Single-locus Quantitative Trait Loci Research Articles

QTL analysis of seed size and yield-related traits in an inter-genepool population of common bean (Phaseolus vulgaris L.)

Quantitative trait locus (QTL) analysis of seed size and yield-related traits provide useful information to contribute to breeding programs. A recombinant inbred line population composed of 100 lines from a cross of Goli cultivar and breeding line AND1007 was grown in field and greenhouse conditions to identify QTLs controlling the important primary traits affecting seed size and yield-related traits. A linkage map consisting of 240 SNPs, spanning ∼520 cM of common bean genome was used for QTL mapping. A total of 39 QTLs were identified on different chromosomes, which explained 5 to 32–32 % of the phenotypic variance for the measured traits. Thirty-one of them had only individual effects, six were only involved in three epistatic interactions and two had both individual and epistatic effects. Most of the positive alleles for seed size traits and number of seeds per pod originated from the Andean parent (AND1007) while the alleles related to number of pod and seeds per plant originated from Mesoamerican parent (Goli). QTLs for seed weight, seed length and seed yield co-localized on the Pv09, suggesting these traits may be controlled by QTLs that are linked together or have pleiotropic effects. A major QTL was found for seed length (SL9.1GA) which explained ∼32 % of the phenotypic variance and had repeatability over field and greenhouse trials. Overall, results showed that QTLs with single-locus additive and epistatic effects were involved in the control of bean seed size and yield-related traits while the effects of epistatic interactions were smaller than single-locus QTLs.

Three representative inter and intra-subspecific crosses reveal the genetic architecture of reproductive isolation in rice.

Systematic characterization of genetic and molecular mechanisms in the formation of hybrid sterility is of fundamental importance in understanding reproductive isolation and speciation. Using ultra-high-density genetic maps, 43 single-locus quantitative trait loci (QTLs) and 223 digenic interactions for embryo-sac, pollen, and spikelet fertility are depicted from three crosses between representative varieties of japonica and two varietal groups of indica, which provide an extensive archive for investigating the genetic basis of reproductive isolation in rice. Ten newly detected single-locus QTLs for inter- and intra-subspecific fertility are identified. Three loci for embryo-sac fertility are detected in both Nip×ZS97 and Nip×MH63 crosses, whereas QTLs for pollen fertility are not in common between the two crosses thus leading to fertility variation. Five loci responsible for fertility and segregation distortion are observed in the ZS97×MH63 cross. The importance of two-locus interactions on fertility are quantified in the whole genome, which identify that three types of interaction contribute to fertility reduction in the hybrid. These results construct the genetic architecture with respect to various forms of reproductive barriers in rice, which have significant implications in utilization of inter-subspecific heterosis along with improvement in the fertility of indica-indica hybrids at single- and multi-locus level.

The Genetic Architecture of Fluctuating Asymmetry of Mandible Size and Shape in a Population of Mice: Another Look

Fluctuating asymmetry (FA), typically measured by variation in the differences between right and left sides of bilateral traits, is commonly used to assess developmental instability (DI) in populations. A previous quantitative trait locus (QTL) investigation using an F2 intercross mouse population found little evidence of individual loci affecting FA in mandible size, but an abundance of epistatic interactions between loci. Here we extend this work by testing whether these patterns replicate in an F3 population derived from the same intercross. Using a large number of molecular markers genotyped in over 1200 mice, we uncovered significant interactions between loci (QTLs) affecting FA in mandible size (and shape). Epistasis contributed roughly 20% of the variation in FASIZE and 19% of the variation in FASHAPE at the 0.0001 probability level alone, and was comparable to that previously estimated for the F2 mice, and much greater than that generated from the few single-locus QTLs affecting the mandible FA traits. The positions of the single-locus and epistatic QTLs for FA that we discovered suggested that logical candidate genes for DI are those controlling size or shape in the traits themselves, and that they may be interacting with genes for heat shock proteins.

Genetic variation underlying pod size and color traits of common bean depends on quantitative trait loci with epistatic effects

Common bean is an important vegetable legume in many regions of the world. Size and color of fresh pods are the key factors for deciding the commercial acceptance of bean as a fresh vegetable. The genetic basis of important horticultural traits of common bean is still poorly understood, which hinders DNA marker-assisted breeding in this crop. Here we report the identification of single-locus and epistatic quantitative trait loci (QTLs), as well as their environment interaction effects for six pod traits, namely width, thickness, length, size index, beak length and color, using an Andean intra-gene pool recombinant inbred line population from a cross between a cultivated common bean and an exotic nuna bean. The QTL analyses performed detected a total of 23 QTLs (single-locus QTLs and epistatic QTLs): five with only individual additive effects and six with only epistatic effects, while the remaining twelve showed both effects. These QTLs were distributed across linkage groups (LGs) 1, 2, 4, 6, 7, 8, 9, 10 and 11; particularly noteworthy are the QTLs for pod size co-located on LGs 1 and 4, indicative of tight linkage or genes with pleiotropic effects governing these traits. Overall, the results obtained showed that additive and epistatic effects are the major genetic basis of pod size and color traits. The mapping of QTLs including epistatic loci for the six pod traits evaluated provides support for implementing marker-assisted selection toward genetic improvement of common bean.

Marker-based linkage map of Andean common bean (Phaseolus vulgarisL.) and mapping of QTLs underlying popping ability traits

BackgroundNuña bean is a type of ancient common bean (Phaseolus vulgaris L.) native to the Andean region of South America, whose seeds possess the unusual property of popping. The nutritional features of popped seeds make them a healthy low fat and high protein snack. However, flowering of nuña bean only takes place under short-day photoperiod conditions, which means a difficulty to extend production to areas where such conditions do not prevail. Therefore, breeding programs of adaptation traits will facilitate the diversification of the bean crops and the development of new varieties with enhanced healthy properties. Although the popping trait has been profusely studied in maize (popcorn), little is known about the biology and genetic basis of the popping ability in common bean. To obtain insights into the genetics of popping ability related traits of nuña bean, a comprehensive quantitative trait loci (QTL) analysis was performed to detect single-locus and epistatic QTLs responsible for the phenotypic variance observed in these traits.ResultsA mapping population of 185 recombinant inbred lines (RILs) derived from a cross between two Andean common bean genotypes was evaluated for three popping related traits, popping dimension index (PDI), expansion coefficient (EC), and percentage of unpopped seeds (PUS), in five different environmental conditions. The genetic map constructed included 193 loci across 12 linkage groups (LGs), covering a genetic distance of 822.1 cM, with an average of 4.3 cM per marker. Individual and multi-environment QTL analyses detected a total of nineteen single-locus QTLs, highlighting among them the co-localized QTLs for the three popping ability traits placed on LGs 3, 5, 6, and 7, which together explained 24.9, 14.5, and 25.3% of the phenotypic variance for PDI, EC, and PUS, respectively. Interestingly, epistatic interactions among QTLs have been detected, which could have a key role in the genetic control of popping.ConclusionsThe QTLs here reported constitute useful tools for marker assisted selection breeding programs aimed at improving nuña bean cultivars, as well as for extending our knowledge of the genetic determinants and genotype x environment interaction involved in the popping ability traits of this bean crop.

Hypothalamic expression ofPeg3gene is associated with maternal care differences between SM/J and LG/J mouse strains

Maternal care is essential in mammals, and variations in the environment provided by mothers may directly influence the viability of newborns and emotional behavior later in life. A previous study investigated genetic variations associated with maternal care in an intercross of LG/J and SM/J inbred mouse strains and identified two single-locus QTLs (quantitative trait loci). Here, we selected three candidate genes located within these QTLs intervals; Oxt on chromosome 2, and FosB and Peg3 on chromosome 7 and tested their association with maternal care. LG/J females showed impaired postpartum nest building and pup retrieval, a one-day delay in milk ejection, reduced exploratory activity, and higher anxiety-like behavior when compared to SM/J females. The nucleotide sequences of Oxt and FosB were similar between strains, as were their hypothalamic expression levels. Conversely, Peg3 nucleotide sequences showed four nonsynonymous replacement substitutions on LG/J dams, T11062G, G13744A, A13808G, and G13813A, and a 30 base pair (10 aa) in tandem repeat in the coding region with three copies in SM/J and five copies in LG/J. Maternal care impaired LG/J mothers express 37% lower Peg3 mRNA levels in the hypothalamus on the second postpartum day. We also found an association of the Peg3 repeat-variant and poor maternal care in F2 heterozygote females derived from a LG/J × SM/J intercross. These results may suggest that the maternally imprinted Peg3 gene is responsible for the single-locus QTL on chromosome 7 that has been shown to influence maternal care in these strains. Furthermore, these data provide additional support for an epigenetic regulation of maternal behavior.

Mapping single-locus and epistatic quantitative trait loci for plant architectural traits in chrysanthemum

Plant architecture is important for chrysanthemum cultivation and breeding. To determine the genetic basis of plant architectural traits in chrysanthemum, a population of 142 F1 plants derived from a cross between the creeping ground-cover chrysanthemum cultivar Yuhualuoying and the erect potted cultivar Aoyunhanxiao was used to detect quantitative trait loci (QTL) associated with plant height, plant width, inter-node length and flower neck length. The broad-sense heritability hB2 for the four plant architectural traits ranged from 0.33 to 0.83, and transgressive segregation was observed. Single-locus QTL analysis revealed a total of five QTL, accounting for 6.0–16.1% of the phenotypic variation. Additionally, 11 pairs of epistatic QTL were identified, explaining 3.5–14.5% of the phenotypic variations. The majority of the interactions detected occurred between background loci. These results indicate that both additive and epistatic effects contribute to phenotypic variation in the plant architecture of chrysanthemum. It is expected that the identified markers associated with the additive QTL and epistatic QTL detected in this study will be of importance in future breeding programs to develop chrysanthemum cultivars exhibiting desirable plant architecture.

Region-based and pathway-based QTL mapping using a p-value combination method

Quantitative trait locus (QTL) mapping using deep DNA sequencing data is a challenging task. In this study we performed region-based and pathway-based QTL mappings using a p-value combination method to analyze the simulated quantitative traits Q1 and Q4 and the exome sequencing data. The aims were to evaluate the performance of the QTL mapping approaches that were used and to suggest plausible strategies for QTL mapping of DNA sequencing data. We conducted single-locus QTL mappings using a linear regression model with adjustments for age and smoking status, and we also conducted region-based and pathway-based QTL mappings using a truncated product method for combining p-values from the single-locus QTL mapping. To account for the features of rare variants and common single-nucleotide polymorphisms (SNPs), we considered independently rare-variant-only, common-SNP-only, and combined analyses. An analysis of 200 simulated replications showed that the three region-based methods reasonably controlled type I error, whereas the combined analysis yielded the greatest statistical power. Rare-variant-only, common-SNP-only, and combined analyses were also applied to pathway-based QTL mappings. We found that pathway-based QTL mappings had a power of approximately 100% when the significance of the vascular endothelial growth factor pathway was evaluated, but type I errors were slightly inflated. Our approach complements single-locus QTL mapping. An integrated approach using single-locus, combined region-based, and combined pathway-based analyses should yield promising results for QTL mapping of DNA sequencing data.

Genetic dissection of intersubgenomic heterosis in Brassica napus carrying genomic components of B. rapa

Although strong intersubgenomic heterosis for seed production has been observed between “natural” domesticated Brassica napus (rapeseed, AACC) and a new type of rapeseed into which subgenomic components of Brassica rapa (AA) have been introgressed, the molecular genetic mechanism of this intersubgenomic heterosis is not understood. In this study, a recombinant inbred line population of new type rapeseed derived from a cross between B. napus and B. rapa, together with a population from a backcross with the parental line of B. napus, was used to identify single-locus quantitative trait locus (QTL) and interacting QTL pairs for yield and nine yield-related traits. More than half of single-locus QTLs and interacting QTL pairs detected were involved with the novel alleles induced by the introgression of B. rapa. The alleles directly from B. rapa A genome played a secondary role in contributing to intersubgenomic heterosis. Allelic and nonallelic interactions of both novel alleles generated by B. rapa introgression and the alleles directly from B. rapa A genome contributed to the intersubgenomic heterosis between “natural” domesticated rapeseed and new type rapeseed into which B. rapa had been introgressed. Six loci for fixed heterosis were identified and their possible applications are also discussed.

The contribution of epistatic pleiotropy to the genetic architecture of covariation among polygenic traits in mice

The contribution that pleiotropic effects of individual loci make to covariation among traits is well understood theoretically and is becoming well documented empirically. However, little is known about the role of epistasis in determining patterns of covariation among traits. To address this problem we combine a quantitative trait locus (QTL) analysis with a two-locus model to assess the contribution of epistasis to the genetic architecture of variation and covariation of organ weights and limb bone lengths in a backcross population of mice created from the M16i and CAST/Ei strains. Significant epistasis was exhibited by 14 pairwise combinations of QTL for organ weights and 10 combinations of QTL for limb bone lengths, which contributed, on average, about 5% of the variation in organ weights and 8% in limb bone lengths beyond that of single-locus QTL effects. Epistatic pleiotropy was much more common in the limb bones (seven of 10 epistatic combinations affecting limb bone lengths were pleiotropic) than the organs (three of the 14 epistatic combinations affecting organ weights were pleiotropic). In both cases, epistatic pleiotropy was less common than single-locus pleiotropy. Epistatic pleiotropy accounted for an average of 6% of covariation among organ weights and 21% of covariation among limb bone lengths, which represented an average of one-fifth (for organ weights) and one-third (for limb bone lengths) of the total genetic covariance between traits. Thus, although epistatic pleiotropy made a smaller contribution than single-locus pleiotropy, it clearly made a significant contribution to the genetic architecture of variation/covariation.

Genetic analysis of loci associated with partial resistance to Sclerotinia sclerotiorum in rapeseed (Brassica napus L.)

Sclerotinia stem rot is the most devastating disease of rapeseed (Brassica napus L.) in China. Quantitative trait loci (QTLs) involved in resistance to Sclerotinia sclerotiorum were detected in a rapeseed population of 128-F(2:3) families derived from a cross between the male sterility restorer line H5200 and a partial resistant line Ning RS-1. A total of 107 molecular markers including 72 RFLPs, 30 AFLPs, 3 SSRs and 2 RAPDs were employed to construct a genetic linkage map with 23 linkage groups covering 1,625.7 cM with an average space of 15.2 cM. Resistance was assessed empirically at two developmental stages: with a detached leaf inoculation at the seedling stage and in vivo stem inoculation at the mature plant stage. The observed resistance was scored for each plant as leaf resistance at the seedling stage (LRS) and stem resistance at the mature plant stage (SRM). A total of 13 loci were identified by one-way ANOVA and six QTLs were detected with MapMaker-QTL. We found that three of the six QTLs were associated with leaf resistance at the seedling stage and collectively accounted for 40.7% of the total phenotypic variation, each accounting for 23.2%, 16.6% and 13.6% respectively. Three QTLs were found corresponding to the disease resistance at the mature plant stage, explaining 49.0% of the phenotypic variation. Epistasis was observed for the resistance and the additive by additive interactions were the predominant type of epistasis. It was concluded that both single-locus QTLs and epistatic interactions played important roles in Sclerotinia resistance in rapeseed.