic loci responsible for variation in phenotypic traits. The completion of the tomato genome sequence and recent advances in DNA sequencing technology allow for in-depth characterization of genetic variation present in the tomato genome. Like many self-pollinated crops, cultivated tomato accessions show a low molecular but high phenotypic diversity. Here we describe the whole-genome resequencing of eight accessions (four cherry-type and four large fruited lines) chosen to represent a large range of intra-specific variability and the identification and annotation of novel polymorphisms. Results The eight genomes were sequenced using the GAII Illumina platform. Comparison of the sequences with the reference genome yielded more than 4 million single nucleotide polymorphisms (SNPs). This number varied from 80,000 to 1.5 million according to the accessions. Almost 128,000 InDels were detected. The distribution of SNPs and InDels across and within chromosomes was highly heterogeneous revealing introgressions from wild species and the mosaic structure of the genomes of the cherry tomato accessions. In-depth annotation of the polymorphisms identified more than 16,000 unique non-synonymous SNPs. In addition 1,686 putative copy-number variations (CNVs) were identified. Conclusions This study represents the first whole genome resequencing experiment in cultivated tomato. Substantial genetic differences exist between the sequenced tomato accessions and the reference sequence. The heterogeneous distribution of the polymorphisms may be related to introgressions that occurred during domestication or breeding. The annotated SNPs, InDels and CNVs identified in this resequencing study will serve as useful genetic tools, and as candidate polymorphisms in the search for phenotype-altering DNA variations. Electronic supplementary material The online version of this article (doi:10.1186/1471-2164-14-791) contains supplementary material, which is available to authorized users.

Domestication of crop plants had effects on human lifestyle and agriculture. However, little is known about the underlying molecular mechanisms accompanying the changes in fruit appearance as a consequence of selection by early farmers. We report the fine mapping and cloning of a tomato (Solanum lycopersicum) fruit mass gene encoding the ortholog of KLUH, SlKLUH, a P450 enzyme of the CYP78A subfamily. The increase in fruit mass is predominantly the result of enlarged pericarp and septum tissues caused by increased cell number in the large fruited lines. SlKLUH also modulates plant architecture by regulating number and length of the side shoots, and ripening time, and these effects are particularly strong in plants that transgenically down-regulate SlKLUH expression carrying fruits of a dramatically reduced mass. Association mapping followed by segregation analyses revealed that a single nucleotide polymorphism in the promoter of the gene is highly associated with fruit mass. This single polymorphism may potentially underlie a regulatory mutation resulting in increased SlKLUH expression concomitant with increased fruit mass. Our findings suggest that the allele giving rise to large fruit arose in the early domesticates of tomato and becoming progressively more abundant upon further selections. We also detected association of fruit weight with CaKLUH in chile pepper (Capsicum annuum) suggesting that selection of the orthologous gene may have occurred independently in a separate domestication event. Altogether, our findings shed light on the molecular basis of fruit mass, a key domestication trait in tomato and other fruit and vegetable crops., We thank Dr. D. Choi (Seoul National University) for providing DNA sequence of chile pepper CaKLUH region; and Molecular and Cellular Imaging Center, The Ohio State University, for assistance with microscopy. This work was supported by National Science Foundation Grant IOS-0922661 (to E.v.d.K.).

The nature, size and distribution of the genomic regions underlying divergence and promoting reproductive isolation remain largely unknown. Here, we summarize ongoing efforts using young (12 000 yr BP) species pairs of lake whitefish ( Coregonus clupeaformis ) to expand our understanding of the initial genomic patterns of divergence observed during speciation. Our results confirmed the predictions that: (i) on average, phenotypic quantitative trait loci (pQTL) show higher F ST values and are more likely to be outliers (and therefore candidates for being targets of divergent selection) than non-pQTL markers; (ii) large islands of divergence rather than small independent regions under selection characterize the early stages of adaptive divergence of lake whitefish; and (iii) there is a general trend towards an increase in terms of numbers and size of genomic regions of divergence from the least (East L.) to the most differentiated species pair (Cliff L.). This is consistent with previous estimates of reproductive isolation between these species pairs being driven by the same selective forces responsible for environment specialization. Altogether, dwarf and normal whitefish species pairs represent a continuum of both morphological and genomic differentiation contributing to ecological speciation. Admittedly, much progress is still required to more finely map and circumscribe genomic islands of speciation. This will be achieved through the use of next generation sequencing data but also through a better quantification of phenotypic traits moulded by selection as organisms adapt to new environmental conditions.

International audience; Growth performance and reduced stress response are traits of major interest in fish production. Growth and stress-related quantitative trait loci (QTL) have been already identified in several salmonid species, but little effort has been devoted to charrs (genus Salvelinus). Moreover, most QTL studies to date focused on one or very few traits, and little investigation has been devoted to QTL identification for gene expression. Here, our objective was to identify QTL for 27 phenotypes related to growth and stress responses in brook charr (Salvelinus fontinalis), which is one of the most economically important freshwater aquaculture species in Canada. Phenotypes included 12 growth parameters, six blood and plasma variables , three hepatic variables, and one plasma hormone level as well as the relative expression measurements of five genes of interest linked to growth regulation. QTL analysis relied on a linkage map recently built from S. fontinalis consisting of both single-nucleotide polymorphism (SNP, n = 266) and microsatellite (n =81) markers in an F 2 interstrain hybrid population (n = 171). We identified 63 growth-related QTL and four stress-related QTL across 18 of the 40 linkage groups of the brook charr linkage map. Percent variance explained, confidence interval, and allelic QTL effects also were investigated to provide insight into the genetic architecture of growth-and stress-related QTL. QTL related to growth performance and stress response that were identified could be classified into two groups: (1) a group composed of the numerous, small-effect QTL associated with some traits related to growth (i.e., weight) that may be under the control of a large number of genes or pleiotropic genes, and (2) a group of less numerous QTL associated with growth (i.e., gene expression) and with stress-related QTL that display a larger effect, suggesting that these QTL are under the control of a limited number of genes of major effect. This study represents a first step toward the identification of genes potentially linked to phenotypic variation of growth and stress response in brook charr. The ultimate goal is to provide new tools for developing Molecular Assisted Selection for this species. KEYWORDS linkage mapping QTL detection single-nucleotide polymorphism growth stress response Salvelinus fontinalis Quantitative trait loci (QTL), the portions of a species' genome that affect the variation of heritable phenotypic traits, are revealed by the association of phenotypes with molecular markers. They provide insight into the number of loci affecting a trait and on the distribution of the QTL effects of each locus (Lynch and Walsh 1998). QTL analysis has become a popular method for studying the genetic basis of continuous variation in a variety of systems and is now an integral tool in medical genetics, livestock production, plant breeding, and population genetics of model organisms (Slate 2005). Thus, this approach is of great interest when studying experimental populations obtained from livestock species. Knowledge gained from these analyses can be used to improve traits of economic importance such as growth, resistance to pathogens, sexual maturation, or stress response through the clarification of their underlying genetic basis. Such information helps the development of selection programs aiming to improve efficiency

Summary Summer mortality is a phenomenon severely affecting the aquaculture production of the Pacific oyster (Crassostrea gigas). Although its causal factors are complex, resistance to mortality has been described as a highly heritable trait, and several pathogens including the virus Ostreid Herpes virus type 1 (OsHV-1) have been associated with this phenomenon. A QTL analysis for survival of summer mortality and OsHV-1 load, estimated using real-time PCR, was performed using five F2 full-sib families resulting from a divergent selection experiment for resistance to summer mortality. A consensus linkage map was built using 29 SNPs and 51 microsatellite markers. Five significant QTL were identified and assigned to linkage groups V, VI, VII and IX. Analysis of single full-sib families revealed differential QTL segregation between families. QTL for the two-recorded traits presented very similar locations, highlighting the interest of further study of their respective genetic controls. These QTL show substantial genetic variation in resistance to summer mortality, and present new opportunities for selection for resistance to OsHV-1.

Background Although bivalves are among the most-studied marine organisms because of their ecological role and economic importance, very little information is available on the genome sequences of oyster species. This report documents three large-scale cDNA sequencing projects for the Pacific oyster Crassostrea gigas initiated to provide a large number of expressed sequence tags that were subsequently compiled in a publicly accessible database. This resource allowed for the identification of a large number of transcripts and provides valuable information for ongoing investigations of tissue-specific and stimulus-dependant gene expression patterns. These data are crucial for constructing comprehensive DNA microarrays, identifying single nucleotide polymorphisms and microsatellites in coding regions, and for identifying genes when the entire genome sequence of C. gigas becomes available. Description In the present paper, we report the production of 40,845 high-quality ESTs that identify 29,745 unique transcribed sequences consisting of 7,940 contigs and 21,805 singletons. All of these new sequences, together with existing public sequence data, have been compiled into a publicly-available Website http://public-contigbrowser.sigenae.org:9090/Crassostrea_gigas/index.html. Approximately 43% of the unique ESTs had significant matches against the SwissProt database and 27% were annotated using Gene Ontology terms. In addition, we identified a total of 208 in silico microsatellites from the ESTs, with 173 having sufficient flanking sequence for primer design. We also identified a total of 7,530 putative in silico, single-nucleotide polymorphisms using existing and newly-generated EST resources for the Pacific oyster. Conclusion A publicly-available database has been populated with 29,745 unique sequences for the Pacific oyster Crassostrea gigas. The database provides many tools to search cleaned and assembled ESTs. The user may input and submit several filters, such as protein or nucleotide hits, to select and download relevant elements. This database constitutes one of the most developed genomic resources accessible among Lophotrochozoans, an orphan clade of bilateral animals. These data will accelerate the development of both genomics and genetics in a commercially-important species with the highest annual, commercial production of any aquatic organism.

Ostreid herpes virus 1 (OsHV-1) infections, notably reported in Europe and the USA, are closely associated with significant mortalities of the Pacific oyster, Crassostrea gigas, especially during its early stages of life. In summer 2006, we monitored mortality by strict daily verification of three full-sib families of oysters reared under common conditions. We quantified OsHV-1 using real-time PCR in dead and living individuals during and after a mortality event. Mortality events were severe and brief, but significantly different between tested families (cumulative mortality ranging from 1.2 to 49%). Real-time PCR assays revealed different viral DNA loads in dead individuals from different families (P < 0.001). Moreover, the mean level of infection among families was correlated with mortality (P < 0.05). Living oysters showed a significantly lower amount of viral DNA compared with dead ones. This is the first experiment showing the daily changes of individual OsHV-1 DNA load during a mortality outbreak. Our results also support the previously reported high genetic basis underlying the variance of resistance of Pacific oyster to summer mortality, suggesting that there might be a possibility to improve resistance to OsHV-1 by selective breeding.

International audience; DNA sequence polymorphism and codon usage bias were investigated in a set of 41 nuclear loci in the Pacific oyster Crassostrea gigas. Our results revealed a very high level of DNA polymorphism in oysters, in the order of magnitude of the highest levels reported in animals to date. A total of 290 single nucleotide polymorphisms (SNPs) were detected, 76 of which being localised in exons and 214 in non-coding regions. Average density of SNPs was estimated to be one SNP every 60 bp in coding regions and one every 40 bp in non-coding regions. Non-synonymous substitutions contributed substantially to the polymorphism observed in coding regions. The non-synonymous to silent diversity ratio was 0.16 on average, which is fairly higher to the ratio reported in other invertebrate species recognised to display large population sizes. Therefore, purifying selection does not appear to be as strong as it could have been expected for a species with a large effective population size. The level of non-synonymous diversity varied greatly from one gene to another, in accordance with varying selective constraints. We examined codon usage bias and its relationship with DNA polymorphism. The table of optimal codons was deduced from the analysis of an EST dataset, using EST counts as a rough assessment of gene expression. As recently observed in some other taxa, we found a strong and significant negative relationship between codon bias and non-synonymous diversity suggesting correlated selective constraints on synonymous and non-synonymous substitutions. Codon bias as measured by the frequency of optimal codons for expression might therefore provide a useful indicator of the level of constraint upon proteins in the oyster genome.

Sequence Evolution in Salmonids Through NGS Data Mining Christopher Sauvage,* Sebastien Renaut, Eric Normandeau, Nicolas Derome, and Louis Bernatchez Departement de Biologie, Institut de Biologie Integrative et des Systemes, Universite Laval, Quebec, Canada Department of Botany, University of British Columbia, Vancouver, British Columbia, Canada *Corresponding author: E-mail: christopher.sauvage.1@ulaval.ca. Associate editor: Douglas Crawford

Consumers have been complaining about tomato flavor for decades. Tomato taste is mainly influenced by sugars, acids and a diverse set of volatiles. Improving tomato flavor remains one of the main challenges for improving tomato sensory quality and consumer acceptability in modern tomato breeding. The main purpose of this thesis was to decipher the genetic and evolutionary control of tomato flavor by using high density SNPs and a diverse set of flavor-related metabolites, including sugars, acids, amino acids and volatiles. In the first part, I performed multiple haplotype-based analyses on a tomato core collection. Several approaches were used and compared to identify the genomic regions under selection. Haplotype and SNP-based Bayesian models identified 108 significant associations for 26 traits. Among these associations, some promising candidate genes were identified. I also compared marker local haplotype sharing (mLHS) with LD in determining the candidate regions. In addition, some general benefits of using haplotypes were also provided as general discussions. In the second part, I pioneered in introducing meta-analysis of genome-wide association studies using three tomato association panels. I demonstrated the efficiency of genotype imputation in increasing the genome-wide SNP coverage. Both fixed-effect and random-effect models (for those SNPs with heterogeneity I2 > 25) of meta-analysis were performed in order to control cross-study heterogeneity. A total of 305 significant loci were identified and 211 of which were new. Among them, 24 loci exhibited cis-eQTLs in a previous transcriptome-wide association study in fruit tissue. Enrichment analysis for all associations showed that up to 10 biological processes were significantly enriched and all of which were closely involved in flavor-related metabolites. A list of promising candidate genes was provided, which could be of great interest for functional validation. I also demonstrated the possibility to significantly increase the content of volatiles that positively contribute to consumer preferences while reducing unpleasant volatiles, by selection of the relevant allele combinations. Taken together, this thesis provides a comprehensive knowledge of the genetic control of tomato flavor, which will promote its improvement.; Les consommateurs se plaignent de la qualité gustative des tomates depuis des décennies. Celle-ci est influencée principalement par les sucres, les acides et un ensemble de divers composés volatils. L’amélioration de la saveur de la tomate reste l’un des principaux défis à relever pour améliorer la qualité de la tomate et l’acceptabilité des consommateurs pour l’amélioration moderne des tomates. Le but principal de cette thèse était de disséquer le contrôle génétique de la saveur de la tomate en utilisant des SNP à haute densité et un ensemble divers de traits liés à la saveur, notamment les sucres, les acides, les acides aminés et les composés volatils. Dans la première partie, j'ai effectué plusieurs analyses basées sur l’exploration des haplotypes dans une collection d’accessions. Plusieurs approches ont été utilisées et comparées pour identifier les régions génomiques en cours de sélection. Les modèles bayésiens de génétique d’association basés sur les haplotypes et une partie des SNP ont identifié 108 associations significatives pour 26 caractères. Parmi ces associations, certains gènes candidats prometteurs ont été identifiés. Certains avantages de l’utilisation des haplotypes ont également été présentés. Dans la deuxième partie, j'ai réalisé une méta-analyse d'études d'association pangénomique à l'aide de trois panels d'associations de tomates. J'ai démontré l'efficacité de l'imputation des génotypes pour augmenter la couverture de SNP à l'échelle du génome. Des méta-analyses de modèles à effets fixes et à effets aléatoires (pour les SNP présentant une hétérogénéité I2 > 25) ont été effectuées afin de contrôler l'hétérogénéité croisée des études. Au total, 305 locus significatifs ont été identifiés, dont 211 nouveaux. Parmi ceux-ci, 24 locus ont présenté des cis-eQTL lors d'une précédente étude d'association à l'échelle du transcriptome de fruits. L'analyse d'enrichissement pour toutes les associations a montré que jusqu'à 10 processus biologiques étaient enrichis de manière significative et que tous étaient étroitement impliqués dans les métabolites liés aux arômes. Une liste de gènes candidats prometteurs a été fournie, qui pourraient présenter un grand intérêt pour la validation fonctionnelle. J'ai également démontré la possibilité d'augmenter de manière significative le contenu en composés volatils qui contribuent de manière positive aux préférences des consommateurs tout en réduisant les volatils désagréables, en sélectionnant les combinaisons d'allèles pertinentes. Globalement, cette thèse augmente les connaissances du contrôle génétique du goût de la tomate, ce qui devrait contribuer à son amélioration.

Domestication started thousand years ago when human shifted from hunter-gatherer to agrarian societies. They started selecting wild plants for phenotypes related to consumption andyield. This evolutionary process induced changes in the gene pool of domesticated plants. This thesis focuses on genetic footprints induced by domestication within a trio of Solanaceae species: the eggplant (Solanum melongena), the pepper (Capsicum annuum) and the tomato (S. lycopersicum).Crop plants have been selected for thousand years on phenotypic traits, but the molecularconsequences of such selection remain unknown at the genome-wide scale. The study was performed on a RNAseq data set; using comparative methods between crops and their wild relatives,I studied, at the intra-specific scale, the demographic history, and, both the nucleotide diversity and the gene expression changes due to domestication. Comparing these three independent events ofdomestication, is a great opportunity to decipher the interspecific genetic changes, converging for the three species, during the human selection process.The first chapter is a book chapter about population genomics in model species. It details thestate of art of hundred years of research on tomato as model species (S. lycopersicum). Tomato is amodel species in genetics, as well as in population genomics thanks to the important collection of genomic data that have been accumulating over years. Tomato has the strongest economic importance within the trio of studied species. By highlighting the importance of crop wild relative species for adaptability improvement of modern cultivars, this chapter describes the scientific context of this thesis work.The two next chapters are following these researches and show the importance to both conserve and study the crop wild relative species.In the second chapter, I hypothesize that demographic changes within the three species experience a convergence, despite their independent domestication events. The comparative studyof demographic inferences allows the reconstruction of each domesticated species demographichistory. Theses inferences facilitate the parameter estimations such as the migration rate between crop and wild, the bottleneck strength paired with the human selection and the duration of thedomestication events. This chapter reveals a common bottleneck phenomenon as well as migration rate dependent to the allopatric or sympatric state of the crops with their wild relatives. Knowledge concerning the domestication events dating, for each of the three species, remain poorly studied and this thesis work discloses relative domestication time durations.These new insights bring valuable knowledge to the three species and induce a questioning on thedifferent genome parts that are selected and modified through domestication.The third chapter, test the hypothesis of a convergent evolution of molecular changes,especially transcriptional, induced by domestication and modern breeding. The comparative analysis of crop plants and their wild relatives assesses the convergence of regulation and adaptation mechanisms due to domestication. By testing the correlation between the selection footprints on genes and the gene expression changes in crop compared to their wild relative species, the previous hypothesis was confirmed. This analysis implies that domestication modified gene expression in the three species beyond only nucleotide polymorphisms. The ortholog analysis of our species genes, confirmed that domestication facilitated the fruit development and plant growth but relaxed selective pressure on genes of plant defense and environmental stresses tolerance. Demonstrating demographic changes and molecular footprints of domestication, my PhD thesis highlights several proofs of convergence.; La domestication des plantes a débuté il y a quelques milliers d’années quand les hommes se sont sédentarisés. Ils ont sélectionné les plantes sauvages portant des caractères phénotypiques d’intérêt pour la consommation et production humaine. Ce processus évolutif a par conséquent modifié le patrimoine génétique des espèces domestiquées. Cette thèse se penche sur les traces génétiques induites par la domestication chez trois espèces de Solanacées : l’aubergine (Solanummelongena), le piment (Capsicum annuum) et la tomate (S. lycopersicum). En effet, si les caractères phénotypiques des plantes cultivées ont été sélectionnés depuis des milliers d’années, les conséquences moléculaires d’une telle sélection restent peu étudiées à l'échelle du génome. Cette étude est basée sur des données de diversité et d’expression de gènes (RNAseq). En utilisant des méthodes comparatives entre des variétés cultivées et leurs espèces sauvages apparentées, j’a iétudié, à l’échelle intra-spécifique, d’une part les histoires démographiques de chacune des espèces,et d’autre part les changements de diversité nucléotidique et d’expression des gènes dus à la domestication. La comparaison de ces trois événements indépendants de domestication, offre l’opportunité de décrypter les changements génétiques qui convergent chez ces trois espèces lors du processus de sélection humaine.Suite à une introduction qui pose le cadre de cette étude et présente l’état de l’art, le premier chapitre, s’inscrit dans un ouvrage portant sur la génomique des populations d’espèces modèles. Il propose une synthèse des connaissances accumulées en plus d’un siècle de recherche sur l’espèce modèle qu’est la tomate (S. lycopersicum). Ce chapitre permet également de compléter le contexte scientifique dans lequel cette thèse s’inscrit, notamment, en retraçant l’importance que les espèces sauvages apparentées ont eu dans l’amélioration de l’adaptabilité des variétés cultivées actuelles.L’hypothèse du deuxième chapitre révèle la convergence des changements démographiques entre les trois espèces malgré leurs événements indépendants de domestication. L’étude comparée d’inférences de scénarios démographiques a permis de reconstruire l’histoire démographique de chaque espèce cultivée. Ces inférences ont aussi facilité l’estimation des paramètres tels que les flux migratoires entre les espèces sauvages et cultivées, la force des goulots d’étranglement liés à l’intensité de la sélection humaine et la durée des événements de domestication. Ce chapitre permet de démontrer que les changements démographiques liés à la domestication dépendent de l’état de sympatrie ou d’allopatrie des variétés cultivées avec leurs sauvages apparentées. Les connaissances quant à la datation des événements de domestication de nos trois espèces restent très faibles, et les inférences ont permis d’établir des estimations de durée de domestication relativement précise. Ces nouvelles connaissances apportent une plus-value à cette étude pour nos trois espèces et nous invitent à s’interroger sur les différents compartiments du génome qui ont été sélectionnées et modifiées lors de la domestication.Le troisième chapitre teste l’hypothèse d’une convergence évolutive des changements moléculaires, notamment transcriptionnels, induits par la domestication et l’amélioration moderne.La comparaison des variétés cultivées à leurs espèces sauvages apparentées permet d’évaluer la convergence des mécanismes de régulation et d’adaptation liés à la domestication. C’est en testant la corrélation entre les traces génétiques (diversité nucléotidique) de sélection et les changements d’expression des gènes observés chez les variétés cultivées que l’hypothèse de départ a été validée.Cette analyse montre que la domestication, au-delà même de changements nucléotidiques, a modifié l’expression des gènes chez les trois espèces.

Master; La sélection pour améliorer les caractères d’intérêts agronomiques est réalisée à l’aide de la SAM ou de la GWA qui capturent difficilement les loci à effets mineurs, et grâce à des étapes de phénotypage souvent longues et couteuses. La sélection génomique (SG) est une méthode de prédiction de la performance des caractères via des modèles statistiques pour sélectionner des plantes élites dans un schéma de sélection, en estimant l’effet de tous les marqueurs qui sous-tendent l’architecture génétique des caractères étudiés. Nous avons évalué l’utilisation de la SG chez la tomate en estimant la précision de la prédiction pour 25 caractères liés à la qualité du fruit pour trois types de populations différentes (GWA, MAGIC et RIL). Une démarche de validation croisée a été menée en estimant le poids de paramètres (taille des populations d’entrainement (PE) et de validation (PV), interactions GxE, modèles statistiques prédictifs, densité de marquage, héritabilité des caractères, type de population) sur la précision de la prédiction. Nos résultats démontrent que l’approche SG semble puissante pour prédire les valeurs phénotypiques (avec des précisions allant de 0.32 à 0.93 lorsque la PE est optimisée, par exemple). Nous observons que (1) plus la PE est grande et plus elle contient des individus proches génétiquement et ayant été phénotypés dans des environnements similaires par rapport à la PV, plus la précision de la prédiction est élevée (2) la précision de la prédiction est plus élevée avec l’optimisation de la PE avec une grande diversité génétique (+ 9% en moyenne) (3) plus l’héritabilité du caractère est élevée, meilleure est la prédiction (4) les différents modèles statistiques conduisent à des prédictions très similaires (5) la densité de marqueurs optimale dépend du DL de la population. Pour conclure, bien que la SG soit une pratique qui n’en est qu’à ses débuts en ce qui concerne le monde du végétal l’application de la SG chez la tomate semble très prometteuse et pourrait être utilisée dans les programmes de sélection