Staff Publications

Staff Publications

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    'Staff publications' is the digital repository of Wageningen University & Research

    'Staff publications' contains references to publications authored by Wageningen University staff from 1976 onward.

    Publications authored by the staff of the Research Institutes are available from 1995 onwards.

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Natural variation in HsfA2 pre-mRNA splicing is associated with changes in thermotolerance during tomato domestication
Hu, Yangjie ; Mesihovic, Anida ; Jiménez-Gómez, José M. ; Röth, Sascha ; Gebhardt, Philipp ; Bublak, Daniela ; Bovy, Arnaud ; Scharf, Klaus Dieter ; Schleiff, Enrico ; Fragkostefanakis, Sotirios - \ 2019
New Phytologist (2019). - ISSN 0028-646X
acclimation - high temperature - polymorphism - pre-mRNA splicing - Solanum - stress response

Wild relatives of crops thrive in habitats where environmental conditions can be restrictive for productivity and survival of cultivated species. The genetic basis of this variability, particularly for tolerance to high temperatures, is not well understood. We examined the capacity of wild and cultivated accessions to acclimate to rapid temperature elevations that cause heat stress (HS). We investigated genotypic variation in thermotolerance of seedlings of wild and cultivated accessions. The contribution of polymorphisms associated with thermotolerance variation was examined regarding alterations in function of the identified gene. We show that tomato germplasm underwent a progressive loss of acclimation to strong temperature elevations. Sensitivity is associated with intronic polymorphisms in the HS transcription factor HsfA2 which affect the splicing efficiency of its pre-mRNA. Intron splicing in wild species results in increased synthesis of isoform HsfA2-II, implicated in the early stress response, at the expense of HsfA2-I which is involved in establishing short-term acclimation and thermotolerance. We propose that the selection for modern HsfA2 haplotypes reduced the ability of cultivated tomatoes to rapidly acclimate to temperature elevations, but enhanced their short-term acclimation capacity. Hence, we provide evidence that alternative splicing has a central role in the definition of plant fitness plasticity to stressful conditions.

Disentangling hexaploid genetics : towards DNA-informed breeding for postharvest performance in chrysanthemum
Geest, Geert van - \ 2017
Wageningen University. Promotor(en): R.G.F. Visser, co-promotor(en): U. van Meeteren; P.F.P. Arens. - Wageningen : Wageningen University - ISBN 9789463436427 - 142
chrysanthemum - plant breeding - postharvest quality - hexaploidy - polyploidy - quantitative trait loci - phenotypes - linkage mapping - metabolomics - polymorphism - dna - chrysanthemum - plantenveredeling - kwaliteit na de oogst - hexaploïdie - polyploïdie - loci voor kwantitatief kenmerk - fenotypen - koppelingskartering - metabolomica - polymorfisme - dna

DNA-informed selection can strongly improve the process of plant breeding. It requires the detection of DNA polymorphisms, calculation of genetic linkage, access to reliable phenotypes and methods to detect genetic loci associated with phenotypic traits of interest. Cultivated chrysanthemum is an outcrossing hexaploid with an unknown mode of inheritance. This complicates the development of resources and methods that enable the detection of trait loci. Postharvest performance is an essential trait in chrysanthemum, but is difficult to measure. This makes it an interesting but challenging trait to phenotype and detect associated genetic loci. In this thesis I describe the development of resources and methods to enable phenotyping for postharvest performance, genetic linkage map construction and detection of quantitative trait loci in hexaploid chrysanthemum.

Postharvest performance is a complicated trait because it is related to many different disorders that reduce quality. One of these disorders in chrysanthemum is disk floret degreening, which occurs after long storage. In chapter 2, we show that degreening can be prevented by feeding the flower heads with sucrose, suggesting carbohydrate starvation plays a role in the degreening process. To investigate the response to carbohydrate starvation of genotypes with different sensitivity to disk floret degreening, we investigated the metabolome of sugar-fed and carbohydrate-starved disk florets by 1H-NMR and HPAEC. We show that the metabolome is severely altered at carbohydrate starvation. In general, starvation results in an upregulation of amino acid and secondary metabolism. Underlying causes of genotypic differences explaining variation in disk floret degreening in the three investigated genotypes remained to be elucidated, but roles of regulation of respiration rate and camphor metabolism were posed as possible candidates.

In chapter 3, disk floret degreening was found to be the most important postharvest disorder after 3 weeks of storage among 44 white chrysanthemum cultivars. To investigate the inheritance of disk floret degreening, we crossed two genotypes with opposite phenotypic values of both disk floret degreening and carbohydrate content to obtain a population segregating for disk floret degreening. To phenotype the cultivar panel and the bi-parental population precisely and in a high throughput manner, we developed a method that quantified colour of detached capitula over time. This method was validated with visual observations of disk floret degreening during vase life tests. In a subset of the bi-parental population we measured carbohydrate content of the disk florets at harvest. The amount of total carbohydrates co-segregated with sensitivity to degreening, which shows that the difference in disk floret degreening sensitivity between the parents could be explained by their difference in carbohydrate content. However, the correlation was rather weak, indicating carbohydrate content is not the only factor playing a role.

In order to develop resources for DNA-informed breeding, one needs to be able to characterize DNA polymorphisms. In chapter 4, we describe the development of a genotyping array containing 183,000 single nucleotide polymorphisms (SNPs). These SNPs were acquired by sequencing the transcriptome of 13 chrysanthemum cultivars. By comparing the genomic dosage based on the SNP assay and the dosage as estimated by the read depth from the transcriptome sequencing data, we show that alleles are expressed conform the genomic dosage, which contradicts to what is often found in disomic polyploids. In line with this finding, we conclusively show that cultivated chrysanthemum exhibits genome-wide hexasomic inheritance, based on the segregation ratios of large numbers of different types of markers in two different populations.

Tools for genetic analysis in diploids are widely available, but these have limited use for polyploids. In chapter 5, we present a modular software package that enables genetic linkage map construction in tetraploids and hexaploids. Because of the modularity, functionality for other ploidy levels can be easily added. The software is written in the programming language R and we named it polymapR. It can generate genetic linkage maps from marker dosage scores in an F1 population, while taking the following steps: data inspection and filtering, linkage analysis, linkage group assignment and marker ordering. It is the first software package that can handle polysomic hexaploid and partial polysomic tetraploid data, and has advantages over other polyploid mapping software because of its scalability and cross-platform applicability.

With the marker dosage scores of the bi-parental F1 population from the genotyping array and the developed methods to perform linkage analysis we constructed an integrated genetic linkage map for the hexaploid bi-parental population described in chapter 3 and 4. We describe this process in chapter 6. With this integrated linkage map, we reconstructed the inheritance of parental haplotypes for each individual, and expressed this as identity-by-descent (IBD) probabilities. The phenotypic data on disk floret degreening sensitivity that was acquired as described in chapter 3, was used in addition to three other traits to detect quantitative trait loci (QTL). These QTL were detected based on the IBD probabilities of 1 centiMorgan intervals of each parental homologue. This enabled us to study genetic architecture by estimating the effects of each separate allele within a QTL on the trait. We showed that for many QTL the trait was affected by more than two alleles.

In chapter 7, the findings in this thesis are discussed in the context of breeding for heterogeneous traits, the implications of the mode of inheritance for breeding and the advantages and disadvantages of polyploidy in crop breeding. In conclusion, this thesis provides in general a significant step for DNA-informed breeding in polysomic hexaploids, and for postharvest performance in chrysanthemum in particular.

Milk fat triacyglycerols : their variabiblity, relations with fatty acids, DGAT1, B polymorphs and melting fractions
Tzompa Sosa, D.A. - \ 2016
Wageningen University. Promotor(en): Toon van Hooijdonk, co-promotor(en): Hein van Valenberg; G.A. van Aken. - Wageningen : Wageningen University - ISBN 9789462577503 - 122
milk fat - triacylglycerols - fatty acids - composition - polymorphism - dairy cows - cows - crystallization - fat crystallization - melting - calorimetry - maldi-tof - thin layer chromatography - melkvet - triacylglycerolen - vetzuren - samenstelling - polymorfisme - melkkoeien - koeien - kristallisatie - vetkristallisatie - smelten - calorimetrie - maldi-tof - dunnelaagchromatografie

Milk fat (MF) triacylglycerol composition varies within a population of dairy cows. The variability of MF triacylglycerols and their structure was partially explained by the fatty acid (FA) composition of the MF, and by DGAT1 K232A polymorphism. The FA C16:0 and C18:1cis-9 play a major role in understanding the changes seen in triacylglycerol profile and structure because they are the most abundant FAs in MF and are negatively correlated. MFs with low ratio C16:0/C18:1cis-9 were decreased in triacylglycerols with 34 and 36 carbons and were increased in triacylglycerols with 52 and 54 carbons. These changes in MF composition greatly affected the crystallization behavior of MF by changing the types of polymorphs formed during its crystallization. MF with low ratio C16:0/C18:1cis-9 formed stable and metastable polymorphs (β and β’, respectively), whereas MF with high ratio C16:0/C18:1cis-9 formed exclusively metastable polymorphs (β’) when the fat was crystallized at 20°C. The changes in MF composition also affected the melting behavior of MF by changing the melting point of the MF fractions.

Distinct bhaplotype structure at the innate immune receptor Toll-like receptor 2 across bank vole populations and lineages in Europe
Morger, Jennifer, J. ; Raberg, Lars, L. ; Hille, Sabine, S. ; Brink, N.W. van den - \ 2015
Biological Journal of the Linnean Society 116 (2015)1. - ISSN 0024-4066 - p. 124 - 133.
major histocompatibility complex - positive darwinian selection - balancing selection - clethrionomys-glareolus - contrasting patterns - genetic-variation - northern spain - small mammals - mhc - polymorphism
Parasite-mediated selection may contribute to the maintenance of genetic variation at host immune genes over long time scales. To date, the best evidence for the long-term maintenance of immunogenetic variation in natural populations comes from studies on the major histocompatibility complex (MHC) genes, whereas evidence for such processes from other immune genes remains scarce. In the present study, we show that, despite pronounced population differentiation and the occurrence of numerous private alleles within populations, the innate immune gene Toll-like receptor 2 (TLR2) displays a distinct haplotype structure in 21 bank vole (Myodes glareolus) populations across Europe. Haplotypes from all populations grouped in four clearly differentiated clusters, with the three main clusters co-occurring in at least three previously described mitochondrial lineages. This pattern indicates that the distinct TLR2 haplotype structure may precede the split of the mitochondrial lineages 0.19–0.56 Mya and suggests that haplotype clusters at this innate immune receptor are maintained over prolonged time in wild bank vole populations
The butterfly plant arms-race escalated by gene and genome duplications
Edger, P.P. ; Heidel-Fischer, H.M. ; Bekaert, K.M. ; Rota, J. ; Glockner, G. ; Platts, A.E. ; Heckel, D.G. ; Der, J.P. ; Wafula, E.K. ; Tang, M. ; Hofberger, J.A. ; Smithson, A. ; Hall, J.C. ; Blanchette, M. ; Bureau, T.E. ; Wright, S.I. ; dePamphilis, C.W. ; Schranz, M.E. ; Conant, G.C. ; Barker, M.S. ; Wahlberg, N. ; Vogel, H. ; Pires, J.C. ; Wheat, C.W. - \ 2015
Proceedings of the National Academy of Sciences of the United States of America 112 (2015)27. - ISSN 0027-8424 - p. 8362 - 8366.
evolutionaire genetica - co-evolutie - diversificatie - brassica - pieridae - papilionidae - glucosinolaten - fylogenie - evolutionary genetics - coevolution - diversification - brassica - pieridae - papilionidae - glucosinolates - phylogeny - diversity - defense - cytochrome-p450 - polymorphism - arabidopsis - metabolism - expression - speciation
Coevolutionary interactions are thought to have spurred the evolution of key innovations and driven the diversification of much of life on Earth. However, the genetic and evolutionary basis of the innovations that facilitate such interactions remains poorly understood. We examined the coevolutionary interactions between plants (Brassicales) and butterflies (Pieridae), and uncovered evidence for an escalating evolutionary arms-race. Although gradual changes in trait complexity appear to have been facilitated by allelic turnover, key innovations are associated with gene and genome duplications. Furthermore, we show that the origins of both chemical defenses and of molecular counter adaptations were associated with shifts in diversification rates during the arms-race. These findings provide an important connection between the origins of biodiversity, coevolution, and the role of gene and genome duplications as a substrate for novel traits.
Remarkably divergent regions punctuate the genome assembly of the Caenorhabditis elegans Hawaiian strain CB4856
Thompson, O.A. ; Snoek, L.B. ; Nijveen, H. ; Sterken, M.G. ; Volkers, R.J.M. ; Brenchley, R. ; Hof, A. van 't; Bevers, R.P.J. ; Cossins, A.R. ; Yanai, I. ; Hajnal, A. ; Schmid, T. ; Perkins, J.D. ; Spencer, D. ; Kruglyak, L. ; Andersen, E.C. ; Moerman, D.G. ; Hillier, L.W. ; Kammenga, J.E. ; Waterston, R.H. - \ 2015
Genetics 200 (2015)3. - ISSN 0016-6731 - p. 975 - 989.
natural variation data - c. elegans - arabidopsis-thaliana - gene - polymorphism - populations - diversity - nematodes - dna - evolutionary
The Hawaiian strain (CB4856) of Caenorhabditis elegans is one of the most divergent from the canonical laboratory strain N2 and has been widely used in developmental, population and evolutionary studies. To enhance the utility of the strain, we have generated a draft sequence of the CB4856 genome, exploiting a variety of resources and strategies. The CB4856 genome when compared against the N2 reference has 327,050 single nucleotide variants (SNVs) and 79,529 insertion-deletion events (indels) that result in a total of 3.3 megabasepairs (Mb) of N2 sequence missing from CB4856 and 1.4 Mb of sequence present in CB4856 not present in N2. As previously reported, the density of SNVs varies along the chromosomes, with the arms of chromosomes showing greater average variation than the centers. In addition, we find 61 regions totaling 2.8 Mb, distributed across all six chromosomes, that have a greatly elevated SNV density, ranging from 2% to 16% SNVs. A survey of other wild isolates show that the two alternative haplotypes for each region are widely distributed, suggesting they have been maintained by balancing selection over long evolutionary times. These divergent regions contain an abundance of genes from large rapidly evolving families encoding F-box, MATH, BATH, seven-transmembrane G-coupled receptors, and nuclear hormone receptors suggesting that they provide selective advantages in natural environments. The draft sequence makes available a comprehensive catalog of sequence differences between the CB4856 and N2 strains that will facilitate the molecular dissection of their phenotypic differences. Our work also emphasizes the importance of going beyond simple alignment of reads to a reference genome when assessing differences between genomes.
Phosphorylation of as1-casein is regulated by different genes
Bijl, E. ; Valenberg, H.J.F. van; Huppertz, T. ; Hooijdonk, A.C.M. van; Bovenhuis, H. - \ 2014
Journal of Dairy Science 97 (2014)11. - ISSN 0022-0302 - p. 7240 - 7246.
milk protein-composition - mammary-gland - dairy-cattle - casein kinase - bovine-milk - association - dgat1 - polymorphism - specificity - cows
Casein phosphorylation is a posttranslational modification catalyzed by kinase enzymes that attach phosphate groups to specific AA in the protein sequence. This modification is one of the key factors responsible for the stabilization of calcium phosphate nanoclusters in casein micelles and for the internal structure of the casein micelles. aS1-Casein (as1-CN) is of special interest because it constitutes up to 40% of the total casein fraction in milk, and it has 2 common phosphorylation states, with 8 (aS1-CN-8P) and 9 (aS1-CN-9P) phosphorylated serine residues. Factors affecting this variation in the degree of phosphorylation are not currently known. The objective of this research was to determine the genetic background of aS1-CN-8P and aS1-CN-9P. The genetic and phenotypic correlation between aS1-CN-8P and aS1-CN-9P was low (0.18 and 0.19, respectively). This low genetic correlation suggests a different genetic background. These differences were further investigated by means of a genome-wide association study, which showed that both aS1-CN-8P and aS1-CN-9P were affected by a region on Bos taurus autosome (BTA) 6, but only aS1-CN-8P was affected by a region on BTA11 that contains the gene that encodes for ß-lactoglobulin (ß-LG), and only aS1-CN-9P was affected by a region on BTA14 that contains the diacylglycerol acyltransferase 1 (DGAT1) gene. Estimated effects of ß-LG protein genotypes showed that only aS1-CN-8P was associated with the ß-LG A/B polymorphism (g.1772G>A and g.3054C>T); the AA genotype of ß-LG was associated with a lower concentration of aS1-CN-8P (-0.32% wt/wt) than the BB genotype (+0.41% wt/wt). Estimated effects of DGAT1 K232A genotypes showed that only aS1-CN-9P was associated with the DGAT1 gene polymorphism; DGAT1 AA genotype was associated with a higher aS1-CN-9P concentration (+0.53% wt/wt) than the DGAT1 KK genotype (-0.44% wt/wt). The results give insight in phosphorylation of aS1-CN-8P and aS1-CN-9P, which seem to be regulated by a different set of genes.
Factors influencing casein micelle size in milk of individual cows: Genetic variants and glycosylation of k-casein
Bijl, E. ; Vries, R.F.M. de; Valenberg, H.J.F. van; Huppertz, T. ; Hooijdonk, A.C.M. van - \ 2014
International Dairy Journal 34 (2014)1. - ISSN 0958-6946 - p. 135 - 141.
protein-composition - bovine-milk - liquid-chromatography - electrophoresis - polymorphism - coagulation - genotypes - pattern - cattle
The average casein micelle size varies widely between milk samples of individual cows. The factors that cause this variation in size are not known but could provide more insight into casein micelle structure and into the physiology of casein micelle formation. The objective of this research was therefore to determine factors that influence average casein micelle size in milk from individual cows. Average casein micelle size of milk samples was associated with the A and B genetic variants of k-casein, and differences in concentration of glycosylated k-casein as a fraction of total milk protein. Milk samples with a low average casein micelle size were associated with the B variant of k-casein and a higher relative concentration of glycosylated k-casein, compared with milk samples with a high average casein micelle size. Differences observed may be attributed to the effect of glycosylated k-casein groups on casein micelle formation in the mammary gland.
MC1R Genotype and Plumage Colouration in the Zebra Finch (Taeniopygia guttata): Population Structure Generates Artefactual Associations
Hoffman, J.L. ; Krause, E.T. ; Lehmann, K. ; Krüger, O. - \ 2014
PLoS ONE 9 (2014)1. - ISSN 1932-6203 - 9 p.
genetic-basis - receptor gene - birds - polymorphism - evolution - mice - wild - ornaments - loci
Polymorphisms at the melanocortin-1 receptor (MC1R) gene have been linked to coloration in many vertebrate species. However, the potentially confounding influence of population structure has rarely been controlled for. We explored the role of the MC1R in a model avian system by sequencing the coding region in 162 zebra finches comprising 79 wild type and 83 white individuals from five stocks. Allelic counts differed significantly between the two plumage morphs at multiple segregating sites, but these were mostly synonymous. To provide a control, the birds were genotyped at eight microsatellites and subjected to Bayesian cluster analysis, revealing two distinct groups. We therefore crossed wild type with white individuals and backcrossed the F1s with white birds. No significant associations were detected in the resulting offspring, suggesting that our original findings were a byproduct of genome-wide divergence. Our results are consistent with a previous study that found no association between MC1R polymorphism and plumage coloration in leaf warblers. They also contribute towards a growing body of evidence suggesting that care should be taken to quantify, and where necessary control for, population structure in association studies.
WormQTL HD—a web database for linking human disease to natural variation data in C. elegans
Velde, K.J. van der; Haan, M. de; Zych, K. ; Arends, D. ; Snoek, L.B. ; Kammenga, J.E. ; Jansen, R.C. ; Swertz, M.A. ; Li, Y. - \ 2014
Nucleic acids research 42 (2014)D1. - ISSN 0305-1048 - p. D794 - D801.
life-history traits - caenorhabditis-elegans - systems biology - stress-response - genotype - genome - qtl - environment - identification - polymorphism
Interactions between proteins are highly conserved across species. As a result, the molecular basis of multiple diseases affecting humans can be studied in model organisms that offer many alternative experimental opportunities. One such organism— Caenorhabditis elegans—has been used to produce much molecular quantitative genetics and systems biology data over the past decade. We present WormQTLHD (Human Disease), a database that quantitatively and systematically links expression Quantitative Trait Loci (eQTL) findings in C. elegans to gene–disease associations in man. WormQTLHD, available online at, is a user-friendly set of tools to reveal functionally coherent, evolutionary conserved gene networks. These can be used to predict novel gene-to-gene associations and the functions of genes underlying the disease of interest. We created a new database that links C. elegans eQTL data sets to human diseases (34 337 gene–disease associations from OMIM, DGA, GWAS Central and NHGRI GWAS Catalogue) based on overlapping sets of orthologous genes associated to phenotypes in these two species. We utilized QTL results, high-throughput molecular phenotypes, classical phenotypes and genotype data covering different developmental stages and environments from WormQTL database. All software is available as open source, built on MOLGENIS and xQTL workbench.
Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease
Meurs, J.B.J. van; Pare, G. ; Schwartz, S.M. ; Hazra, A. ; Tanaka, T. ; Vermeulen, S.H. ; Cotlarciuc, I. ; Yuan, X. ; Malarstig, A. ; Bandinelli, S. ; Bis, J.C. ; Morn, H. ; Brown, M.J. ; Chen, C. ; Chen, Y.D. ; Clarke, R.J. ; Dehghan, A. ; Erdmann, J. ; Ferrucci, L. ; Hamsten, A. ; Hofman, A. ; Hunten, D.J. ; Goel, A. ; Johnson, A.D. ; Kathiresan, S. ; Kampman, E. ; Kiel, D.P. ; Kiemeney, L.A. ; Chambers, J.C. ; Kraft, P. ; Lindemans, J. ; McKnight, B. ; Nelson, C.P. ; O'Donnell, C.J. ; Psaty, B.M. ; Ridken, P.M. ; Rivadeneira, F. ; Rose, L.M. ; Seedoif, U. ; Siscovick, D.S. ; Schunkert, H. ; Selhub, J. ; Ueland, P.M. ; Vollenweiden, P. ; Waeben, G. ; Waterworth, D.M. ; Watkins, H. ; Witteman, J.C.M. ; Heijen, M. den; Jacques, P. ; Uitterlinden, A.G. ; Koonet, J.S. ; Rader, D.J. ; Reilly, M.P. ; Moose, V. ; Chasman, D.I. ; Samani, N.J. ; Ahmadi, K.R. - \ 2013
American Journal of Clinical Nutrition 98 (2013)3. - ISSN 0002-9165 - p. 668 - 676.
genome-wide association - cardiovascular-disease - mendelian randomization - heart-disease - expression - metaanalysis - mthfr - polymorphism - women - identification
Background: The strong observational association between total homocysteine (tHcy) concentrations and risk of coronary artery disease (CAD) and the null associations in the homocysteinelowering trials have prompted the need to identify genetic variants associated with homocysteine concentrations and risk of CAD. Objective: We tested whether common genetic polymorphisms associated with variation in tlicy are also associated with CAD. Design: We conducted a meta-analysis of genome-wide association studies (GWAS) on tHcy concentrations in 44,147 individuals of European descent. Polymolphisms associated with tHcy (P <10(-8)) were tested for association with CAD in 31,400 cases and 92,927 controls. Results: Common variants at 13 loci, explaining 5.9% of the variation in tHcy, were associated with tHcy concentrations, including 6 novel loci in or near MMACHC (2.1 X 10(-9)), SLC17A3 (1.0 x 10(-8)), GTPB10 (1.7 X 10(-8)), CUBN (7.5 X 10(-1)), HNFlA (1.2 x 10(-12)), and FUT2 (6.6 x 10(-9)), and variants previously reported at or near the MTHFR, MTR, CPS1, MUT, NOX4, DPEP1, and CBS genes. Individuals within the highest 10% of the genotype risk score (GRS) had 3-gmol/L higher mean tHcy concentrations than did those within the lowest 10% of the GRS (P = 1 X 10(-36)). The GRS was not associated with risk of CAD (OR: 1.01; 95% CI: 0.98, 1.04; P = 0.49). Conclusions: We identified several novel loci that influence plasma tHcy concentrations. Overall, common genetic variants that influence plasma tHcy concentrations are not associated with risk of CAD in white populations, which further refutes the causal relevance of moderately elevated tHey concentrations and tHcy-related pathways for CAD.
Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution dwarf alleles in rice and barley
Barboza, L. ; Effgen, S. ; Alonso-Blanco, C. ; Kooke, R. ; Keurentjes, J.J.B. ; Koornneef, M. - \ 2013
Proceedings of the National Academy of Sciences of the United States of America 110 (2013)39. - ISSN 0027-8424 - p. 15818 - 15823.
quantitative trait loci - gibberellin biosynthesis - natural variation - thaliana - gene - populations - model - polymorphism - association - adaptation
Understanding the genetic bases of natural variation for developmental and stress-related traits is a major goal of current plant biology. Variation in plant hormone levels and signaling might underlie such phenotypic variation occurring even within the same species. Here we report the genetic and molecular basis of semidwarf individuals found in natural Arabidopsis thaliana populations. Allelism tests demonstrate that independent loss-offunction mutations at GA locus 5 (GA5), which encodes gibberellin 20-oxidase 1 (GA20ox1) involved in the last steps of gibberellin biosynthesis, are found in different populations from southern, western, and northern Europe; central Asia; and Japan. Sequencing of GA5 identified 21 different loss-of-function alleles causing semidwarfness without any obvious general tradeoff affecting plant performance traits. GA5 shows signatures of purifying selection, whereas GA5 loss-of-function alleles can also exhibit patterns of positive selection in specific populations as shown by Fay and Wu’s H statistics. These results suggest that antagonistic pleiotropy might underlie the occurrence of GA5 loss-of-function mutations in nature. Furthermore, because GA5 is the ortholog of rice SD1 and barley Sdw1/Denso green revolution genes, this study illustrates the occurrence of conserved adaptive evolution between wild A.thaliana and domesticated plants
Footprints of selection in wild populations of Bicyclus anynana along a latitudinal cline
Jong, M.A. de; Collins, S. ; Beldade, P. ; Brakefield, P.M. ; Zwaan, B.J. - \ 2013
Molecular Ecology 22 (2013)2. - ISSN 0962-1083 - p. 341 - 353.
drosophila-melanogaster - eastern australia - life-history - genetic responses - stress resistance - wing pattern - evolution - polymorphism - divergence - adaptation
One of the major questions in ecology and evolutionary biology is how variation in the genome enables species to adapt to divergent environments. Here, we study footprints of thermal selection in candidate genes in six wild populations of the afrotropical butterfly Bicyclus anynana sampled along a c. 3000 km latitudinal cline. We sequenced coding regions of 31 selected genes with known functions in metabolism, pigment production, development and heat shock responses. These include genes for which we expect a priori a role in thermal adaptation and, thus, varying selection pressures along a latitudinal cline, and genes we do not expect to vary clinally and can be used as controls. We identified amino acid substitution polymorphisms in 13 genes and tested these for clinal variation by correlation analysis of allele frequencies with latitude. In addition, we used two FST-based outlier methods to identify loci with higher population differentiation than expected under neutral evolution, while accounting for potentially confounding effects of population structure and demographic history. Two metabolic enzymes of the glycolytic pathway, UGP and Treh, showed clinal variation. The same loci showed elevated population differentiation and were identified as significant outliers. We found no evidence of clines in the pigmentation genes, heat shock proteins and developmental genes. However, we identified outlier loci in more localized parts of the range in the pigmentation genes yellow and black. We discuss that the observed clinal variation and elevated population divergence in UGP and Treh may reflect adaptation to a geographic thermal gradient.
Haptoglobin phenotype prevalence and cytokine profiles during plasmodium falciparum infection in Dogon and Fulani ethnic groups living in Mali
Perdijk, O. ; Arama, C. ; Giusti, P. ; Maiga, B. ; Troye-Blomberg, M. ; Dolo, A. ; Doumbo, O. ; Persson, J.O. ; Bostrom, S. - \ 2013
Malaria Journal 12 (2013). - ISSN 1475-2875
hemoglobin scavenger receptor - severe malaria - soluble cd163 - west-africa - children - susceptibility - polymorphism - association - genotypes - ahaptoglobinemia
Background The Fulani are known to have a lower parasitaemia and less clinical episodes of malaria as compared to the Dogon sympatric ethnic group, living in Mali. Higher circulating malaria-specific antibody titers and increased pro-inflammatory cytokine levels have been shown in Fulani individuals. Several studies have tried to link haptoglobin (Hp) phenotypes with susceptibility to malaria, but without consensus. This study investigated the role of Hp phenotypes and cytokine levels in Dogon and Fulani during asymptomatic Plasmodium falciparum infection. Methods Two different cohorts were combined in this study: a 2008 cohort with 77 children aged between two and ten years and a 2001 cohort, with 82 children and adults, aged between 11 and 68 years. Hp phenotypes in plasma were measured by Western Blot. Circulating levels of sCD163, IL-6, IL-10, IFN-¿ and TNF were measured by ELISA. Multiple regression analysis was performed to associate Hp phenotypes with cytokine profiles. In addition, in vitro stimulation of peripheral blood mononuclear cells (PBMCs) with Hp:Hb complexes was performed and cytokine release in corresponding supernatants were measured using cytometric bead array. Results The results revealed a higher Hp2-2 phenotype prevalence in the Fulani. The Hp2-2 phenotype was associated with a higher susceptibility to P. falciparum infection in Dogon, but not in Fulani. In concordance with previous studies, Fulani showed increased inflammatory mediators (IL-6, IFN-¿) and additionally also increased sCD163 levels compared to Dogon, irrespective of infection. Furthermore, infected individuals showed elevated sCD163 levels compared to uninfected individuals, in both Fulani and Dogon. Multiple regression analysis revealed that the Hp1-1 phenotype was associated with higher levels of TNF and IFN-¿, as compared to the Hp2-2 phenotype. In vitro stimulation of PBMCs with Hb:Hp1-1 complexes resulted in a pro-inflammatory cytokine profile, whilst stimulation with Hb:Hp2-2 complexes showed a more balanced profile. Conclusions Ethnicity might be an important confounder on the Hp phenotype-dependent susceptibility to malaria and future studies could consider taking this into account when designing new immunological studies. Although, the relatively small sample size used in this study warrens for precautions in the interpretation of the data and these findings should ideally be validated in a bigger cohort.
Genomic analysis of the native European Solanum species, S. dulcamara
Agostino, N.D. ; Golas, T. ; Geest, H. van; Bombarely, A. ; Dawood, T. ; Zethof, J. ; Driedonks, N. ; Wijnker, T.G. ; Bargsten, J. ; Nap, J.P. ; Mariani, C. ; Rieu, I. - \ 2013
BMC Genomics 14 (2013). - ISSN 1471-2164 - 14 p.
phytophthora-infestans - solanaceae - identification - evolution - polymorphism - sequence - tomato - potato - genes
Background - Solanum dulcamara (bittersweet, climbing nightshade) is one of the few species of the Solanaceae family native to Europe. As a common weed it is adapted to a wide range of ecological niches and it has long been recognized as one of the alternative hosts for pathogens and pests responsible for many important diseases in potato, such as Phytophthora. At the same time, it may represent an alternative source of resistance genes against these diseases. Despite its unique ecology and potential as a genetic resource, genomic research tools are lacking for S. dulcamara. We have taken advantage of next-generation sequencing to speed up research on and use of this non-model species. Results - In this work, we present the first large-scale characterization of the S. dulcamara transcriptome. Through comparison of RNAseq reads from two different accessions, we were able to predict transcript-based SNP and SSR markers. Using the SNP markers in combination with genomic AFLP and CAPS markers, the first genome-wide genetic linkage map of bittersweet was generated. Based on gene orthology, the markers were anchored to the genome of related Solanum species (tomato, potato and eggplant), revealing both conserved and novel chromosomal rearrangements. This allowed a better estimation of the evolutionary moment of rearrangements in a number of cases and showed that chromosomal breakpoints are regularly re-used. Conclusion - Knowledge and tools developed as part of this study pave the way for future genomic research and exploitation of this wild Solanum species. The transcriptome assembly represents a resource for functional analysis of genes underlying interesting biological and agronomical traits and, in the absence of the full genome, provides a reference for RNAseq gene expression profiling aimed at understanding the unique biology of S. dulcamara. Cross-species orthology-based marker selection is shown to be a powerful tool to quickly generate a comparative genetic map, which may speed up gene mapping and contribute to the understanding of genome evolution within the Solanaceae family.
Variation at phenological candidate genes correlates with timing of dispersal and plumage morph in a sedentary bird of prey
Chakarov, N. ; Jonker, R.M. ; Boerner, M. ; Hoffman, J.I. ; Kruger, O. - \ 2013
Molecular Ecology 22 (2013)21. - ISSN 0962-1083 - p. 5430 - 5440.
circannual rhythms - blue tits - reproductive success - individual variation - latitudinal cline - circadian clock - behavior - polymorphism - population - migration
Polymorphic genes involved in the conserved molecular signalling of circadian and circannual clocks may play important roles in governing the timing of breeding and dispersal and thereby affect fitness in vertebrates. However, relatively few studies have explored associations between phenological candidate genes and behaviour, and these are somewhat biased towards particular taxonomic groups such as passerine birds and salmonid fish. Consequently, we assayed microsatellite polymorphisms within the exonic and 3' untranslated regions of the regulatory genes CLOCK, NPAS2, ADCYAP1 and CREB1 in the common buzzard (Buteo buteo), a polymorphic raptor species with three plumage morphs that differ in key life history traits including lifetime reproductive success. In contrast to studies of passerines, CLOCK poly-glutamine (poly-Q) was found to be monomorphic in 976 common buzzard nestlings as well as in three other Buteo species. Moreover, none of the candidate genes were significantly associated with fledging dates, although intermediately melanized females were found to lay earlier on average than light or dark morph individuals, and their offspring carried longer ADCYAP1 alleles. In contrast, all three candidate genes explained significant variation in one or more measures of juvenile buzzard dispersal (resighting probability, timing of dispersal and distance dispersed). Our findings contribute towards a broader body of work on the adaptive significance of CLOCK polymorphism, while also building upon previous studies that have documented links between ADCYAP1 variability and the timing of migration.
Differences in milk fat composition predicted by mid-infrared spectrometry among dairy cattle breeds in the Netherlands
Maurice - Van Eijndhoven, M.H.T. ; Bovenhuis, H. ; Soyeurt, H. ; Calus, M.P.L. - \ 2013
Journal of Dairy Science 96 (2013)4. - ISSN 0022-0302 - p. 2570 - 2582.
conjugated linoleic-acid - bovine-milk - genetic-parameters - production traits - short-communication - italian holsteins - desaturase gene - jersey cows - dgat1 gene - polymorphism
The aim of this study was to estimate breed differences in milk fatty acid (FA) profile among 5 dairy cattle breeds present in the Netherlands: Holstein-Friesian (HF), Meuse-Rhine-Yssel (MRY), Dutch Friesian (DF), Groningen White Headed (GWH), and Jersey (JER). For this purpose, total fat percentage and detailed FA contents in milk (14 individual FA and 14 groups of FA) predicted from mid-infrared spectra were used. Mid-infrared spectrometry profiles were collected during regular milk recording from a range of herds with different combinations of breeds, including both purebred and crossbred cows. The data set used for the analyses contained 41,404 records from a total of 24,445 cows. In total 7,626 cows were crossbreds belonging to the breeds HF, MRY, DF, GWH, and JER; 1,769 purebreds (=87.5%) belonging to the breeds MRY, DF, GWH, and JER; and the other 15,050 cows were HF. Breed effects were estimated using a single-trait animal model. The content in milk of short-chain FA C4:0, C6:0, C8:0, C10:0, C12:0, C14:0, and C16:0 was higher for JER and the content in milk of C16:0 was lower for GWH compared with the other breeds; when adjusting for breed differences in fat percentage, however, not all breed differences were significant. Breed differences were also found for cis-9 C14:1, cis-9 C16:1, C18:0, and a number of C18 unsaturated FA. In general, differences in fat composition in milk between HF, MRY, and DF were not significant. Jerseys tended to produce more saturated FA, whereas GWH tended to produce relatively less saturated FA. After adjusting for differences in fat percentage, breed differences in detailed fat composition disappeared or became smaller for several short- and medium-chain FA, whereas for several long-chain unsaturated FA, more significant breed differences were found. This indicates that short- and medium-chain FA are for all breeds more related to total fat percentage than long-chain FA. In conclusion, between breed differences were found in detailed FA composition and content of individual FA. Especially, for FA produced through de novo synthesis (short-chain FA, C12:0, C14:0, and partly C16:0) differences were found for JER and GWH, compared with the breeds HF, MRY, and DF
Characterization of low-molecular-weight-glutenin subunit genes from the D-genome of Triticum aestivum, Aegilops crassa, Ae. cylindrica and Ae. tauschii
Naghavi, M.R. ; Ahmadi, S. ; Shanejat-Boushehri, A.A. ; Komaei, G. ; Struik, P.C. - \ 2013
Biochemical Systematics and Ecology 50 (2013). - ISSN 0305-1978 - p. 23 - 29.
endosperm storage proteins - group-1 chromosomes - wheat endosperm - hexaploid wheat - common wheat - cloning - pcr - electrophoresis - identification - polymorphism
Twenty low-molecular-weight-glutenin subunit (LMW-GS) gene sequences from the D-genome from Aegilops crassa (2n ¼ 4x ¼ 28), Ae. cylindrica (2n ¼ 4x ¼ 28), Ae. tauschii (2n ¼ 2x ¼ 14) and Triticum aestivum (2n ¼ 6x ¼ 42) were obtained using five sets of specific allele primer pairs. Only the sequences of the first primer pair were complete coding sequences (cds) of LMW-GS, and had 305, 304, 306 and 305 LMW-m amino acid residues in Ae. crassa, Ae. cylindrica, Ae. tauschii and T. aestivum, respectively. The repetitive domain and repeat motif numbers of all LMW glutenin subunits showed eight conserved cysteine residues that lead to the same functional activity in different genome. Based on DNA and predicted protein sequences, phylogenetic trees for all sets of sequences were drawn. At the DNA level, the species closest to T. aestivum for the second, third, fourth and fifth set of sequences were Ae. cylindrica, Ae. tauschii and Ae. crassa, respectively. At the protein level, the species closest to T. aestivum based on the first, second and fifth set of sequences were Ae. cylindrica, Ae. crassa and Ae. crassa, respectively. For other sets of sequences, bread wheat proved to be a distinct species. The LMW-GS gene sequences have been recorded in the GenBank with accession numbers JQ726549–JQ726568.
WormQTL—public archive and analysis web portal for natural variation data in Caenorhabditis spp
Snoek, L.B. ; Velde, K.J. van der; Arends, D. ; Li, Y. ; Beyer, A. ; Elvin, M. ; Fisher, J. ; Hajnal, A. ; Hengartner, M. ; Poulin, G. ; Rodriguez Sanchez, M. ; Schmid, T. ; Schrimpf, S. ; Xue, F. ; Jansen, R.C. ; Kammenga, J.E. ; Swertz, M.A. - \ 2013
Nucleic acids research 41 (2013)D1. - ISSN 0305-1048 - p. D738 - D743.
life-history traits - c. elegans - systems biology - qtl - polymorphism - genotype - environment - plasticity - platform - genome
Here, we present WormQTL (, an easily accessible database enabling search, comparative analysis and meta-analysis of all data on variation in Caenorhabditis spp. Over the past decade, Caenorhabditis elegans has become instrumental for molecular quantitative genetics and the systems biology of natural variation. These efforts have resulted in a valuable amount of phenotypic, high-throughput molecular and genotypic data across different developmental worm stages and environments in hundreds of C. elegans strains. WormQTL provides a workbench of analysis tools for genotype–phenotype linkage and association mapping based on but not limited to R/qtl ( All data can be uploaded and downloaded using simple delimited text or Excel formats and are accessible via a public web user interface for biologists and R statistic and web service interfaces for bioinformaticians, based on open source MOLGENIS and xQTL workbench software. WormQTL welcomes data submissions from other worm researchers.
Analysis of genetic diversity in farmers' rice varieties in Sierra Leone using morphological and AFLP markers
Chakanda, R.T.M. ; Treuren, R. van; Visser, L. ; Berg, R.G. van den - \ 2013
Genetic Resources and Crop Evolution 60 (2013)4. - ISSN 0925-9864 - p. 1237 - 1250.
millet pennisetum-glaucum - oryza-sativa - west-africa - dna - polymorphism - cultivation - glaberrima - management - origin - gambia
The objective of the current research was to investigate the status of rice genetic resources in post-war Sierra Leone using both morphological and amplified fragment length polymorphism (AFLP) data. Specifically, we aimed at investigating farmers’ rice genetic resources for homogeneity and differentiation, and at examining the genetic identity of similarly named varieties, including varieties within Sierra Leone, and between Sierra Leone and Guinea. This research was also motivated by the assumption that genetic erosion might have occurred as a result of the civil war. To determine the level of diversity and genetic relationships among farmers’ varieties of rice recently collected in Sierra Leone, two methods were used using subsets of the collected samples: (1) Using morphological data, 74 samples of 29 different varieties were analysed to investigate the relationship between (a) varieties grown in two districts in Sierra Leone, and (b) the two main cultivated species, Oryza sativa and Oryza glaberrima. A dendrogram largely clustered the varieties according to region and to the species to which the varieties belonged. (2) Using AFLP data, three separate investigations were conducted: (a) 33 samples of 10 varieties were investigated to evaluate diversity within and between varieties. The results indicated that the rice varieties possess different levels of intra-variety variation, whereas inter-variety diversity was high enough to distinguish one variety from the other. In particular, an AMOVA analysis revealed that 38 % of the total variation occurred within varieties, and 62 % between varieties. (b) 37 samples of 18 different varieties were investigated to determine the consistency of naming of varieties by farmers. The results showed that there was consistency in the naming by farmers of traditional varieties, but inconsistency in the naming of newly acquired varieties and cultivars. (c) 12 samples were investigated to check the identity of varieties carrying identical names collected in two separate regions, Sierra Leone and the neighbouring country of Guinea. The results indicated no close genetic relationships between the varieties found in Sierra Leone and Guinea despite similarities in the names given to these varieties by farmers, indicating the influence of different cultivation practices in the two countries.
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