Assessment of parent-of-origin effects in linkage analysis of quantitative traits

Methods are presented for incorporation of parent-of-origin effects into linkage analysis of quantitative traits. The estimated proportion of marker alleles shared identical by descent is first partitioned into a component derived from the mother and a component derived from the father. These parent-specific estimates of allele sharing are used in variance-components or Haseman-Elston methods of linkage analysis so that the effect of the quantitative-trait locus carried on the maternally derived chromosome is potentially different from the effect of the locus on the paternally derived chromosome. Statistics for linkage between trait and marker loci derived from either or both parents are then calculated, as are statistics for testing whether the effect of the maternally derived locus is equal to that of the paternally derived locus. Analyses of data simulated for 956 siblings from 263 nuclear families who had participated in a linkage study revealed that type I error rates for these statistics were generally similar to nominal values. Power to detect an imprinted locus was substantially increased when analyzed with a model allowing for parent-of-origin effects, compared with analyses that assumed equal effects; for example, for an imprinted locus accounting for 30% of the phenotypic variance, the expected LOD score was 4.5 when parent-of-origin effects were incorporated into the analysis, compared with 3.1 when these effects were ignored. The ability to include parent-of-origin effects within linkage analysis of quantitative traits will facilitate genetic dissection of complex traits.     

QTLs for fertility in table grape (<Emphasis Type="Italic">Vitis vinifera</Emphasis> L.)

Fertility (number of inflorescences per shoot) is a trait of major importance for grapevine breeding. We present and compare the results of quantitative trait locus (QTL) detection for fertility in two table grape progenies, MTP3140 and MTP3234. Novel parental and consensus maps were built for MTP3140. We found a main QTL on linkage group (LG) 5 in both progenies, which was also the most stable one across years. It explained up to 18.5% of the total intra-cross phenotypic variance. Three other QTLs, one on LG 5 and two on LG 14, were repeated over years but were found in a single progeny. Our results suggest that QTLs effect was mainly additive. The prospects for testing candidate genes are discussed as well as the potential interest of these results for marker-assisted selection.     

Oil palm (Elaeis guineensis Jacq.) linkage map,and quantitative trait locus analysis for sex ratio and related traits

Sex ratio and shell-thickness type are among the main components determining yield in oil palm. An integrated linkage map of oil palm was constructed based on 208 offspring derived from a cross between two tenera palms differing in inherited sex ratio. The map consisted of 210 genomic simple sequence repeats (SSRs), 28 expressed sequence tag SSRs, 185 amplified fragment length polymorphism markers, and the Sh locus, which controls shell-thickness phenotype, distributed across 16 linkage groups covering 1,931 cM, with an average marker distance of 4.6 cM. Quantitative trait locus (QTL) analysis identified eight QTLs across six linkage groups associated with sex ratio and related traits. These QTLs explained 8.1–13.1 % of the total phenotypic variance. The QTL for sex ratio on linkage group 8 overlapped with a QTL for number of male inflorescences. In most cases a specific QTL allele combination was responsible for genotype class mean differences, suggesting that most QTLs in heterozygous oil palm are likely to be segregating for multiple alleles with different degrees of dominance. In addition, two new SSRs were shown to flank the major Sh locus controlling the fruit variety type in oil palm.     

Maximum likelihood techniques for the mapping and analysis of quantitative trait loci with the aid of genetic markers

A method is presented to estimate the biometric parameters of a quantitative trait locus linked to a genetic marker when both loci are segregating in the F-2 generation of a cross between two inbred lines. The method, which assumes underlying normal distributions, is a combination of maximum likelihood and moments methods and uses the statistics of the genetic marker genotype samples for the quantitative trait to estimate the recombination frequency between the two loci and the means and variances of the genotypes of the quantitative trait locus. With this method, the genetic parameters of a locus affecting plant height linked to an electrophoretic marker for esterase were accurately estimated from a sample of 1596 F-2 progeny of a cross between two species of Lycopersicon (tomato). Linkage distance between the two loci was 38 map units and the effect of the quantitative trait locus was 1.6 phenotypic standard deviation units. Accurate estimates of the genetic parameters and linkage distance for populations of 2000 individuals simulated with a segregating codominant locus with an effect of 1.63 standard deviations linked to a genetic marker with .2 recombination were also derived by this method. The method is not effective in distinguishing between complete and partial linkage in samples of only 500 individuals or for quantitative loci with effects less than a phenotypic standard deviation. The method is more effective for codominant than for dominant loci.     

A genetic analysis of seed and berry weight in grapevine.

Fruit size and seedlessness are highly relevant traits in many fruit crop species, and both are primary targets of breeding programs for table grapes. In this work we performed a quantitative genetic analysis of size and seedlessness in an F1 segregating population derived from the cross between a classical seeded (Vitis vinifera L. 'Dominga') and a newly bred seedless ('Autumn Seedless') cultivar. Fruit size was scored as berry weight (BW), and for seedlessness we considered both seed fresh weight (SFW) and the number of seeds and seed traces (SN) per berry. Quantitative trait loci (QTL) analysis of BW detected 3 QTLs affecting this trait and accounting for up to 67% of the total phenotypic variance. QTL analysis for seedlessness detected 3 QTLs affecting SN (explaining up to 35% of total variance) and 6 affecting SFW (explaining up to 90% of total variance). Among them, a major effect QTL explained almost half of the phenotypic variation for SFW. Comparative analysis of QTLs for these traits reduced the number of grapevine genomic regions involved, one of them being a major effect QTL for seedlessness. Association analyses showed that microsatellite locus VMC7F2, closely linked to this QTL, is a useful marker for selection of seedlessnes.     

QTLs mapping of physiological traits related to salt tolerance in young rice seedlings

Oryza sativa L. F₂ population and F_2:3 derived from a cross between salt tolerance cv. Tarommahali and salt sensitive cv. Khazar were used in this study. A linkage map based on F₂ population was constructed (74 SSR markers on 192 individuals), which covered a total of 1231.50 cM with an average two locus interval of 19.83 cM. Two QTLs related to Na⁺/K⁺ ratio were found on chromosome 3 and 6. qDM-3 and qDM-8 (for dry mass of shoot) are major QTLs with very large effects explained 20.90 and 17.72 % of the total phenotypic variance, respectively. Major locus for DM (qDM-3) was bracketed by RM1022 — RM6283 spread over 13.6 cM on chromosome 3. Major part of the variability for standard tolerance ranking (STR) was explained by the qSTR-6 flanked by RM3727 — RM340 on chromosome 6, which exhibited phenotypic variance of 17.25 % and peak likelihood ratio (LR) of 17.51. The length of this QTL is 8.8 cM and identification of any tightly linked markers in this region will serve as a candidate gene for fine-mapping. qSTR-3 overlapped with qNA-3 and qNAK-3. The qSTR-3 may contain a new major gene for salt stress tolerance at seedling stage in rice. Major QTLs identified in this paper, after fine-mapping, could be used for marker assisted selection.     

Quantitative trait loci for lodging resistance in a segregating wheat×spelt population

 Lodging can strongly affect both the grain yield and the quality of wheat. Lodging represents a quantitative trait and is difficult to assess on a phenotypic basis. Marker-assisted selection (MAS) could therefore become an important tool in breeding for lodging resistance. In this study, we mapped and characterised quantitative trait loci (QTLs) for lodging resistance, as well as morphological traits correlated with lodging, in a segregating population of 226 recombinant inbred lines derived from the cross of the lodging-resistant wheat variety Forno with the susceptible spelt variety Oberkulmer. Lodging, plant height, leaf width, leaf-growth habit, culm stiffness, culm swinging, culm thickness, days to ear emergence and days to flowering were assessed in field trials at two locations in 1996 and at one location in 1997. Additionally, at one location weight and length parameters were also assessed. Plant height and culm stiffness explained 77% of the phenotypic variance of lodging in a multiple regression model over all three environments. QTL analysis of lodging and morphological parameters was based on a genetic map containing 230 loci with 23 linkage groups (2469 cM). With the method of composite interval mapping nine QTLs for lodging resistance were detected, explaining 63% of the phenotypic variance in a simultaneous fit. Seven of these QTLs coincided with QTLs for morphological traits, reflecting the correlations between these traits and lodging. In our population the most efficient way to improve lodging resistance would be by a combination of indirect selection on plant height and culm stiffness together with MAS on the two QTLs for lodging resistance which did not coincide with QTLs for morphological traits. Received: 3 August 1998 / Accepted: 28 November 1998     

Mapping quantitative trait loci using multiple phenotypes in general pedigrees

The use of correlated phenotypes may dramatically increase the power to detect the underlying quantitative trait loci (QTLs). Current approaches for multiple phenotypes include regression-based methods, the multivariate variance of components method, factor analysis and structural equations. Issues with these methods include: 1) They are computation intensive and are subject to problems of optimization algorithms; 2) Existing claims on the asymptotic distribution of the likelihood ratio statistic for the multivariate variance of components method are contradictory and erroneous; 3) The dimension reduction of the parameter space under the null hypothesis, a phenomenon that is unique to multivariate analyses, makes the asymptotic distribution of the likelihood ratio statistic more complicated than expected. In this article, three cases of varying complexity are considered. For each case, the efficient score statistic, which is asympotically equivalent to the likelihood ratio statistic, is derived, so is its asymptotic distribution [correction]. These methods are straightforward to calculate. Finite-sample properties of these score statistics are studied through extensive simulations. These score statistics are for use with general pedigrees.     

Genetic dissection of sex determinism, inflorescence morphology and downy mildew resistance in grapevine

A genetic linkage map of grapevine was constructed using a pseudo-testcross strategy based upon 138 individuals derived from a cross of Vitis vinifera Cabernet Sauvignon × Vitis riparia Gloire de Montpellier. A total of 212 DNA markers including 199 single sequence repeats (SSRs), 11 single strand conformation polymorphisms (SSCPs) and two morphological markers were mapped onto 19 linkage groups (LG) which covered 1,249 cM with an average of 6.7 cM between markers. The position of SSR loci in the maps presented here is consistent with the genome sequence. Quantitative traits loci (QTLs) for several traits of inflorescence and flower morphology, and downy mildew resistance were investigated. Two novel QTLs for downy mildew resistance were mapped on linkage groups 9 and 12, they explain 26.0–34.4 and 28.9–31.5% of total variance, respectively. QTLs for inflorescence morphology with a large effect (14–70% of total variance explained) were detected close to the Sex locus on LG 2. The gene of the enzyme 1-aminocyclopropane-1-carboxylic acid synthase, involved in melon male organ development and located in the confidence interval of all QTLs detected on the LG 2, could be considered as a putative candidate gene for the control of sexual traits in grapevine. Co-localisations were found between four QTLs, detected on linkage groups 1, 14, 17 and 18, and the position of the floral organ development genes GIBBERELLIN INSENSITIVE1, FRUITFULL, LEAFY and AGAMOUS. Our results demonstrate that the sex determinism locus also determines both flower and inflorescence morphological traits.     

Quantitative genetic analysis of flowering time in tomato.

Artificial selection of cultivated tomato (Solanum lycopersicum L.) has resulted in the generation of early-flowering, day-length-insensitive cultivars, despite its close relationship to other Solanum species that need more time and specific photoperiods to flower. To investigate the genetic mechanisms controlling flowering time in tomato and related species, we performed a quantitative trait locus (QTL) analysis for flowering time in an F2 mapping population derived from S. lycopersicum and its late-flowering wild relative S. chmielewskii. Flowering time was scored as the number of days from sowing to the opening of the first flower (days to flowering), and as the number of leaves under the first inflorescence (leaf number). QTL analyses detected 2 QTLs affecting days to flowering, which explained 55.3% of the total phenotypic variance, and 6 QTLs for leaf number, accounting for 66.7% of the corresponding phenotypic variance. Four of the leaf number QTLs had not previously been detected for this trait in tomato. Colocation of some QTLs with flowering-time genes included in the genetic map suggests PHYB2, FALSIFLORA, and a tomato FLC-like sequence as candidate genes that might have been targets of selection during the domestication of tomato.     

Exact multipoint quantitative-trait linkage analysis in pedigrees by variance components

Methods based on variance components are powerful tools for linkage analysis of quantitative traits, because they allow simultaneous consideration of all pedigree members. The central idea is to identify loci making a significant contribution to the population variance of a trait, by use of allele-sharing probabilities derived from genotyped marker loci. The technique is only as powerful as the methods used to infer these probabilities, but, to date, no implementation has made full use of the inheritance information in mapping data. Here we present a new implementation that uses an exact multipoint algorithm to extract the full probability distribution of allele sharing at every point in a mapped region. At each locus in the region, the program fits a model that partitions total phenotypic variance into components due to environmental factors, a major gene at the locus, and other unlinked genes. Numerical methods are used to derive maximum-likelihood estimates of the variance components, under the assumption of multivariate normality. A likelihood-ratio test is then applied to detect any significant effect of the hypothesized major gene. Simulations show the method to have greater power than does traditional sib-pair analysis. The method is freely available in a new release of the software package GENEHUNTER.     

Quantitative trait locus analysis of tuber dormancy in diploid potato (Solanum spp.)

Quantitative trait locus (QTL) analysis for tuber dormancy was performed in a diploid potato population (TRP133) consisting of 110 individuals. The female parent was a hybrid between haploid S. tuberosum (2x) and S. chacoense, while the male parent was a S. phureja clone. The population was characterized for ten isozyme loci, 44 restriction fragment length polymorphisms (RFLPs) and 63 random amplified polymorphic DNAs (RAPDs). Eighty-seven of these loci segregating from the female parent were utilized to develop a linkage map that comprised 10 of the 12 chromosomes in the genome. Dormancy, as measured by days-to-sprouting after harvest, ranged from 10 to 90 days, with a mean of 19 days. QTLs were mapped by conducting one-way analyses of variance for each marker locus by dormancy combination. Twenty-two markers had a significant association with dormancy, identifying six putative QTLs localized on each of chromosomes 2, 3, 4, 5, 7 and 8. The QTL with the strongest effect on dormancy was detected on chromosome 7. A multilocus model was developed using the locus with highest R² value in each QTL. This model explained 57.5% of the phenotypic variation for dormancy. Seven percent of possible epistatic interactions among significant markers were significant when tested through two-way analyses of variance. When these were included in the main-effects model, it explained 72.1% of the phenotypic variation for dormancy. QTL analysis in potato, the methodology to transfer traits and interactions into the 4x level, and QTLs of value for marker-assisted selection, are discussed.     

Mapping quantitative trait loci for a common bean (Phaseolus vulgaris L.) ideotype.

Breeding a model plant that encompasses individual traits thought to enhance yield potential, known as ideotype breeding, has traditionally focused on phenotypic selection of plants with desirable morphological traits. Broadening this breeding method to the molecular level through the use of molecular markers would avoid the environmental interactions associated with phenotypic selection. A population of 110 F5 recombinant inbred lines (RILs), derived from the cross between WO3391 and 'OAC Speedvale', was used to develop a genetic linkage map consisting of 105 random amplified polymorphic DNA (RAPD), simple sequence repeat (SSR), and sequence-tagged site (STS) markers. The map has a total length of 641 cM distributed across 8 linkage groups (LGs). Five of them were aligned on the core linkage map of bean. Twenty-one quantitative trait loci (QTLs) were identified over three environments for eight agronomic and architectural traits previously defined for a bean (Phaseolus vulgaris L.) ideotype. The QTLs were mapped to seven LGs with several regions containing QTLs for multiple traits. At least one QTL was located for each trait and a maximum of four were associated with lodging. Total explained phenotypic variance ranged from 10.6% for hypocotyl diameter to 45.4% for maturity. Some of the QTLs identified will be useful for early generation selection of tall, upright, high-yielding lines in a breeding program.     

Mapping of Quantitative Trait Loci for Butter Content and Hardness in Cocoa Beans (Theobroma cacao L.)

Cocoa butter is an important raw material for the chocolate, pharmaceutical, and cosmetic industries. The butter content and quality in cocoa beans are genetically controlled characteristics, and affect its commercial value and industrial applicability. In the present work, an F₂ population derived from the cross between the ICS-1 and Scavina-6 cocoa clones was used for molecular mapping. A linkage map was constructed based on amplified fragment length polymorphism, random amplified polymorphic DNA, and simple sequence repeat markers, resulting in a total of 273 markers, distributed in 14 linkage groups (LGs). Phenotyping of butter content was performed after ether extraction and butter hardness was determined by sweeping differential calorimetry. One quantitative trait locus (QTL) associated to butter content was mapped at linkage group 9 (LG9) and two QTLs for butter hardness were identified at linkage groups 9 and 7 (LG9 and LG7). The two QTLs mapped at the LG9 explained 51.0% and 28.8% of the phenotypic variation for butter content and hardness, respectively. These QTLs were concentrated in the same map region, suggesting a close genetic linkage or pleiotropic effect. The QTLs identified may be useful in further marker-assisted selection breeding programs aimed at cocoa butter quality improvement.     

Identification of genomic regions that affect grain-mould incidence and other traits of agronomic importance in sorghum

Grain-mould is a major problem in grain sorghum utilization as mouldy grain has a reduced quality due to the deterioration of the endosperm and reduced embryo viability. Here, our objective was to use genome mapping to improve knowledge of genetic variation and co-variation for grain-mould incidence and other inter-related agronomic traits. Grain-mould incidence, kernel-milling hardness, grain density, plant height, panicle peduncle length, foliar-disease incidence, and plant color were measured on 125 F₅ genotypes derived from a cross of Sureño and RTx430. Quantitative trait loci were detected by means of 130 mapped markers (44 microsatellites, 85 AFLPs, one morphological-trait locus) distributed among ten linkage groups covering 970 cM. One to five QTLs affected each trait, with the exception of grain density for which no QTLs were detected. Grain-mould incidence was affected by five QTLs each accounting for between 10 and 23% of the phenotypic variance. The effects and relative positions of QTLs for grain-mould incidence were in accordance with the QTL distribution of several inter-related agronomic traits (e.g., plant height, peduncle length) and with the correlation between these phenotypic traits and grain-mould incidence. The detection of QTLs for grain-mould incidence was dependent on the environment, which is consistent with heritibility estimates that show strong environmental and genotype × environment effects. Several genomic regions affected multiple traits including one region that affected grain-mould incidence, plant height, panicle peduncle length, and grain-milling hardness, and a second region that influenced grain-mould (in four environments) and plant height. One genomic region, which harbors loci for plant color, influenced the severity of foliar disease symptoms and the incidence of grain-mould in one environment. Collectively QTLs detected in the present population explained between 10% and 55% of the phenotypic variance observed for a given trait.     

Quantitative trait loci affecting stomatal density and growth in a Quercus robur progeny: implications for the adaptation to changing environments

Stomatal traits are important to cope with changes in levels of atmospheric carbon dioxide (CO₂) and with changing availability of water. Thus, they are expected to be involved in the reactions of plants to climate change. They are known to show a plastic physiological response to environmental factors such as elevated CO₂ concentrations, but they are also under genetic control and should undergo evolutionary change if selection differs among environments. Stomatal development is regulated by several environmental and genetic signals suggesting a polygenic inheritance. In the present study, F₁ progeny derived from a cross between Quercus robur and Q. robur subsp. slavonica were used to map QTLs (quantitative trait loci) for stomatal densities and growth parameters under nonwater stress conditions in 2 and 3 consecutive years, respectively. The positions of QTLs for stomatal density and growth coincided on six linkage groups. The QTL allele associated with the higher stomatal density was generally associated with taller plants and size increment indicating pleiotropic gene effects or close linkage. The phenotypic effects of the individual QTLs were mostly moderate in terms of phenotypic variance explained. However, a considerable amount of the genetically determined variation was explained by QTLs for stomatal density (from 63.6% to 94.4%). Especially, the QTL on linkage group 11 had a strong and highly significant effect on stomatal densities and growth parameters in all years suggesting a major QTL on this linkage group. The importance to analyse the genetic variation controlling complex adaptive traits in keystone species as oaks is discussed with regard to a better understanding of the reactions of ecosystems to global change.     

不同发育时期小麦粒重性状QTL的动态分析

利用6044×01-35构建的重组自交系(RIL)群体为试验材料,对小麦粒重性状进行发育动态QTL分析。结果表明,在小麦花后子粒灌浆的7个不同时期,两个试验点共检测到16个与粒重性状相关的QTL。其中开花后20d检测到的单穗粒重QTL位于2A染色体上,解释率达12%,遗传效应超过10;两环境下控制千粒重QTL在7个时期均被检测到。花后的各个时期均能在Xgwm448-Xgpw7399标记区间定位到千粒重QTL。其中花后10d检测到1个千粒重QTL,位于2A染色体的Xgwm448-Xgpw7399标记区间,解释较大的表型变异,达到18%。Qtl8、Qtl13和Qtl14均定位在Xgwm448-Xgpw7399标记区间的同一位置,共同解释11%的表型变异。花后20d和花后25d均检测到1个QTL,位于2A染色体的Xgwm372-Xgwm95标记区间的不同位点,均能解释4%的表型变异。花后40d检测到1个QTL,位于1D染色体的Xwmc93-Xgpw2224标记区间,解释1%的表型变异。从连锁群的位置上看,控制千粒重的QTL主要集中在2A染色体的Xgwm448-Xgpw7399标记区间,这是一个控制千粒重QTL的富集区域,以期进行精细定位和图位克隆。     

QTL analysis of root-lesion nematode resistance in barley: 1. Pratylenchus neglectus

The root-lesion nematode Pratylenchus neglectus can cause severe losses in barley cultivation. Multiplication rates had been found to vary greatly between different barley accessions. Two winter barley cultivars, Igri and Franka, had been found to differ in their ability to resist this parasite. An existing Igri?×?Franka doubled haploid population was chosen to genetically map resistance genes after artificial inoculation with P. neglectus in the greenhouse and climate chamber. A continuous phenotypic variation was found indicating a quantitative inheritance of P. neglectus resistance. An existing map was enriched by 527 newly developed Diversity Array Technology markers (DArTs). The new genetic linkage map was comprised of 857 molecular markers that cover 1,157?cM on seven linkage groups. Using phenotypic data collected from four different experiments in 3?years, five quantitative trait loci were mapped by composite interval mapping on four (3H, 5H, 6H and 7H) linkage groups. A quantitative trait locus with a large phenotypic effect of 16% and likelihood of odds (LOD) score of 6.35 was mapped on linkage group 3H. The remaining four QTLs were classified as minor or moderate with LOD scores ranging from 2.71 to 3.55 and R ² values ranging from 8 to 10%. The DNA markers linked to the resistance QTLs should be quite useful for marker-assisted selection in barley breeding because phenotypic selection is limited due to time constraints and labor costs.     

Identification of quantitative trait loci and epistatic interactions for plant height and heading date in rice

Appropriate heading date and plant height are prerequisites for attaining the desired yield level in rice breeding programs. In this study, we analyzed the genetic bases of heading date and plant height at both single- locus and two-locus levels, using a population of 240 F_2:3 families derived from a cross between two elite rice lines. Measurements for the traits were obtained over 2 years in replicated field trials. A linkage map was constructed with 151 polymorphic marker loci, based on which interval mapping was performed using Mapmaker/QTL. The analyses detected six QTLs for plant height and six QTLs for heading date; collectively the QTLs for heading date accounted for a much greater amount of phenotypic variation than did the QTLs for plant height. Two-way analyses of variance, with all possible two-locus combinations, detected large numbers (from 101 to 257) of significant digenic interactions in the 2 years for both traits involving markers distributed in the entire genome; 22 and 39 were simultaneously detected in both years for plant height and heading date, respectively. Each of the interactions individually accounted for only a very small portion of the phenotypic variation. The majority of the significant interactions involved marker loci that did not detect significant effects by single-locus analyses, and many of the QTLs detected by single-locus analyses were involved in epistatic interactions. The results clearly demonstrated the importance of epistatic interactions in the genetic bases of heading date and plant height. Received: 5 May 2001 / Accepted: 3 August 2001