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Blood pressure QTLs identified by genome-wide linkage analysis and dependence on associated phenotypes.

Understanding genetic factors that contribute to population-wide variation in blood pressure is likely to benefit prevention and treatment of cardiovascular disease. The aim of the Victorian Family Heart Study is to identify genes for cardiovascular risk in 783 volunteer adult families recruited from the general population. In this preliminary study we sought to identify quantitative trait loci (QTLs) using a genome-wide linkage analysis in 274 adult sibling pairs of average age 24 yr selected without respect to blood pressure. We compared multipoint linkage results for carefully measured systolic (SBP) and diastolic (DBP) pressures before and after statistical adjustment for covariation with sex, oral contraception, age, height, and weight. The average BP was 123/67 (SD: 12/11) mmHg in males (n = 283) and 114/64 (SD: 10/9) mmHg in females (n = 265). Nonparametric Z-scores from multipoint GeneHunter II analysis were "suggestive" (3.1 or more) at four QTLs for SBP (chromosomes 1, 4, 16, and X) but at no QTLs for DBP. Most Z-scores were affected little by adjustment for covariates. However, the SBP QTL on chromosome 16 was obvious only for unadjusted pressures. This population-based quantitative trait analysis has identified more QTLs than any of the eight previous genome-wide scans for blood pressure. Considerable discrepancies between different studies may reflect the presence of false-positive results or real biological differences between populations.

Adolescent↗

Multiple QTLs influencing triglyceride and HDL and total cholesterol levels identified in families with atherogenic dyslipidemia.

We conducted a genome-wide scan using variance components linkage analysis to localize quantitative-trait loci (QTLs) influencing triglyceride (TG), high density lipoprotein-cholesterol (HDL-C), low density lipoprotein-cholesterol, and total cholesterol (TC) levels in 3,071 subjects from 459 families with atherogenic dyslipidemia. The most significant evidence for linkage to TG levels was found in a subset of Turkish families at 11q22 [logarithm of the odds ratio (LOD)=3.34] and at 17q12 (LOD=3.44). We performed sequential oligogenic linkage analysis to examine whether multiple QTLs jointly influence TG levels in the Turkish families. These analyses revealed loci at 20q13 that showed strong epistatic effects with 11q22 (conditional LOD=3.15) and at 7q36 that showed strong epistatic effects with 17q12 (conditional LOD=3.21). We also found linkage on the 8p21 region for TG in the entire group of families (LOD=3.08). For HDL-C levels, evidence of linkage was identified on chromosome 15 in the Turkish families (LOD=3.05) and on chromosome 5 in the entire group of families (LOD=2.83). Linkage to QTLs for TC was found at 8p23 in the entire group of families (LOD=4.05) and at 5q13 in a subset of Turkish and Mediterranean families (LOD=3.72). These QTLs provide important clues for the further investigation of genes responsible for these complex lipid phenotypes. These data also indicate that a large proportion of the variance of TG levels in the Turkish population is explained by the interaction of multiple genetic loci.

Adult↗

Disease resistance gene analogs as candidates for QTLs involved in pepper-pathogen interactions.

Whereas resistance genes (R-genes) governing qualitative resistance have been isolated and characterized, the biological roles of genes governing quantitative resistance (quantitative trait loci, QTLs) are still unknown. We hypothesized that genes at QTLs could share homologies with cloned R-genes. We used a PCR-based approach to isolate R-gene analogs (RGAs) with consensus primers corresponding with conserved domains of cloned R-genes: (i) the nucleotide binding site (NBS) and hydrophobic domain, and (ii) the kinase domain. PCR-amplified fragments were sequenced and mapped on a pepper intraspecific map. NBS-containing sequences of pepper, most similar to the N gene of tobacco, were classified into seven families and all mapped in a unique region covering 64 cM on the Noir chromosome. Kinase domain containing sequences and cloned R-gene homologs (Pto, Fen, Cf-2) were mapped on four different linkage groups. A QTL involved in partial resistance to cucumber mosaic virus (CMV) with an additive effect was closely linked or allelic to one NBS-type family. QTLs with epistatic effects were also detected at several RGA loci. The colocalizations between NBS-containing sequences and resistance QTLs suggest that the mechanisms of qualitative and quantitative resistance may be similar in some cases.

Amino Acid Sequence↗

Detection of QTLs for heading time and photoperiod response in wheat using a doubled-haploid population.

The genetic basis of heading time in wheat (Triticum aestivum L.) was investigated through the study of flowering under normal autumn sown field conditions as well as photoperiod responses under a controlled environment. Quantitative trait loci (QTLs) for these traits were mapped in a doubled-haploid (DH) population derived from a cross between the wheat cultivars 'Courtot' and 'Chinese Spring'. A molecular marker linkage map of this cross that was previously constructed based on 187 DH lines and 380 markers was used for QTL mapping. The genome was well covered (85%) except for chromosomes 1D and 4D, and a set of anchor loci regularly spaced over the genome (one marker each 15.5 cM) was chosen for marker regression analysis. The presence of a QTL was declared at a significance threshold of alpha = 0.005. The population was grown under field conditions in Clermont-Ferrand, France during two years (1994-1995), in Norwich, U.K. over one year (1998), and also under controlled environments in Norwich. For each trait, between 2 and 4 QTLs were identified with individual effects ranging between 6.3% and 44.4% of the total phenotypic variation. Two QTLs were detected that simultaneously affected heading time and photoperiod response. For heading time, these two QTLs were detected in more than one year. One QTL located on chromosome arm 2BS near the locus Xfbb121-2B, co-segregated with the gene Ppd-B1 known to be involved in photoperiod response. This chromosome region explained a large part of the variation (23.4-44.4% depending on the years or the traits). Another region located on chromosome arm 7BS between the loci Xfbb324-7B and Xfbb53-7B also had a strong effect (7.3-15.3%). This region may correspond to a QTL for earliness per se.

Chromosome Mapping↗

Multiple flowering time QTLs within several Brassica species could be the result of duplicated copies of one ancestral gene.

Quantitative trait locus (QTL) analysis was used to study the evolution of genes controlling the timing of flowering in four Brassica genomes that are all extensively replicated. Comparative mapping showed that a chromosomal region from the top of Arabidopsis thaliana chromosome 5 corresponded to three homoeologous copies in each of the diploid species Brassica nigra, B. oleracea, and B. rapa and six copies in the amphidiploid B. juncea. QTLs were detected in two of the three replicated segments in each diploid genome and in three of the six replicated segments in B. juncea. These results indicate that, for the studied trait, multiple QTLs resulting from genome duplication is the rule rather than the exception. Brassica homologues to two candidate genes (CO and FLC) identified from the corresponding A. thaliana region were mapped. CO homologues mapped close to the QTL peaks in eight of nine QTLs, while FLC homologues mapped farther away in those cases where the mapping resolution allowed a comparison. Thus, our data are consistent with the hypothesis that all the major QTLs we detected in the different species of Brassica could be the result of duplicated copies of the same ancestral gene, possibly the ancestor of CO.

Arabidopsis Proteins↗

[Tagging and mapping of QTLs controlling lint yield and yield components in upland cotton (Gossypium hirsutum L.) using SSR and RAPD markers].

Using interval mapping and marker simple regression methods, the QTLs of yield and its components in (Simian 3 x TM-1) F2 and F2:3, were tagged and Mapped with 39 SSR and 10 RAPD markers having polymorphism between parents screened from 301 pair SSR primers and 1040 RAPD primers. Simian 3 is being grown extensively in Yangtze River cotton-growing valley characterized as high productivity with more bolls and higher lint percent, whereas TM-1, Genetic standard in Upland cotton with more heavy boll weight. In the present report, two QTLs controlling boll size with 18.2% and 21.0% phenotype variance explained in F2:3 generation, one QTL controlling lint percent with 24.9% phenotype variance explained in F2 generation and 5.9% in F2:3 generation and one QTL controlling 100-seed weight with 15.6% phenotype variance explained in F2:3 generation were mapped in Chromosome 9. Additionally, another QTL responsible for 100-seed weight was identified and mapped at the same position in Chromosome 9 in F2:3 generation. It is worth for further to be studied whether it is one QTL for pleiotrophism or two closely linked QTLs. The molecular markers mapped and tagged closely with main QTLs of yield traits in this paper can be used for MAS in cotton high-yield breeding program.

China↗

The mapping of QTLS for chlorophyll content and responsiveness to gibberellic (GA3) and abscisic (ABA) acids in rye.

Genetic maps containing molecular markers are useful tools for the identification of genes underlying quantitative traits (QTLs). Three traits important for plant physiology, i.e. chlorophyll content, sensitivity to GA and sensitivity to ABA, were evaluated for 99 F2 families of the DS2 x RXL10 rye mapping population. The observed variation in the chlorophyll content in rye leaves was shown to be under the genetic control of four independent QTLs. They were located on the following chromosome arms: 1RL (QChc-1R.1), 3RS (QChc-3R.1), 4RL (QChc-4R.1) and 5RL (QChc-5R.1) The marker-assisted selection of recombinants comprising positively-acting alleles at these loci may significantly increase the chlorophyll content in rye leaves, which should result in a higher efficiency of photosynthesis. A decreasing of plant height in rye is one of the major aims of breeders selecting for lodging resistance. The polymorphism of genes controlling sensitivity to gibberellic acid may be the basis for a potential selection strategy. Three QTLs underlying the sensitivity of rye seedlings to GA were located on chromosomes 5RL (QGar-5R.1), 1RL (QGar-1R.1) and on 7RL (QGar-7R.1). The dwarfing allele of a Dw1 locus present in line RXL10 was mapped in the same position as the QGar-5R.1 gene. Sensitivity to ABA plays an important role in imposing dormancy in rye grain. Three QTLs affecting sensitivity to ABA were found. They were mapped on chromosomes 1RS (QAbr-1R.1), 2R in the centromeric region (QAbr-2R.1) and on 5RL (QAbr-5R.1). QAbr-5R.1, Dw1 and QGar-5R.1 are located in the same position on the distal part of the 5RL chromosome arm, which suggests that they belong to a single locus for a major regulatory gene controlling the development of rye plants.

Abscisic Acid↗

[Molecular mapping of QTLs for rice milling yield traits].

QTLs of three milling yield traits, including brown rice (BR,%), milled rice (MR,%) and head milled rice (HR,%), were mapped using a set of 212 Lemont/Teqing RI population, an RFLP linkage map with 182 markers and a mixed model approach(QTLMapper V1.0). The population showed continuous distributions with transgressive segregation on both sides for all traits while HR had a wider variation than BR and MR. One and four main effect QTLs were detected for MR and HR. Two QTLs for HR(QHr6 and QHr7) had large additive effects. Twelve, five and sixteen pairs of digenic epistatic loci were associated with BR, MR and HR respectively. Epistasis was more important than main effect QTLs according to the mapping result. A complex relationship was observed for epistatic pairs mapped in same trait or among different traits by sharing intervals.

Chromosome Mapping↗

Interval mapping of QTLs controlling yield-related traits and seed protein content in Pisum sativum.

A linkage map of garden pea was constructed on the basis of 114 plants (F2 generation) derived from a cross combination Wt10245 x Wt11238. The map, consisting of 204 morphological, isozyme, AFLP, ISSR, STS, CAPS and RAPD markers, was used for interval mapping of quantitative trait loci (QTLs) controlling seed number, pod number, 1000-seed weight, 1000-yield, and seed protein content. Characterization of each QTL included identification of QTL position with reference to the flanking markers, estimation of the part of variance explained by this QTL, and determination of its gene action. The yield-related traits were measured in F2 plants and in F4 recombinant inbred lines (RILs). The interval mapping revealed two to six QTLs per trait, demonstrating linkage to seven pea chromosomes. A total of 37 detected QTLs accounted for 9.1-55.9% of the trait's phenotypic variation and showed different types of gene action. As many as eight and ten QTLs influencing the analysed traits were mapped in linkage groups III and V, respectively, indicating an important role of these regions of the pea genome in the control of yield and seed protein content.

Chromosome Mapping↗

Mapping of QTLS for ferrous iron toxicity tolerance in rice (Oryza sativa L.).

Ferrous iron toxicity is the main factor limiting the productivity of rice in gleyic paddy soils. In this study, an F2 and an equivalent F3 populations derived from a japonica/indica cross of rice, Longza8503/IR64, were raised under iron-enriched solution cultures, and used to map QTLs controlling ferrous iron toxicity tolerance. A genetic linkage map consisting of 101 SSR markers was constructed to determine the position and nature of quantitative trait loci (QTLs) affecting Fe2+ toxicity tolerance. Three characters, i.e., leaf bronzing index (LBI), plant height (PH) and maximum root length (MRL) were evaluated for the F2 plants and F3 lines and the parents at the seedling stage in nutrient solution. A total of 20 QTLs for LBI, PH and MRL under the Fe2+ stress were detected over 10 of the 12 rice chromosomes, reflecting multigenic control of these traits. QTLs controlling LBI were located at the region of RM315-RM212 on chromosome 1, RM6-RM240 on chromosome 2 and RM252-RM451 on chromosome 4. Compared with other mapping results: (1) the QTL for LBI located at the region of RM252-RM451 on chromosome 4 was identical with the QTL for decreased chlorophyll content on a rice function map. Another QTL for LBI located at the region of RM315-RM212 on chromosome 1 was linked with the QTL for chlorophyll content which located at the region of C178-R2635 on a rice function map. (2) The third QTL for LBI located at the region of RM6-RM240 on choromosome 2 was linked with the QTL for potassium uptake located at the region of RZ58-CDO686 under potassium deficiency stress.

Chromosome Mapping↗

Comparative mapping of QTLs for Al tolerance in rice and identification of positional Al-induced genes.

Aluminum (Al) toxicity is the major factor limiting crop productivity in acid soils. In this study, a recombinant inbreed line (RIL) population derived from a cross between an Al sensitive lowland indica rice variety IR1552 and an Al tolerant upland japonica rice variety Azucena, was used for mapping quantitative trait loci (QTLs) for Al tolerance. Three QTLs for relative root length (RRL) were detected on chromosome 1, 9, 12, respectively, and 1 QTL for root length under Al stress is identical on chromosome 1 after one week and two weeks stress. Comparison of QTLs on chromosome 1 from different studies indicated an identical interval between C86 and RZ801 with gene(s) for Al tolerance. This interval provides an important start point for isolating genes responsible for Al tolerance and understanding the genetic nature of Al tolerance in rice. Four Al induced ESTs located in this interval were screened by reverse Northern analysis and confirmed by Northern analysis. They would be candidate genes for the QTL.

Aluminum↗

Identification of QTLs associated with citrus resistance to Phytophthora gummosis.

Citrus gummosis, caused by Phytophthora spp., is an important citrus disease in Brazil. Almost all citrus rootstock varieties are susceptible to it to some degree, whereas resistance is present in Poncirus trifoliata, a closely related species. The objective of this study was to detect QTLs linked to citrus Phytophthora gummosis resistance. Eighty individuals of the F1 progeny, obtained by controlled crosses between Sunki mandarin Citrus sunki (susceptible) and Poncirus trifoliata cv. Rubidoux (resistant), were evaluated. Resistance to Phytophthora parasitica was evaluated by inoculating stems of young plants with a disc of fungal mycelia and measuring lesion lengths a month later. Two QTLs linked to gummosis resistance were detected in linkage groups 1 and 5 of the P. trifoliata map, and one QTL in linkage group 2 of the C. sunki map. The phenotypic variation explained by individual QTLs was 14% for C. sunki and ranged from 16 to 24% for P. trifoliata. The low character heritability (h2 = 18.7%) and the detection of more than one QTL associated with citrus Phytophthora gummosis resistance showed that inheritance of the resistance is quantitative.

Chromosome Mapping↗

Candidate genes and QTLs for sugar and organic acid content in peach [ Prunus persica (L.) Batsch].

The identification of genes involved in variation of peach fruit quality would assist breeders in creating new cultivars with improved fruit quality. Major genes and quantitative trait loci (QTLs) for physical and chemical components of fruit quality have already been detected, based on the peach [ Prunus persica (L.) Batsch] cv. Ferjalou Jalousia((R)) (low-acid peach) x cv. Fantasia (normally-acid nectarine) F(2) intraspecific cross. Our aim was to associate these QTLs to structural genes using a candidate gene/QTL approach. Eighteen cDNAs encoding key proteins in soluble sugar and organic acid metabolic pathways as well as in cell expansion were isolated from peach fruit. A single-strand conformation polymorphism strategy based on specific cDNA-based primers was used to map the corresponding genes. Since no polymorphism could be detected in the Ferjalou Jalousia((R)) x Fantasia population, gene mapping was performed on the almond [ Prunus amygdalus ( P. dulcis)] cv. Texas x peach cv. Earlygold F(2) interspecific cross from which a saturated map was available. Twelve candidate genes were assigned to four linkage groups of the peach genome. In a second step, the previous QTL detection was enhanced by integrating anchor loci between the Ferjalou Jalousia((R)) x Fantasia and Texas x Earlygold maps and data from a third year of trait assessment on the Ferjalou Jalousia((R)) x Fantasia population. Comparative mapping allowed us to detect a candidate gene/QTL co-location. It involved a cDNA encoding a vacuolar H(+)-pyrophosphatase ( PRUpe;Vp2) that energises solute accumulation, and QTLs for sucrose and soluble solid content. This preliminary result may be the first step in the future development of marker-assisted selection for peach fruit sucrose and soluble solid content.

Journal Article↗

Mapping QTLs for sucrose content, yield and quality in a sugar beet population fingerprinted by EST-related markers.

Seventy five expressed sequence tags (ESTs) that are associated with functions in carbohydrate and nitrogen metabolism were genotyped in 108 plants of an F2 population of sugar beet ( Beta vulgaris L.) segregating for sugar quality and yield parameters. Supplemented by known RFLP and AFLP markers, the resulting map spans 446 cM of the 758-Mbp genome of sugar beet. F3 test-cross plants were analysed for corrected sugar yield, beet yield, ion balance and the content of sugar, amino nitrogen, potassium and sodium in six locations. Twenty one significant quantitative trait loci (QTLs) were detected using the composite interval mapping approach. Expressed genes flanking the QTLs were identified in all cases. Correlations between QTLs and potential candidate genes are discussed.

Journal Article↗

Lactuca saligna, a non-host for lettuce downy mildew ( Bremia lactucae), harbors a new race-specific Dm gene and three QTLs for resistance.

Lactuca sativa (lettuce) is susceptible to Bremia lactucae (downy mildew). In cultivated and wild Lactuca species, Dm genes have been identified that confer race-specific resistance. However, these genes were soon rendered ineffective by adaptation of the pathogen. Lactuca saligna (wild lettuce) is resistant to all downy mildew races and can be considered as a non-host. Therefore, L. saligna might be an alternative source for a more-durable resistance to downy mildew in lettuce. In order to analyze this resistance, we have developed an F(2) population based on a resistant L. saligna x susceptible L. sativa cross. This F(2) population was fingerprinted with AFLP markers and tested for resistance to two Bremia races NL14 and NL16. The F(2) population showed a wide and continuous range of resistance levels from completely resistant to completely susceptible. By comparison of disease tests, we observed a quantitative resistance against both Bremia races as well as a race-specific resistance to Bremia race NL16 and not to NL14. QTL mapping revealed a qualitative gene ( R39) involved in the race-specific resistance and three QTLs ( RBQ1, RBQ2 and RBQ3) involved in the quantitative resistance. The qualitative gene R39 is a dominant gene that gives nearly complete resistance to race NL16 in L. saligna CGN 5271 and therefore it showed features similar to Dm genes. The three QTLs explained 51% of the quantitative resistance against NL14, which indicated that probably only the major QTLs have been detected in this F(2) population. The perspectives for breeding for durable resistance are discussed.

Journal Article↗

Mapping QTLs for seed dormancy and the Vp1 homologue on chromosome 3A in wheat.

A major component of the observed genetic variation for pre-harvest sprouting in wheat ( Triticum aestivum L.) appears to be the level of seed dormancy. Group 3 chromosomes have received attention as carrying the R genes for seed-coat color and the taVp1 genes that are orthologous to the maize Vp1 gene which encode a dormancy-related transcription factor. The objectives of the present study were to map quantitative trait loci (QTLs) for seed dormancy on chromosome 3A and to investigate an association between taVp1 or R-A1 and the QTLs detected. A mapping population in the form of recombinant inbred lines developed from the cross between the highly dormant Zenkoujikomugi (Zen) and Chinese Spring (CS) was utilized. Nineteen marker loci, including taVp1, were mapped on chromosome 3A. The taVp1 locus was located in the middle of the long arm, about 85 cM from the centromere. The population was evaluated in duplicate by growing them under controlled environment conditions. Two QTLs for seed dormancy, designated as QPhs.ocs-3A.1 and QPhs.ocs-3A.2, were identified on the short and long arms, respectively. QPhs.ocs-1 explained 23-38% of the phenotypic variation and the Zen allele had a striking effect on maintaining dormancy. QPhs.ocs-2, with a minor effect, was detectable only at the dormancy-breaking stage. Although QPhs.ocs-2 was loosely linked to taVp1 by around 50 cM, they are clearly distinct genes. Zen and CS carry the white R-A1a allele, and no QTL effect was detected in the vicinity region of R-A1. Hence it was concluded that the high dormancy associated with chromosome 3A of Zen is ascribable to QPhs.ocs-1 on the short arm but is not due to the direct contribution of either the taVp1 or R-A1 locus.

Chromosomes, Plant↗

Identification of QTLs influencing agronomic traits in Miscanthus sinensis Anderss. I. Total height, flag-leaf height and stem diameter.

We have developed the first quantitative trait locus (QTL) analyses for agronomic traits in a cross between F(1.1) (P1) and F(1.7) (P7) entries of Miscanthus sinensis Anderss. Both lines are offspring of the cross between MS-90-2 and MS-88-110. A map based on random amplified polymorphic DNA markers previously constructed was used to perform the QTL analyses. This map was developed using a new mapping strategy that has been designated offspring cross. Eleven QTLs were detected for height, panicle height and diameter using the programme mapqtl 4.0 and the multiple QTL method. QTL significance was determined using several analyses, including Kruskal-Wallis analyses, empirical determination of LOD critical values using permutation tests, QTLs validation with field data over 2 years and co-localization of QTLs for correlated traits. The results obtained could be the first step in developing a marker-assisted selection programming in this species for biomass production.

Chromosome Mapping↗

Preliminary investigation of QTLs associated with seedling resistance to ascochyta blight from Cicer echinospermum, a wild relative of chickpea.

Accessions from Cicer echinospermum, a wild relative of chickpea (Cicer arietinum L.), contain resistance to the fungal disease ascochyta blight, a devastating disease of chickpea. A linkage map was constructed based on an interspecific F(2) population, derived from a cross between a susceptible chickpea cultivar (Lasseter) and a resistant C. echinospermum accession (PI 527930). The linkage map incorporated 83 molecular markers, that included RAPD, ISSR, STMS and RGA markers; eight markers remained unlinked. The map comprised eight linkage groups and covered a map distance of 570 cM. Six out of the eight linkage groups were correlated to linkage groups from the integrated Cicer map using STMS markers. Quantitative trait loci (QTLs) associated with ascochyta blight resistance were detected using interval mapping and single-point analysis. The F(2) population was evaluated for seedling and stem resistance in glasshouse trials. At least two QTLs were identified for seedling resistance, both of which were located within linkage group 4. Five markers were associated with stem resistance, four of which were also associated with seedling resistance. QTLs from previous studies also mapped to LG 4, suggesting that this linkage group is an important region of the Cicer genome for resistance to ascochyta blight.

Ascomycota↗