Underlying Candidate Genes Research Articles

Mapping loci controlling fatty acid profiles, oil and protein content by genome-wide association study in Brassica napus

Optimizing the profile and quantity of fatty acids in rapeseed (Brassica napus L.) is critical for maximizing the value of edible oil and biodiesel. However, selection of these complex seed quality traits is difficult before haplotypes controlling their contents are identified. To efficiently identify genetic loci influencing these traits and underlying candidate genes and networks, we performed a genome-wide association study (GWAS) of eight seed quality traits (oil and protein content, palmitic, stearic, oleic, linoleic, eicosenoic and erucic acids content). The GWAS population comprised 370 diverse accessions, which were phenotyped in five environments and genotyped using 60K SNP arrays. The results indicated that oil and protein contents generally showed negative correlations, while fatty acid contents showed positive or negative correlations, with palmitic and erucic acid contents directly affecting oil content. Seven SNPs on five chromosomes were associated with both seed oil and protein content, and five genes orthologous to genes in Arabidopsis thaliana were predicted as candidates. From resequencing data, besides known haplotypes in BnaA.FAE1.a and BnaC.FAE1.a, three accessions harboring a new haplotype conferring moderate erucic acid content were identified. Interestingly, in a haplotype block, one haplotype was associated with high palmitic acid content and low oil content, while the others showed the reverse effects. This finding was consistent with a negative correlation between palmitic acid and oil contents, suggesting historical selection for high oil content. The identification by this study of genetic variation and complex correlations of eight seed quality traits may be beneficial for crop selection strategies.

Assessment of Marker-trait Associations for Drought and Heat Tolerance in Bread Wheat

Abiotic stresses are major constraints to wheat productivity in many parts of the world. Tolerance to abiotic stresses can be achieved indirectly by selection for morpho-physiological traits. Physiological trait based breeding has been associated with improved performance under stress; and hence can combat and adapt wheat to drought and heat stress. Therefore, in the present study, phenotyping was carried out for agro-physiological traits in 52 diverse wheat germplasm lines under timely sown, rainfed and late sown environments for two years. Mean yield of the genotypes over the six environments were positively correlated with NDVI, days to maturity and negatively correlated with canopy temperature. The phenotypic data validated marker-trait associations of a number of meta-QTLs identified earlier for different physiological and agronomic traits. Six and seven meta-QTL genomic regions were found to be consistent in their expression for two years under rainfed/restricted irrigation and late sown environments, respectively. Expression analysis of the underlying candidate gene AK248593.1 in meta-QTL26 region revealed two folds higher expression in the NILs carrying the co-localized SSR markers. The linked markers of the thirteen meta-QTL regions associated with different traits can be used for effective transfer of the QTLs through marker assisted selection in wheat breeding programmes.

Effect of qGN4.1 QTL for Grain Number per Panicle in Genetic Backgrounds of Twelve Different Mega Varieties of Rice

BackgroundRice is a major source of food, particularly for the growing Asian population; hence, the utilization of genes for enhancing its yield potential is important for ensuring food security. Earlier, we have mapped a major quantitative trait loci (QTL) for the grain number per panicle, qGN4.1, using biparental recombinant inbred line (RIL) populations involving a new plant type Indica rice genotype Pusa 1266. Later, three independent studies have confirmed the presence of a major QTL for spikelet number by three different names (SPIKE, GPS and LSCHL4) in the same chromosomal region, and have implicated the overexpression of Nal1 gene as the causal factor for high spikelet number. However, the effect of qGN4.1 in different rice genetic backgrounds and expression levels of the underlying candidate genes is not known.ResultsHere, we report the effect of qGN4.1 QTL in the genetic backgrounds of 12 different high-yielding mega varieties of rice, introgressed by marker assisted-backcross breeding (MABB) using two QTL positive markers for foreground selection and two QTL negative flanking markers for recombinant selection together with phenotypic selection for the recovery of recipient parent genetic background. Analysis of the performance of BC2F3 plants showed a significant increase in the average number of well-filled grains per panicle in all the backgrounds, ranging from 21.6 in CSR 30-GN4.1 to 147.6 in Samba Mahsuri-GN4.1. Furthermore, qGN4.1 caused a significant increase in flag leaf width and panicle branching in most backgrounds. We identified BC3F3qGN4.1 near-isogenic lines (NILs) with 92.0–98.0% similarity to the respective recipient parent by background analysis using a 50 K rice SNP genotyping chip. Three of the NILs, namely Pusa Basmati 1121-GN4.1, Samba Mahsuri-GN4.1 and Swarna-GN4.1, showed a significant yield superiority to their recipient parents. Analysis of differential gene expression revealed that high grain number in these QTL-NILs was unlikely due to the overexpression of Nal1 gene (LOC_Os04g52479). Instead, another tightly linked gene (LOC_Os04g52590) coding for a protein kinase domain-containing protein was consistently overexpressed in the high grain number NILs.ConclusionWe have successfully introgressed the qGN4.1 QTL for high grain number per panicle into 12 different mega varieties of rice using marker-assisted backcross breeding. The advanced near-isogenic lines are promising for the development of even higher yielding versions of these high-yielding mega varieties of rice.

Earliness traits in rapeseed (Brassica napus): SNP loci and candidate genes identified by genome-wide association analysis.

Life cycle timing is critical for yield and productivity of Brassica napus (rapeseed) cultivars grown in different environments. To facilitate breeding for earliness traits in rapeseed, SNP loci and underlying candidate genes associated with the timing of initial flowering, maturity and final flowering, as well as flowering period (FP) were investigated in two environments in a diversity panel comprising 300 B. napus inbred lines. Genome-wide association studies (GWAS) using 201,817 SNP markers previously developed from SLAF-seq (specific locus amplified fragment sequencing) revealed a total of 131 SNPs strongly linked (P < 4.96E-07) to the investigated traits. Of these 131 SNPs, 40 fell into confidence intervals or were physically adjacent to previously published flowering time QTL or SNPs. Phenotypic effect analysis detected 35 elite allelic variants for early maturing, and 90 for long FP. Candidate genes present in the same linkage disequilibrium blocks (r2>0.6) or in 100 kb regions around significant trait-associated SNPs were screened, revealing 57 B. napus genes (33 SNPs) orthologous to 39 Arabidopsis thaliana flowering time genes. These results support the practical and scientific value of novel large-scale SNP data generation in uncovering the genetic control of agronomic traits in B. napus, and also provide a theoretical basis for molecular marker-assisted selection of earliness breeding in rapeseed.

Resistance to tomato leaf curl New Delhi virus in melon is controlled by a major QTL located in chromosome 11.

Identification of three genomic regions and underlying candidate genes controlling the high level of resistance to ToLCNDV derived from a wild melon. SNP markers appropriated for MAS management of resistance. Tomato leaf curl New Delhi virus (ToLCNDV) is a bipartite begomovirus that severely affects melon crop (Cucumis melo) in the main production areas of Spain since 2012. In this work, we evaluated the degree of resistance of four accessions (two belonging to the subsp. agrestis var. momordica and two to the wild agrestis group) and their corresponding hybrids with a susceptible commercial melon belonging to the subsp. melo (Piel de Sapo, PS). The analysis using quantitative PCR (qPCR) allowed us to select one wild agrestis genotype (WM-7) with a high level of resistance and use it to construct segregating populations (F 2 and backcrosses). These populations were phenotyped for symptom severity and virus content using qPCR, and genotyped with different sets of SNP markers. Phenotyping and genotyping results in the F 2 and BC1s populations derived from the WM-7×PS cross were used for QTL analysis. Three genomic regions controlling resistance to ToLCNDV were found, one major locus in chromosome 11 and two additional regions in chromosomes 12 and 2. The highest level of resistance (no or mild symptoms and very low viral titer) was obtained with the homozygous WM-7WM-7 genotype at the major QTL in chromosome 11, even with PSPS genotypes at the other two loci. The resistance derived from WM-7 is useful to develop new melon cultivars and the linked SNPs selected in this paper will be highly useful in marker-assisted breeding for ToLCNDV resistance in melon.

An SNP-based saturated genetic map and QTL analysis of fruit-related traits in Zucchini using Genotyping-by-sequencing

BackgroundCucurbita pepo is a cucurbit with growing economic importance worldwide. Zucchini morphotype is the most important within this highly variable species. Recently, transcriptome and Simple Sequence Repeat (SSR)- and Single Nucleotide Polymorphism (SNP)-based medium density maps have been reported, however further genomic tools are needed for efficient molecular breeding in the species. Our objective is to combine currently available complete transcriptomes and the Zucchini genome sequence with high throughput genotyping methods, mapping population development and extensive phenotyping to facilitate the advance of genomic research in this species.ResultsWe report the Genotyping-by-sequencing analysis of a RIL population developed from the inter subspecific cross Zucchini x Scallop (ssp. pepo x ssp. ovifera). Several thousands of SNP markers were identified and genotyped, followed by the construction of a high-density linkage map based on 7,718 SNPs (average of 386 markers/linkage group) covering 2,817.6 cM of the whole genome, which is a great improvement with respect to previous maps. A QTL analysis was performed using phenotypic data obtained from the RIL population from three environments. In total, 48 consistent QTLs for vine, flowering and fruit quality traits were detected on the basis of a multiple-environment analysis, distributed in 33 independent positions in 15 LGs, and each QTL explained 1.5–62.9% of the phenotypic variance. Eight major QTLs, which could explain greater than 20% of the phenotypic variation were detected and the underlying candidate genes identified.ConclusionsHere we report the first SNP saturated map in the species, anchored to the physical map. Additionally, several consistent QTLs related to early flowering, fruit shape and length, and rind and flesh color are reported as well as candidate genes for them. This information will enhance molecular breeding in C. pepo and will assist the gene cloning underlying the studied QTLs, helping to reveal the genetic basis of the studied processes in squash.

Systems Genetics of Liver Fibrosis.

This systems genetics analysis comprises quantitative measurements of hepatic fibrogenesis in mouse models and mapping of quantitative traits in mouse genetic reference populations. It is part of a large mapping project of fibrogenic genes including the analyses of experimental crosses from different inbred mouse strains. Extensive quantitative trait loci (QTL) mapping of fibrosis phenotypes and liver expression profiling in combination with in silico mapping facilitated the identification of QTL regions and underlying candidate genes that confer fibrosis susceptibility also in humans. Moreover, the approach led to the identification of interacting QTLs and gene networks in liver fibrosis, providing a key experimental platform for the development of novel, more precise therapeutic interventions. Here, we provide a use case for the application of different analysis tools and the integration of multiple datasets determined in F2 intercrosses and BXD recombinant inbred lines to identify, finemap and affirm fibrosis susceptibility loci.

Mining for Candidate Genes in an Introgression Line by Using RNA Sequencing: The Anthocyanin Overaccumulation Phenotype in Brassica.

Introgression breeding is a widely used method for the genetic improvement of crop plants; however, the mechanism underlying candidate gene flow patterns during hybridization is poorly understood. In this study, we used a powerful pipeline to investigate a Chinese cabbage (Brassica rapa L. ssp. pekinensis) introgression line with the anthocyanin overaccumulation phenotype. Our purpose was to analyze the gene flow patterns during hybridization and elucidate the genetic factors responsible for the accumulation of this important pigment compound. We performed RNA-seq analysis by using two pipelines, one with and one without a reference sequence, to obtain transcriptome data. We identified 930 significantly differentially expressed genes (DEGs) between the purple-leaf introgression line and B. rapa green cultivar, namely, 389 up-regulated and 541 down-regulated DEGs that mapped to the B. rapa reference genome. Since only one anthocyanin pathway regulatory gene was identified, i.e., Bra037887 (bHLH), we mined unmapped reads, revealing 2031 de novo assembled unigenes, including c3563g1i2. Phylogenetic analysis suggested that c3563g1i2, which was transferred from the Brassica B genome of the donor parental line Brassica juncea, may represent an R2R3-MYB transcription factor that participates in the ternary transcriptional activation complex responsible for the anthocyanin overaccumulation phenotype of the B. rapa introgression line. We also identified genes involved in cold and light reaction pathways that were highly upregulated in the introgression line, as confirmed using quantitative real-time PCR analysis. The results of this study shed light on the mechanisms underlying the purple leaf trait in Brassica plants and may facilitate the use of introgressive hybridization for many traits of interest.

Corrigendum.

Physiologia PlantarumVolume 157, Issue 4 p. 519-519 CorrigendumFree Access Corrigendum This article corrects the following: Phenotypic plasticity toward water regime: response of leaf growth and underlying candidate genes in Populus François Bizet, Marie-Béatrice Bogeat-Triboulot, Pierre Montpied, Angélique Christophe, Nathalie Ningre, David Cohen, Irène Hummel, Volume 154Issue 1Physiologia Plantarum pages: 39-53 First Published online: October 25, 2014 First published: 15 July 2016 https://doi.org/10.1111/ppl.12461AboutSectionsPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Physiol Plant 154: 39–53 (2015) Phenotypic plasticity toward water regime: response of leaf growth and underlying candidate genes in Populus. François Bizet, Marie-Béatrice Bogeat-Triboulot, Pierre Montpied, Angélique Christophe, Nathalie Ningre, David Cohen and Irène Hummel. The equation “RQ = Ta/ECt” in the Material and Method section, subsection RealTime PCT is incorrect. The correct equation is “RQ =1/(Ta·ECt)” Reference Bizet F, Bogeat-Triboulot MB, Montpied P, Christophe A, Ningre N, Cohen D, Hummel I (2015) Phenotypic plasticity toward water regime: response of leaf growth and underlying candidate genes in Populus. Physiol. Plant. 154: 39– 53 Volume157, Issue4August 2016Pages 519-519 ReferencesRelatedInformation

Natural genetic variation in Arabidopsis for responsiveness to plant growth-promoting rhizobacteria.

The plant growth-promoting rhizobacterium (PGPR) Pseudomonas simiae WCS417r stimulates lateral root formation and increases shoot growth in Arabidopsis thaliana (Arabidopsis). These plant growth-stimulating effects are partly caused by volatile organic compounds (VOCs) produced by the bacterium. Here, we performed a genome-wide association (GWA) study on natural genetic variation in Arabidopsis for the ability to profit from rhizobacteria-mediated plant growth-promotion. To this end, 302 Arabidopsis accessions were tested for root architecture characteristics and shoot fresh weight in response to exposure to WCS417r. Although virtually all Arabidopsis accessions tested responded positively to WCS417r, there was a large variation between accessions in the increase in shoot fresh weight, the extra number of lateral roots formed, and the effect on primary root length. Correlation analyses revealed that the bacterially-mediated increase in shoot fresh weight is related to alterations in root architecture. GWA mapping for WCS417r-stimulated changes in root and shoot growth characteristics revealed 10 genetic loci highly associated with the responsiveness of Arabidopsis to the plant growth-promoting activity of WCS417r. Several of the underlying candidate genes have been implicated in important plant growth-related processes. These results demonstrate that plants possess natural genetic variation for the capacity to profit from the plant growth-promoting function of a beneficial rhizobacterium in their rhizosphere. This knowledge is a promising starting point for sustainable breeding strategies for future crops that are better able to maximize profitable functions from their root microbiome.Electronic supplementary materialThe online version of this article (doi:10.1007/s11103-016-0442-2) contains supplementary material, which is available to authorized users.

Composite Selection Signals for Complex Traits Exemplified Through Bovine Stature Using Multibreed Cohorts of European and African Bos taurus.

Understanding the evolution and molecular architecture of complex traits is important in domestic animals. Due to phenotypic selection, genomic regions develop unique patterns of genetic diversity called signatures of selection, which are challenging to detect, especially for complex polygenic traits. In this study, we applied the composite selection signals (CSS) method to investigate evidence of positive selection in a complex polygenic trait by examining stature in phenotypically diverse cattle comprising 47 European and 8 African Bos taurus breeds, utilizing a panel of 38,033 SNPs genotyped on 1106 animals. CSS were computed for phenotypic contrasts between multibreed cohorts of cattle by classifying the breeds according to their documented wither height to detect the candidate regions under selection. Using the CSS method, clusters of signatures of selection were detected at 26 regions (9 in European and 17 in African cohorts) on 13 bovine autosomes. Using comparative mapping information on human height, 30 candidate genes mapped at 12 selection regions (on 8 autosomes) could be linked to bovine stature diversity. Of these 12 candidate gene regions, three contained known genes (i.e., NCAPG-LCORL, FBP2-PTCH1, and PLAG1-CHCHD7) related to bovine stature, and nine were not previously described in cattle (five in European and four in African cohorts). Overall, this study demonstrates the utility of CSS coupled with strategies of combining multibreed datasets in the identification and discovery of genomic regions underlying complex traits. Characterization of multiple signatures of selection and their underlying candidate genes will elucidate the polygenic nature of stature across cattle breeds.

More than one way to evolve a weed: parallel evolution of US weedy rice through independent genetic mechanisms.

Many different crop species were selected for a common suite of 'domestication traits', which facilitates their use for studies of parallel evolution. Within domesticated rice (Oryza sativa), there has also been independent evolution of weedy strains from different cultivated varieties. This makes it possible to examine the genetic basis of parallel weed evolution and the extent to which this process occurs through shared genetic mechanisms. We performed comparative QTL mapping of weediness traits using two recombinant inbred line populations derived from crosses between an indica crop variety and representatives of each of the two independently evolved weed strains found in US rice fields, strawhull (S) and blackhull awned (B). Genotyping-by-sequencing provided dense marker coverage for linkage map construction (average marker interval <0.25 cM), with 6016 and 13730 SNPs mapped in F5 lines of the S and B populations, respectively. For some weediness traits (awn length, hull pigmentation and pericarp pigmentation), QTL mapping and sequencing of underlying candidate genes confirmed that trait variation was largely attributable to individual loci. However, for more complex quantitative traits (including heading date, panicle length and seed shattering), we found multiple QTL, with little evidence of shared genetic bases between the S and B populations or across previous studies of weedy rice. Candidate gene sequencing revealed causal genetic bases for 8 of 27 total mapped QTL. Together these findings suggest that despite the genetic bottleneck that occurred during rice domestication, there is ample genetic variation in this crop to allow agricultural weed evolution through multiple genetic mechanisms.

Genetic fine‐mapping and gene identification of adiposity traits in outbred rats

Obesity and overweight are major risk factors for multiple diseases including cardiovascular disease and type 2 diabetes. Genetic factors are known to contribute significantly to obesity and related traits with heritability ranging from 50‐80%. Human genome‐wide association studies have identified over 50 genes for traits related to adiposity. These genes, however, explain less than 10% of the heritable variance. Heterogeneous stock (HS) rats are outbred from eight inbred strains and allow genetic fine‐mapping to only a few Megabases. The goal of the current study was to use HS rats to fine‐map adiposity traits genome‐wide and identify underlying candidate genes. We measured body weight, body mass index and visceral adiposity in 1090 male HS rats and genotyped all rats using the Affymetrix 10K SNP array. Linkage disequilibrium mapping by mixed model regression was used to identify significant loci. We identified one or more significant loci for all traits, with an average confidence interval of only 2.2 Mb. Using expression data and founder sequence, we identified potential candidate genes within several loci, including those that have previously been identified in human genome‐wide association studies. Protein modeling was used to support a causal role for some of the genes. These results demonstrate the power of HS rats for fine‐mapping metabolic traits and rapidly identifying candidate genes.Supported by NIH R01 DK‐088975 and the Individualized Medicine Institute at MCW.

Phenotypic plasticity toward water regime: response of leaf growth and underlying candidate genes in Populus.

Phenotypic plasticity is considered as an important mechanism for plants to cope with environmental challenges. Leaf growth is one of the first macroscopic processes to be impacted by modification of soil water availability. In this study, we intended to analyze and compare plasticity at different scales. We examined the differential effect of water regime (optimal, moderate water deprivation and recovery) on growth and on the expression of candidate genes in leaves of different growth stages. Candidates were selected to assess components of growth response: abscisic acid signaling, water transport, cell wall modification and stomatal development signaling network. At the tree scale, the four studied poplar hybrids responded similarly to water regime. Meanwhile, leaf growth response was under genotype × environment interaction. Patterns of candidate gene expression enriched our knowledge about their functionality in poplars. For most candidates, transcript levels were strongly structured according to leaf growth performance while response to water regime was clearly dependent on genotype. The use of an index of plasticity revealed that the magnitude of the response was higher for gene expression than for macroscopic traits. In addition, the ranking of poplar genotypes for macroscopic traits well paralleled the one for gene expression.

A low-density SNP array for analyzing differential selection in freshwater and marine populations of threespine stickleback (Gasterosteus aculeatus).

BackgroundThe threespine stickleback (Gasterosteus aculeatus) has become an important model species for studying both contemporary and parallel evolution. In particular, differential adaptation to freshwater and marine environments has led to high differentiation between freshwater and marine stickleback populations at the phenotypic trait of lateral plate morphology and the underlying candidate gene Ectodysplacin (EDA). Many studies have focused on this trait and candidate gene, although other genes involved in marine-freshwater adaptation may be equally important. In order to develop a resource for rapid and cost efficient analysis of genetic divergence between freshwater and marine sticklebacks, we generated a low-density SNP (Single Nucleotide Polymorphism) array encompassing markers of chromosome regions under putative directional selection, along with neutral markers for background.ResultsRAD (Restriction site Associated DNA) sequencing of sixty individuals representing two freshwater and one marine population led to the identification of 33,993 SNP markers. Ninety-six of these were chosen for the low-density SNP array, among which 70 represented SNPs under putatively directional selection in freshwater vs. marine environments, whereas 26 SNPs were assumed to be neutral. Annotation of these regions revealed several genes that are candidates for affecting stickleback phenotypic variation, some of which have been observed in previous studies whereas others are new.ConclusionsWe have developed a cost-efficient low-density SNP array that allows for rapid screening of polymorphisms in threespine stickleback. The array provides a valuable tool for analyzing adaptive divergence between freshwater and marine stickleback populations beyond the well-established candidate gene Ectodysplacin (EDA).Electronic supplementary materialThe online version of this article (doi:10.1186/1471-2164-15-867) contains supplementary material, which is available to authorized users.

Genomic regions and underlying candidate genes associated with coleoptile length under deep sowing conditions in a wheat RIL population

Longer coleoptile is a desirable trait in wheat for sowing under drought stress environments with moisture availability in the deeper layers of the soil. In the present study, WL711/C306 wheat RIL population and the parents were phenotyped for coleoptile length under deep sowing conditions in the field and plant growth chamber. C306, a tall traditional cultivar had longer coleoptile compared to the semi dwarf parent WL711 carrying Rht-B1b gene. The RIL population showed considerable variation, normal distribution and transgressive segregation for coleoptile length under field and controlled environment conditions. The genetic linkage map of WL711/C306 RIL population was constructed comprising of 346 markers. The total map distance was 4,526.8 cM with an averaged interval of 12.9 cM between the adjacent markers. Major novel consistent QTLs for coleoptile length were identified on 4BS, co-located with the Rht-B1b gene and on 3BS. Also major QTL was identified on chromosome 3BL for coleoptile length explaining up to 12.4 % of phenotypic variation. On comparison with the rice (Oryza sativa L.) genomic DNA sequences syntenic to wheat chromosome 4BS and 3BS, two candidate genes were identified namely gibberellin C-20 oxidase 1 and α-Expansin. These genes play a role in cell wall expansion in the young expanding tissue in the coleoptile. QTLs qCL.4B.1 and qCL.3B.1 emerge to be important for coleoptile length in the WL711/C306 RIL population suggesting their potential value for use in marker assisted selection after validation for longer coleoptile length and improved establishment.

Heritability and identification of QTLs and underlying candidate genes associated with the architecture of the grapevine cluster (Vitis vinifera L.)

We have identified 19 QTLs for rachis architecture, a key and complex trait for grapevine production. Fifty out of 1,173 genes underlying these QTLs are candidates to be further explored. In the table grape industry, the rachis architecture has economic and management implications. Therefore, understanding the genetics of this trait is key for its breeding. The aim of this work was to identify genetic determinants of traits associated with the cluster architecture. Characterisations of eight traits was performed on a 'Ruby Seedless' × 'Sultanina' crossing (F1: n = 137) during three seasons, with and without gibberellic acid (GA3) applications. The genotypic effects and the genotype × GA3 interactions were significant for several traits. Rachis length (rl), lateral shoulder length and node number along the central axis were the most prominent traits. On average, the heritability of these traits was ~71 %, with heritability of rl being 76 % as estimated under different seasons. Quantitative trait loci (QTLs) analyses showed that linkage group 5 (LG5) and LG18 harboured the largest number of QTLs for these traits. According to the variance explained, the main QTL (corresponding to rl) was found on LG9. These QTLs were supported mainly by a paternal additive effect and revealed possible pleiotropic effects. Based on the grapevine reference genome, we identified 1,173 genes located under these QTL confidence intervals. Fifty of the 891 annotated genes of this list were selected for their further characterisation because of their possible participation in the rachis architecture. In conclusion, the QTLs detected indicate that these traits and their GA3 responsiveness have a clear genetic basis. Due to the percentage of the total variance explained, they are good candidates to participate in the genetic determination of the cluster architecture.

Genomic Correlates of Relationship QTL Involved in Fore- versus Hind Limb Divergence in Mice

Divergence of serially homologous elements of organisms is a common evolutionary pattern contributing to increased phenotypic complexity. Here, we study the genomic intervals affecting the variational independence of fore- and hind limb traits within an experimental mouse population. We use an advanced intercross of inbred mouse strains to map the loci associated with the degree of autonomy between fore- and hind limb long bone lengths (loci affecting the relationship between traits, relationship quantitative trait loci [rQTL]). These loci have been proposed to interact locally with the products of pleiotropic genes, thereby freeing the local trait from the variational constraint due to pleiotropic mutations. Using the known polymorphisms (single nucleotide polymorphisms [SNPs]) between the parental strains, we characterized and compared the genomic regions in which the rQTL, as well as their interaction partners (intQTL), reside. We find that these two classes of QTL intervals harbor different kinds of molecular variation. SNPs in rQTL intervals more frequently reside in limb-specific cis-regulatory regions than SNPs in intQTL intervals. The intQTL loci modified by the rQTL, in contrast, show the signature of protein-coding variation. This result is consistent with the widely accepted view that protein-coding mutations have broader pleiotropic effects than cis-regulatory polymorphisms. For both types of QTL intervals, the underlying candidate genes are enriched for genes involved in protein binding. This finding suggests that rQTL effects are caused by local interactions among the products of the causal genes harbored in rQTL and intQTL intervals. This is the first study to systematically document the population-level molecular variation underlying the evolution of character individuation.

Colocalizations Between Several QTLs for Cell Wall Degradability and Composition in the F288 × F271 Early Maize RIL Progeny Raise the Question of the Nature of the Possible Underlying Determinants and Breeding Targets for Biofuel Capacity

Understanding the genetic basis of the different traits which contribute to a given value of cell wall degradability is a key issue towards the breeding of grasses with higher feeding value or higher capability for bioenergy production. A quantitative trait loci (QTL) investigation for cell wall degradability and several cell wall component traits including lignin content, p-hydroxycinnamic acid content, and lignin monomeric structure was thus done with a simultaneous search for underlying candidate genes in the F288 × F271 recombinant inbred line progeny. Genotype effects were highly significant for all cell wall investigated traits (P < 0.001) and much higher than genotype × environment interaction effects. Out of 42 QTLs mapped, 11 and 23 QTLs explained more than 20 and 15 % of the observed trait phenotypic variation, respectively. Twenty-three QTLs were gathered into four large clusters shown in bins 3.06, 4.09, 6.05, and 6.07. Colocalizations of cell wall degradability QTLs occurred with lignin content QTLs and lignin structure QTLs. Moreover, for two positions, there were also colocalizations with etherified ferulic acid QTLs. Such simultaneous colocalizations between QTLs for cell wall degradability and both lignin- and ferulate-related traits led to questioning the possible underlying genetic determinant(s). A cluster of (linked) genes involved in the different mechanisms of cell wall biosynthesis and/or assembly is likely the simplest situation to consider. However, a single “master” regulation factor located upstream in the pathway of cell wall biosynthesis and assembly cannot be definitely ruled out. Candidate genes putatively involved in cell wall degradability variations highlighted especially the presence of ZmMYB Hv5/EgMYB1-like and COV-like genes in any of the clusters. Moreover, besides potential regulatory candidates, there are a number of candidates of still unknown functions. The question of the nature of the possible QTL underlying determinants is still partly unanswered, even if the results obtained strongly suggested that, in this progeny, genes involved in monolignol biosynthesis and important Arabidopsis NAC are not likely candidates. In addition, the positions of candidate genes suggested that ghost QTL positions should also be considered.

Genetic architecture of flowering time differentiation between locally adapted populations of Arabidopsis thaliana

To gain an understanding of the genetic basis of adaptation, we conducted quantitative trait locus (QTL) mapping for flowering time variation between two winter annual populations of Arabidopsis thaliana that are locally adapted and display distinct flowering times. QTL mapping was performed with large (n = 384) F(2) populations with and without vernalization, in order to reveal both the genetic basis of a vernalization requirement and that of variation in flowering time given vernalization. In the nonvernalization treatment, none of the Sweden parents flowered, whereas all of the Italy parents and 42% of the F(2)s flowered. We identified three QTLs for flowering without vernalization, with much of the variation being attributed to a QTL co-localizing with FLOWERING LOCUS C (FLC). In the vernalization treatment, all parents and F(2)s flowered, and six QTLs of small to moderate effect were revealed, with underlying candidate genes that are members of the vernalization pathway. We found no evidence for a role of FRIGIDA in the regulation of flowering times. These results contribute to a growing body of evidence aimed at the identification of ecologically relevant genetic variation for flowering time in Arabidopsis, and set the stage for functional studies to determine the link between flowering time loci and fitness.