Independent Quantitative Trait Loci Research Articles

Integrated meta-analysis and transcriptomics pinpoint genomic loci and novel candidate genes associated with submergence tolerance in rice

BackgroundDue to rising costs, water shortages, and labour shortages, farmers across the globe now prefer a direct seeding approach. However, submergence stress remains a major bottleneck limiting the success of this approach in rice cultivation. The merger of accumulated rice genetic resources provides an opportunity to detect key genomic loci and candidate genes that influence the flooding tolerance of rice.ResultsIn the present study, a whole-genome meta-analysis was conducted on 120 quantitative trait loci (QTL) obtained from 16 independent QTL studies reported from 2004 to 2023. These QTL were confined to 18 meta-QTL (MQTL), and ten MQTL were successfully validated by independent genome-wide association studies from diverse natural populations. The mean confidence interval (CI) of the identified MQTL was 3.44 times narrower than the mean CI of the initial QTL. Moreover, four core MQTL loci with genetic distance less than 2 cM were obtained. By combining differentially expressed genes (DEG) from two transcriptome datasets with 858 candidate genes identified in the core MQTL regions, we found 38 common differentially expressed candidate genes (DECGs). In silico expression analysis of these DECGs led to the identification of 21 genes with high expression in embryo and coleoptile under submerged conditions. These DECGs encode proteins with known functions involved in submergence tolerance including WRKY, F-box, zinc fingers, glycosyltransferase, protein kinase, cytochrome P450, PP2C, hypoxia-responsive family, and DUF domain. By haplotype analysis, the 21 DECGs demonstrated distinct genetic differentiation and substantial genetic distance mainly between indica and japonica subspecies. Further, the MQTL7.1 was successfully validated using flanked marker S2329 on a set of genotypes with phenotypic variation.ConclusionThis study provides a new perspective on understanding the genetic basis of submergence tolerance in rice. The identified MQTL and novel candidate genes lay the foundation for marker-assisted breeding/engineering of flooding-tolerant cultivars conducive to direct seeding.

Large scale sequence-based screen for recessive variants allows for identification and monitoring of rare deleterious variants in pigs.

Most deleterious variants are recessive and segregate at relatively low frequency. Therefore, high sample sizes are required to identify these variants. In this study we report a large-scale sequence based genome-wide association study (GWAS) in pigs, with a total of 120,000 Large White and 80,000 Synthetic breed animals imputed to sequence using a reference population of approximately 1,100 whole genome sequenced pigs. We imputed over 20 million variants with high accuracies (R2>0.9) even for low frequency variants (1-5% minor allele frequency). This sequence-based analysis revealed a total of 14 additive and 9 non-additive significant quantitative trait loci (QTLs) for growth rate and backfat thickness. With the non-additive (recessive) model, we identified a deleterious missense SNP in the CDHR2 gene reducing growth rate and backfat in homozygous Large White animals. For the Synthetic breed, we revealed a QTL on chromosome 15 with a frameshift variant in the OBSL1 gene. This QTL has a major impact on both growth rate and backfat, resembling human 3M-syndrome 2 which is related to the same gene. With the additive model, we confirmed known QTLs on chromosomes 1 and 5 for both breeds, including variants in the MC4R and CCND2 genes. On chromosome 1, we disentangled a complex QTL region with multiple variants affecting both traits, harboring 4 independent QTLs in the span of 5 Mb. Together we present a large scale sequence-based association study that provides a key resource to scan for novel variants at high resolution for breeding and to further reduce the frequency of deleterious alleles at an early stage in the breeding program.

Levels of complement factor H-related 4 protein do not influence susceptibility to age-related macular degeneration or its course of progression

Dysregulation of the alternative pathway (AP) of the complement system is a significant contributor to age-related macular degeneration (AMD), a primary cause of irreversible vision loss worldwide. Here, we assess the contribution of the liver-produced complement factor H-related 4 protein (FHR-4) to AMD initiation and course of progression. We show that FHR-4 variation in plasma and at the primary location of AMD-associated pathology, the retinal pigment epithelium/Bruch’s membrane/choroid interface, is entirely explained by three independent quantitative trait loci (QTL). Using two distinct cohorts composed of a combined 14,965 controls and 20,741 cases, we ascertain that independent QTLs for FHR-4 are distinct from variants causally associated with AMD, and that FHR-4 variation is not independently associated with disease. Additionally, FHR-4 does not appear to influence AMD progression course among patients with disease driven predominantly by AP dysregulation. Modulation of FHR-4 is therefore unlikely to be an effective therapeutic strategy for AMD.

Genome-wide association study identifies functional genomic variants associated with young stock survival in Nordic Red Dairy Cattle

Identifying quantitative trait loci (QTL) associated with calf survival is essential for both reducing economic loss in cattle industry and understanding the genetic basis of the trait. To identify mutations and genes underlying young stock survival (YSS), we performed GWAS using de-regressed estimated breeding values of a YSS index and its component traits defined by sex and age in 3,077 Nordic Red Dairy Cattle (RDC) bulls and 2 stillbirth traits (first lactation and later lactations) in 5,141 RDC bulls. Two associated QTL regions on Bos taurus autosome (BTA) 4 and 6 were identified for the YSS index. The results of 4 YSS component traits indicate that same QTL regions were associated with bull and heifer calf mortality, but the effects were different over the growing period and suggested an additional QTL on BTA23. The GWAS on stillbirth identified 3 additional QTL regions on BTA5, 14, and 24 compared with YSS and its component traits. The conditional test of BTA6 showed at least 2 closely located QTL segregating for YSS component traits and stillbirth. We found 2 independent QTL for stillbirth on BTA23. The post-GWAS revealed LCORL, PPM1K, SSP1, MED28, and LAP3 are putative causal genes on BTA6, and a frame shift variant within LCORL, BTA6:37401770 (rs384548488) could be the putative causal variant. On BTA4, the GRB10 gene is the putative causal gene and BTA4:5296018 is the putative causal variant. In addition, NDUFA9 and FGF23 on BTA5, LYN on BTA14, and KCNK5 on BTA23 are putative causal genes for QTL for stillbirth. The gene analysis also proposed several candidate genes. Our findings shed new light on the candidate genes affecting calf survival, and the knowledge could be utilized to reduce calf mortality and thereby enhance welfare of dairy cattle.

Divergent combinations of cis-regulatory elements control the evolution of phenotypic plasticity.

The widespread occurrence of phenotypic plasticity across all domains of life demonstrates its evolutionary significance. However, how plasticity itself evolves and how it contributes to evolution is poorly understood. Here, we investigate the predatory nematode Pristionchus pacificus with its feeding structure plasticity using recombinant-inbred-line and quantitative-trait-locus (QTL) analyses between natural isolates. We show that a single QTL at a core developmental gene controls the expression of the cannibalistic morph. This QTL is composed of several cis-regulatory elements. Through CRISPR/Cas-9 engineering, we identify copy number variation of potential transcription factor binding sites that interacts with a single intronic nucleotide polymorphism. Another intronic element eliminates gene expression altogether, mimicking knockouts of the locus. Comparisons of additional isolates further support the rapid evolution of these cis-regulatory elements. Finally, an independent QTL study reveals evidence for parallel evolution at the same locus. Thus, combinations of cis-regulatory elements shape plastic trait expression and control nematode cannibalism.

Intraspecific diversity in the mechanisms underlying abamectin resistance in a cosmopolitan pest.

Pesticide resistance relies on a myriad of mechanisms, ranging from single mutations to a complex and polygenic architecture, and it involves mechanisms such as target-site insensitivity, metabolic detoxification, or a combination of these, with either additive or synergistic effects. Several resistance mechanisms against abamectin, a macrocyclic lactone widely used in crop protection, have been reported in the cosmopolitan pest Tetranychus urticae. However, it has been shown that a single mechanism cannot account for the high levels of abamectin resistance found across different mite populations. Here, we used experimental evolution combined with bulked segregant analyses to map quantitative trait loci (QTL) associated with abamectin resistance in two genetically unrelated populations of T. urticae. In these two independent QTL mapping experiments, three and four QTLs were identified, of which three were shared between experiments. Shared QTLs contained genes encoding subunits of the glutamate-gated chloride channel (GluCl) and harboured previously reported mutations, including G314D in GluCl1 and G326E in GluCl3, but also novel resistance candidate loci, including DNA helicases and chemosensory receptors. Surprisingly, the fourth QTL, present only in only one of the experiments and thus unique for one resistant parental line, revealed a non-functional variant of GluCl2, suggesting gene knock-out as resistance mechanism. Our study uncovers the complex basis of abamectin resistance, and it highlights the intraspecific diversity of genetic mechanisms underlying resistance in a cosmopolitan pest.

Deciphering key genomic regions controlling flag leaf size in wheat via integration of meta-QTL and in silico transcriptome assessment

BackgroundGrain yield is a complex and polygenic trait influenced by the photosynthetic source-sink relationship in wheat. The top three leaves, especially the flag leaf, are considered the major sources of photo-assimilates accumulated in the grain. Determination of significant genomic regions and candidate genes affecting flag leaf size can be used in breeding for grain yield improvement.ResultsWith the final purpose of understanding key genomic regions for flag leaf size, a meta-analysis of 521 initial quantitative trait loci (QTLs) from 31 independent QTL mapping studies over the past decades was performed, where 333 loci eventually were refined into 64 meta-QTLs (MQTLs). The average confidence interval (CI) of these MQTLs was 5.28 times less than that of the initial QTLs. Thirty-three MQTLs overlapped the marker trait associations (MTAs) previously reported in genome-wide association studies (GWAS) for flag leaf traits in wheat. A total of 2262 candidate genes for flag leaf size, which were involved in the peroxisome, basal transcription factor, and tyrosine metabolism pathways were identified in MQTL regions by the in silico transcriptome assessment. Of these, the expression analysis of the available genes revealed that 134 genes with > 2 transcripts per million (TPM) were highly and specifically expressed in the leaf. These candidate genes could be critical to affect flag leaf size in wheat.ConclusionsThe findings will make further insight into the genetic determinants of flag leaf size and provide some reliable MQTLs and putative candidate genes for the genetic improvement of flag leaf size in wheat.

Genetic variation in fire recovery and other fire-related traits in a global eucalypt species

To understand the potential of forests to adapt to wildfire, we studied the genetic architecture of fire-related structural, damage and recovery traits in a globally important Australian forest tree species, Eucalyptus globulus. Fourteen traits were evaluated in an outcrossed F2 population in a field trial in Tasmania, Australia, which was burnt by a wildfire 14 years after planting. The trial also included open-pollinated families of the grandparental dwarf and tall ecotypes used to produce the F2 population. We studied the phenotypic correlations within the F2 population and performed quantitative trait loci (QTL) analyses using a linkage map comprised of 472 markers. Ecotype comparisons revealed that almost all traits were under genetic control, with trees of the dwarf ecotype significantly more damaged and mainly recovering from lignotubers, whereas tall ecotype trees mainly recovered from epicormic resprouts extending for a variable height up the stem. Within the F2, tree size was negatively correlated with fire damage and positively correlated with recovery. Genetic control of fire-related traits was confirmed by the detection of 38 QTL in the F2 population. These QTL accounted for 4 to 43% of the phenotypic variation in these traits. Several QTL co-located and likely reflect pleiotropic effects. However, many independent QTL were detected, including QTL for crown consumption and trunk scorch, epicormic resprouting, resprout herbivory, and seedling establishment. The QTL detected argue that many genetically controlled mechanisms are responsible for variation in fire damage and recovery.

Mining the Vavilov wheat diversity panel for new sources of adult plant resistance to stripe rust

Key messageMulti-year evaluation of the Vavilov wheat diversity panel identified new sources of adult plant resistance to stripe rust. Genome-wide association studies revealed the key genomic regions influencing resistance, including seven novel loci.Wheat stripe rust (YR) caused by Puccinia striiformis f. sp. tritici (Pst) poses a significant threat to global food security. Resistance genes commonly found in many wheat varieties have been rendered ineffective due to the rapid evolution of the pathogen. To identify novel sources of adult plant resistance (APR), 292 accessions from the N.I. Vavilov Institute of Plant Genetic Resources, Saint Petersburg, Russia, were screened for known APR genes (i.e. Yr18, Yr29, Yr46, Yr33, Yr39 and Yr59) using linked polymerase chain reaction (PCR) molecular markers. Accessions were evaluated against Pst (pathotype 134 E16 A + Yr17 + Yr27) at seedling and adult plant stages across multiple years (2014, 2015 and 2016) in Australia. Phenotypic analyses identified 132 lines that potentially carry novel sources of APR to YR. Genome-wide association studies (GWAS) identified 68 significant marker–trait associations (P < 0.001) for YR resistance, representing 47 independent quantitative trait loci (QTL) regions. Fourteen genomic regions overlapped with previously reported Yr genes, including Yr29, Yr56, Yr5, Yr43, Yr57, Yr30, Yr46, Yr47, Yr35, Yr36, Yrxy1, Yr59, Yr52 and YrYL. In total, seven QTL (positioned on chromosomes 1D, 2A, 3A, 3D, 5D, 7B and 7D) did not collocate with previously reported genes or QTL, indicating the presence of promising novel resistance factors. Overall, the Vavilov diversity panel provides a rich source of new alleles which could be used to broaden the genetic bases of YR resistance in modern wheat varieties.

Identification of Soybean Yield QTL in Irrigated and Rain-Fed Environments

Drought is the primary abiotic stress that limits yield of soybean (Glycine max (L.) Merr.). The study aimed to identify yield-related quantitative trait loci (QTLs) in soybeans using a population of 160 F4-derived lines from ‘Hutcheson’ × PI 471938 crosses, which were cultivated under rain-fed and irrigated conditions. Seed yield was determined based on a total of nine irrigated and five rain-fed environments over two years. Twenty and twenty-seven SSR markers associated with yield (p ≤ 0.05) were identified in the irrigated and rain-fed environments, respectively. Four markers accounted for 22% of the yield variation in the irrigated environments (IR-YLD) and five markers explained 34% of the yield variation in the rain-fed environments (RF-YLD). Two independent IR-YLD and RF-YLD QTLs on chromosome (Chr) 13 (LG-F) were mapped to the Satt395-Sat_074 interval (4.2 cM) and near Sat_375 (3.0 cM), which explained 8% (LOD = 2.6) and 17% (LOD = 5.5) of the yield variation, respectively. The lines homozygous for the Hutcheson allele at the IR-YLD QTL linked to Sat_074 averaged 100 kg ha−1 higher yield than the lines homozygous for the PI 471938 allele. At two independent RF-YLD QTLs on Chr 13 and Chr 17, the lines homozygous for the PI 471938 alleles were 74 to 101 kg ha−1 higher in yield than the lines homozygous for the Hutcheson alleles. Three of the five significant SSR markers associated with RF-YLD were located in a genomic region known for canopy-wilting QTLs, in which the favorable alleles were inherited from PI 471938. The identification of yield-QTLs under the respective rain-fed and irrigated environments provides knowledge regarding differential responses of yield under different irrigation conditions, which will be helpful in developing high-yielding soybean cultivars.

A conditional multi-trait sequence GWAS discovers pleiotropic candidate genes and variants for sheep wool, skin wrinkle and breech cover traits

BackgroundImputation to whole-genome sequence is now possible in large sheep populations. It is therefore of interest to use this data in genome-wide association studies (GWAS) to investigate putative causal variants and genes that underpin economically important traits. Merino wool is globally sought after for luxury fabrics, but some key wool quality attributes are unfavourably correlated with the characteristic skin wrinkle of Merinos. In turn, skin wrinkle is strongly linked to susceptibility to “fly strike” (Cutaneous myiasis), which is a major welfare issue. Here, we use whole-genome sequence data in a multi-trait GWAS to identify pleiotropic putative causal variants and genes associated with changes in key wool traits and skin wrinkle.ResultsA stepwise conditional multi-trait GWAS (CM-GWAS) identified putative causal variants and related genes from 178 independent quantitative trait loci (QTL) of 16 wool and skin wrinkle traits, measured on up to 7218 Merino sheep with 31 million imputed whole-genome sequence (WGS) genotypes. Novel candidate gene findings included the MAT1A gene that encodes an enzyme involved in the sulphur metabolism pathway critical to production of wool proteins, and the ESRP1 gene. We also discovered a significant wrinkle variant upstream of the HAS2 gene, which in dogs is associated with the exaggerated skin folds in the Shar-Pei breed.ConclusionsThe wool and skin wrinkle traits studied here appear to be highly polygenic with many putative candidate variants showing considerable pleiotropy. Our CM-GWAS identified many highly plausible candidate genes for wool traits as well as breech wrinkle and breech area wool cover.

Drone phenotyping and machine learning enable discovery of loci regulating daily floral opening in lettuce.

Flower opening and closure are traits of reproductive importance in all angiosperms because they determine the success of self- and cross-pollination. The temporal nature of this phenotype rendered it a difficult target for genetic studies. Cultivated and wild lettuce, Lactuca spp., have composite inflorescences that open only once. An L. serriola×L. sativa F6 recombinant inbred line (RIL) population differed markedly for daily floral opening time. This population was used to map the genetic determinants of this trait; the floral opening time of 236 RILs was scored using time-course image series obtained by drone-based phenotyping on two occasions. Floral pixels were identified from the images using a support vector machine with an accuracy >99%. A Bayesian inference method was developed to extract the peak floral opening time for individual genotypes from the time-stamped image data. Two independent quantitative trait loci (QTLs; Daily Floral Opening 2.1 and qDFO8.1) explaining >30% of the phenotypic variation in floral opening time were discovered. Candidate genes with non-synonymous polymorphisms in coding sequences were identified within the QTLs. This study demonstrates the power of combining remote sensing, machine learning, Bayesian statistics, and genome-wide marker data for studying the genetics of recalcitrant phenotypes.

Quantitative Trait Loci Mapping for Vigour and Survival Traits of Barley Seedlings after Germinating under Salinity Stress

Seed germination and seedling establishment are the most critical stages in the barley (Hordeum vulgare ssp. vulgare L.) life cycle that contribute substantially to grain yield. These two phases are exposed to several forms of environmental stresses such as salinity due to high level of salt accumulation in the soil rhizosphere where seed germination takes place and seedlings emerge from. Previously, we have reported genotypic variability and independent QTLs associated with salinity tolerance at seedling and germination stages. However, genotypic studies on revival of a seedling germinating under salinity stress are yet to close the lack of information between germination and seedling stages. Here, we attempt to close the genetic gap by targeting early seedling survival traits in barley after germination under salinity (NaCl) stress and the various seedling vigour indices. Seedling vigour parameters formed the basis for Quantitative trait locus (QTL) linkage mapping in 103 Doubled Haploid (DH) lines of CM72/Gairdner population, and validated the phenotypic response using a selected diverse panel of 85 barley germplasm. The results indicate that 150 mM NaCl stress significantly reduced all the recorded phenotypic traits compared to 75, 90 and 120 mM NaCl. In both DH population and diversity panel barley germplasm, the highest percentage reduction was recorded in shoot length (65.6% and 50.3%) followed by seedling vigour index length (56.5% and 41.0%), while root length (28.6% and 15.8%) and root dry weight (29.3% and 28.0%) were least reduced when control was compared to150 mM NaCl stress treatment. Six QTLs containing 13 significant markers were detected in the DH population, 3 on chromosomes 1H, 8 on 3H and 2 on 4H with LOD values ranging from 3 to 8 associated with seedling survival traits under salinity stress. Three QTLs one on 1H and two on 3H with closely linked significant markers (Bmac0032, bPb-9418 and bPb-4741), (bPb-4576 and bPb-9624) and (bPb-3623, bPb-5666 and bPb-6383) for 1H and two on 3H respectively formed the regions with high possibility of candidate genes. A QTL on 3H flanked with markers bPb-4576 and bPb-9624 that were detected in more than one salinity survival trait and were closely linked to each other will form a basis for detailed studies leading to gene functional analysis, genetic transformation and marker assisted selection (MAS).

Comparative QTL mapping for male sterility of cultivated strawberry (Fragaria × ananassa Duch.) using different reference genome sequences.

Male sterility is one of the reproductive isolation systems in plants and quite useful for F1 seed production. We previously identified three independent quantitative trait loci (QTLs) for male sterility of cultivated strawberry, Here, we identified the specific subgenomes in which these QTLs are located by QTL-seq approach. QTLs qMS4.1, qMS4.2, and qMS4.3 were mapped separately in subgenomes Fvb4-4, Fvb4-3, and Fvb4-1, respectively, in ‘Camarosa’ genome assembly v. 1.0.a1. Candidate regions of qMS4.1 and qMS4.3 were clearly detected around 12–26 Mb in Fvb4-4 and 12–14 Mb in Fvb4-1, respectively; those of qMS4.2 were fragmented in Fvb4-3, which suggests that some scaffolds were incorrectly assembled in Fvb4-3. qMS4.3 was mapped to chr4X1 of ‘Reikou’ genome assembly r2.3, and qMS4.1 and qMS4.2 were both mapped to chr4Av, which indicates that differentiation of the subgenomes in which both QTLs are located was insufficient in ‘Reikou’ r2.3. Although ‘Camarosa’ genome assembly v. 1.0.a1 is an unphased map, which merges homologous chromosomes into one sequence, ‘Reikou’ genome assembly r2.3 is a phased map, which separates homologous chromosomes. QTL mapping to different reference genomes clearly showed the specific features of each reference genome, and that using different kinds of reference map could accelerate fine mapping and map-based cloning of certain genes of cultivated strawberry.

QTL Mapping for Resistance to Early Blight in a Tetraploid Potato Population

Early blight of potato, caused by Alternaria solani, is an economically important foliar disease in most potato-growing regions. Growing cultivars with higher levels of resistance to early blight can reduce tuber yield losses and the need for fungicide applications. In this research, a bi-parental tetraploid potato population, segregating for resistance to early blight in leaves and tubers, was characterized to identify novel quantitative trait loci (QTL) associated with foliar and tuber early blight resistance. Assessment of the disease resistance in the foliage was performed by field evaluation and in tuber under controlled conditions. Results from this study revealed significant differences (P &lt; 0.001) in resistance to A. solani among potato clones both in the leaves and in tubers. There was no statistically significant correlation (r = 0.06, P = 0.35) between the resistance scores from leaves and tubers. Several clones exhibited; however, high levels of resistance both in leaves and tubers and are; thus, promising candidates for breeding for early blight resistance. Linkage mapping revealed several QTL for early blight affecting both foliage and tubers. QTL associated with disease resistance in the tuber were found on chromosomes 1, 2, 3, 4, 8, 11 and 12. QTL associated with disease resistance in foliage were also examined for independence from defoliation, and independent QTL were; thus, found on chromosomes 5 and 11.

MGWAS Uncovers Gln-Glucosinolate Seed-Specific Interaction and its Role in Metabolic Homeostasis.

Gln is a key player in plant metabolism. It is one of the major free amino acids that is transported into the developing seed and is central for nitrogen metabolism. However, Gln natural variation and its regulation and interaction with other metabolic processes in seeds remain poorly understood. To investigate the latter, we performed a metabolic genome-wide association study (mGWAS) of Gln-related traits measured from the dry seeds of the Arabidopsis (Arabidopsis thaliana) diversity panel using all potential ratios between Gln and the other members of the Glu family as traits. This semicombinatorial approach yielded multiple candidate genes that, upon further analysis, revealed an unexpected association between the aliphatic glucosinolates (GLS) and the Gln-related traits. This finding was confirmed by an independent quantitative trait loci mapping and statistical analysis of the relationships between the Gln-related traits and the presence of specific GLS in seeds. Moreover, an analysis of Arabidopsis mutants lacking GLS showed an extensive seed-specific impact on Gln levels and composition that manifested early in seed development. The elimination of GLS in seeds was associated with a large effect on seed nitrogen and sulfur homeostasis, which conceivably led to the Gln response. This finding indicates that both Gln and GLS play key roles in shaping the seed metabolic homeostasis. It also implies that select secondary metabolites might have key functions in primary seed metabolism. Finally, our study shows that an mGWAS performed on dry seeds can uncover key metabolic interactions that occur early in seed development.

Independent genetic control of drought resistance, recovery, and growth of Eucalyptus globulus seedlings.

Drought is a major stress impacting forest ecosystems worldwide. We utilized quantitative trait loci (QTL) analysis to study the genetic basis of variation in (a) drought resistance and recovery and (b) candidate traits that may be associated with this variation in the forest tree Eucalyptus globulus. QTL analysis was performed using a large outcrossed F2 mapping population from which 300 trees were phenotyped based on the mean performance of their open-pollinated F3 progeny. Progenies were grown in a glasshouse in a randomized complete block design. A subset of seedlings was subjected to a drought treatment after which they were rewatered and scored for damage and growth postdrought. Nondroughted seedlings were assessed for growth traits as well as lignotuber size and resprouting following severe damage to the main stem. QTL were detected for most traits. Importantly, independent QTL were detected for (a) drought damage and plant size, (b) drought damage and growth recovery, and (c) lignotuber size and resprouting capacity. Such independence argues that trade-offs are unlikely to be a major limitation to the response to selection and at the early life history stage studied; there are opportunities to improve resilience to drought without adverse effects on productivity.

Independent QTL underlie resistance to the native pathogen Quambalaria pitereka and the exotic pathogen Austropuccinia psidii in Corymbia

Fungal diseases such as the exotic myrtle rust (Austropuccinia psidii), and the native Quambalaria shoot blight (QSB; caused by Quambalaria species including Q. pitereka), constitute a significant threat to both native forests and Corymbia plantations in Australia and overseas. We here use quantitative trait loci (QTL) analysis to understand the genetic architecture of resistance to these pathogens in C. torelliana and C. citriodora subsp. variegata. QTL analysis was undertaken using 360 genotypes from two F1 crosses of C. torelliana × C. citriodora subsp. variegata, phenotyped by controlled inoculation with the strain of A. psidii present in Australia and independent inoculations with two strains of Q. pitereka (QSB1 & QSB2). A total of 22 QTL were identified, six for rust and 16 for QSB. The QTL for resistance to A. psidii and Q. pitereka in these pedigrees were independent from one another since they were generally in different parts of the genome, with only one case of co-location (QTL peak location within ± 2 MB). The QTL for the different QSB strains all mapped to discrete locations. The QTL for QSB were generally of a greater effect size than those for A. psidii. Several co-locations with QTL for resistance to rust and other fungal pathogens found in another eucalypt, Eucalyptus globulus, were detected and the implications of this observation are discussed.

Genotyping-by-sequencing and SNP-arrays are complementary for detecting quantitative trait loci by tagging different haplotypes in association studies

BackgroundSingle Nucleotide Polymorphism (SNP) array and re-sequencing technologies have different properties (e.g. calling rate, minor allele frequency profile) and drawbacks (e.g. ascertainment bias). This lead us to study their complementarity and the consequences of using them separately or combined in diversity analyses and Genome-Wide Association Studies (GWAS). We performed GWAS on three traits (grain yield, plant height and male flowering time) measured in 22 environments on a panel of 247 F1 hybrids obtained by crossing 247 diverse dent maize inbred lines with a same flint line. The 247 lines were genotyped using three genotyping technologies (Genotyping-By-Sequencing, Illumina Infinium 50 K and Affymetrix Axiom 600 K arrays).ResultsThe effects of ascertainment bias of the 50 K and 600 K arrays were negligible for deciphering global genetic trends of diversity and for estimating relatedness in this panel. We developed an original approach based on linkage disequilibrium (LD) extent in order to determine whether SNPs significantly associated with a trait and that are physically linked should be considered as a single Quantitative Trait Locus (QTL) or several independent QTLs. Using this approach, we showed that the combination of the three technologies, which have different SNP distributions and densities, allowed us to detect more QTLs (gain in power) and potentially refine the localization of the causal polymorphisms (gain in resolution).ConclusionsConceptually different technologies are complementary for detecting QTLs by tagging different haplotypes in association studies. Considering LD, marker density and the combination of different technologies (SNP-arrays and re-sequencing), the genotypic data available were most likely enough to well represent polymorphisms in the centromeric regions, whereas using more markers would be beneficial for telomeric regions.

A longitudinal quantitative trait locus mapping of chicken growth traits.

Since the growth traits of chickens are largely related to the production of meat and eggs, it is definitely important to understand genetic basis of growth traits. Although many quantitative trait loci (QTLs) that affect growth traits have recently been reported in chickens, little is known about genetic architecture of growth traits across all growth stages. Therefore, we conducted a longitudinal QTL study of growth traits measured from 0 to 64weeks of age using 134 microsatellite DNA markers on 26 autosomes from 406 F2 females, which resulted from an intercross of Oh-Shamo and White Leghorn chicken breeds. We found 27 and 21 independent main-effect QTLs for body weight and shank length, respectively. Moreover, 15 and 4 pairs of epistatic QTLs were found for body weight and shank length, respectively. Taken together, the present study revealed 48 QTLs for growth traits on 21 different autosomes, and these loci clearly have age-specific effects on phenotypes throughout stages that are important for meat and egg productions. Approximately 60% of Oh-Shamo-derived alleles increased the phenotypic values, corresponding to the fact that Oh-Shamo traits were higher than those of White Leghorn. On the other hand, remaining Oh-Shamo alleles decreased the phenotypic values. Our results clearly indicated that the growth traits of chickens are regulated by several main and epistatic QTLs that are widely distributed in the chicken genome, and that the QTLs have age-dependent manners of controlling the traits. This study implies importance of not only cross-sectional but also longitudinal growth data for further understanding of the complex genetic architecture in animal.