scholarly journals Identification of novel genetic regions associated with resistance to European canker in apple

2021 ◽  
Author(s):  
Amanda Karlstr&oumlm ◽  
Antonio G&oacutemez-Cortecero ◽  
Charlotte F Nellist ◽  
Matthew Ordidge ◽  
Jim M Dunwell ◽  
...  

Resistance to Neonectria ditissima, the fungus causing European canker in apple, was studied in a multiparental population of apple scions using several phenotyping methods. The studied population consists of individuals from multiple families connected through a common pedigree. The degree of disease of each individual in the population was assessed in three experiments: artificial inoculations of detached dormant shoots, potted trees in a glasshouse and in a replicated field experiment. The genetic basis of the differences in disease was studied using a pedigree-based analysis (PBA). Three quantitative trait loci (QTL), on linkage groups (LG) 6, 8 and 10 were identified in more than one of the phenotyping strategies. An additional four QTL, on LG 2, 5, 15 and 16 were only identified in the field experiment. The QTL on LG2 and 16 were further validated in a biparental population. QTL effect sizes were small to moderate with 4.3 to 19 % of variance explained by a single QTL. A subsequent analysis of QTL haplotypes revealed a dynamic response to this disease, in which the estimated effect of a haplotype varied over the field time-points. Two groups of QTL-haplotypes could be distinguished, one that displayed increased effect and one with a constant effect across time-points. These results suggest that there are different modes of control of N. ditissima in the early stages of infection compared to later time-points of disease development. It also shows that multiple QTL will need to be considered to improve resistance to European canker in apple breeding germplasm.

2012 ◽  
Vol 9 (5) ◽  
pp. 610-620 ◽  
Author(s):  
Thomas A Trikalinos ◽  
Ingram Olkin

Background Many comparative studies report results at multiple time points. Such data are correlated because they pertain to the same patients, but are typically meta-analyzed as separate quantitative syntheses at each time point, ignoring the correlations between time points. Purpose To develop a meta-analytic approach that estimates treatment effects at successive time points and takes account of the stochastic dependencies of those effects. Methods We present both fixed and random effects methods for multivariate meta-analysis of effect sizes reported at multiple time points. We provide formulas for calculating the covariance (and correlations) of the effect sizes at successive time points for four common metrics (log odds ratio, log risk ratio, risk difference, and arcsine difference) based on data reported in the primary studies. We work through an example of a meta-analysis of 17 randomized trials of radiotherapy and chemotherapy versus radiotherapy alone for the postoperative treatment of patients with malignant gliomas, where in each trial survival is assessed at 6, 12, 18, and 24 months post randomization. We also provide software code for the main analyses described in the article. Results We discuss the estimation of fixed and random effects models and explore five options for the structure of the covariance matrix of the random effects. In the example, we compare separate (univariate) meta-analyses at each of the four time points with joint analyses across all four time points using the proposed methods. Although results of univariate and multivariate analyses are generally similar in the example, there are small differences in the magnitude of the effect sizes and the corresponding standard errors. We also discuss conditional multivariate analyses where one compares treatment effects at later time points given observed data at earlier time points. Limitations Simulation and empirical studies are needed to clarify the gains of multivariate analyses compared with separate meta-analyses under a variety of conditions. Conclusions Data reported at multiple time points are multivariate in nature and are efficiently analyzed using multivariate methods. The latter are an attractive alternative or complement to performing separate meta-analyses.


2021 ◽  
Author(s):  
◽  
Noémie Valenza-Troubat

<p><b>Understanding the relationship between DNA sequence variation and the diversity of observable traits across the tree of life is a central research theme in biology. In all organisms, most traits vary continuously between individuals. Explaining the genetic basis of this quantitative variation requires disentangling genetic from non-genetic factors, as well as their interactions. The identification of causal genetic variants yields fundamental insights into how evolution creates diversity across the tree of life. Ultimately, this information can be used for medical, environmental and agricultural applications. Aquaculture is an industry that is experiencing significant global growth and is benefiting from the advances of genomic research. Genomic information helps to improve complex commercial phenotypes such as growth traits, which are easily quantified visually, but influenced by polygenes and multiple environmental factors, such as temperature. In the context of a global food crisis and environmental change, there is an urgent need not only to understand which genetic variants are potential candidates for selection gains, but also how the architecture of these traits are composed (e.g. monogenes, polygenes) and how they are influenced by and interact with the environment. The overall goal of this thesis research was to generate a genome-wide multi-omics dataset matched with exhaustive phenotypic information derived from a F0-F1 pedigree to investigate the quantitative genetic basis of growth in the New Zealand silver trevally (Pseudocaranx georgianus). These data were used to identify genomic regions that co-segregate with growth traits, and to describe the regulation of the genes involved in response to temperature fluctuations. The findings of this research helped gain fundamental insights into the genotype–phenotype map in an important teleost species and understand its ability to dynamically respond to temperature variations. This will ultimately support the establishment of a genomics-informed New Zealand aquaculture breeding programme. </b></p> <p>Chapter 1 of this thesis provides an overview of how genes interact with the environment to produce various growth phenotypes and how an understanding of this is important in aquaculture. This first chapter provides the deeper context for the research in subsequent data chapters. </p> <p>Chapter 2 describes the study population, the collection of phenotypic and genotypic data, and a first description of the genetic parameters of growth traits in trevally. A combination of Whole Genome Sequencing (WGS) and Genotyping-By-Sequencing (GBS) techniques were used to generate 60 thousand Single Nucleotide Polymorphism (SNP) markers for individuals in a two-generation pedigree. Together with phenotypic data, the genotyping data were used to reconstruct the pedigree, measure inbreeding levels, and estimate heritability for 10 growth traits. Parents were identified for 63% of the offspring and successful pedigree reconstruction indicated highly uneven contributions of each parent, and between the sexes, to the subsequent generation. The average inbreeding levels did not change between generations, but were significantly different between families. Growth patterns were found to be similar to that of other carangids and subject to seasonal variations. Heritability as well as genetic and phenotypic correlations were estimated using both a pedigree and a genomic relatedness matrix. All growth trait heritability estimates and correlations were found to be consistently high and positively correlated to each other. </p> <p>In Chapter 3, genotypic and phenotypic data were used to carry out linkage mapping and a genome-wide association study (GWAS) to map quantitative trait loci (QTLs) associated with growth differences in the F1 population. A linkage map was generated using the largest family, which allowed to scan for rare variants associated with the traits. The linkage map reported in this thesis is the first one for the Pseudocaranx genus and one of the densest for the carangid family. It included 19,861 SNPs contained in 24 linkage groups, which correspond to the 24 trevally chromosomes. Eight significant QTLs associated with height, length and weight were discovered on three linkage groups. Using GWAS, 113 SNPs associated with nine traits were identified and 29 genetic growth hot spots were uncovered. Two of the GWAS markers co-located with the QTLs discovered with the linkage mapping analysis. This demonstrates that combining QTL mapping and GWAS represents a powerful approach for the identification and validation of loci controlling complex phenotypes, such as growth, and provides important insights into the genetic architecture of these traits. </p> <p>Chapter 4, the last data chapter, investigates plasticity in gene expression patterns and growth of juvenile trevally, in response to different temperatures. Temperature conditions were experimentally manipulated for 1 month to mimic seasonal extremes. Phenotypic differences in growth were measured in 400 individuals, and the gene expression patterns of the pituitary gland and the liver were compared across treatments in a subset of 100 individuals, using RNA sequencing. Results showed that growth increased 50% more in the warmer compared with the colder condition, suggesting that temperature has a large impact on the metabolic activity associated with growth. We were able to annotate 27,887 gene models and found 39 differentially expressed genes (DEGs) in the pituitary, and 238 in the liver. Of these, 6 DEGs showed a common expression pattern between the tissues. Annotated blast matches of all DEGs revealed genes linked to major pathways affecting metabolism and reproduction. Our results indicate that native New Zealand trevally exhibit predictable plastic regulatory responses to temperature stress and the genes identified provide excellent for selective breeding objectives and studied how populations may adapt to increasing temperatures.</p> <p>Finally, Chapter 5 discusses the implications, future directions, and application of this research for trevally and other breeding programmes. It more broadly highlights the insights that were gained on the genetic architecture of growth, and the role of temperature in interacting and modulating genes involved in plastic growth responses.</p>


2020 ◽  
Vol 10 (7) ◽  
pp. 2297-2315 ◽  
Author(s):  
Carolina Chavarro ◽  
Ye Chu ◽  
Corley Holbrook ◽  
Thomas Isleib ◽  
David Bertioli ◽  
...  

Although seed and pod traits are important for peanut breeding, little is known about the inheritance of these traits. A recombinant inbred line (RIL) population of 156 lines from a cross of Tifrunner x NC 3033 was genotyped with the Axiom_Arachis1 SNP array and SSRs to generate a genetic map composed of 1524 markers in 29 linkage groups (LG). The genetic positions of markers were compared with their physical positions on the peanut genome to confirm the validity of the linkage map and explore the distribution of recombination and potential chromosomal rearrangements. This linkage map was then used to identify Quantitative Trait Loci (QTL) for seed and pod traits that were phenotyped over three consecutive years for the purpose of developing trait-associated markers for breeding. Forty-nine QTL were identified in 14 LG for seed size index, kernel percentage, seed weight, pod weight, single-kernel, double-kernel, pod area and pod density. Twenty QTL demonstrated phenotypic variance explained (PVE) greater than 10% and eight more than 20%. Of note, seven of the eight major QTL for pod area, pod weight and seed weight (PVE >20% variance) were attributed to NC 3033 and located in a single linkage group, LG B06_1. In contrast, the most consistent QTL for kernel percentage were located on A07/B07 and derived from Tifrunner.


Ecology ◽  
2020 ◽  
Vol 101 (6) ◽  
Author(s):  
Alexandro B. Leverkus ◽  
Michael J. Crawley

1998 ◽  
Vol 21 (2) ◽  
pp. 222-223
Author(s):  
Bruce A. Thyer

Chow's defense of NHSTP is masterful. His dismissal of including effect sizes (ES) is misplaced, and his failure to discuss the additional practice of reporting proportions of variance explained (PVE) is an important omission. Reporting the results of inferential statistics will be greatly enhanced by including ES and PVE when results are first determined to be statistically significant.


2019 ◽  
Author(s):  
Jaime Derringer

AbstractTwo recent papers, and an author response to prior commentary, addressing the genetic architecture of human temperament and character claimed that “The identified SNPs explained nearly all the heritability expected”. The authors’ method for estimating heritability may be summarized as: Step 1: Pre-select SNPs on the basis of GWAS p<0.01 in the target sample. Step 2: Enter target sample genotypes (the pre-selected SNPs from Step 1) and phenotypes into an unsupervised machine learning algorithm (Phenotype-Genotype Many-to-Many Relations Analysis, PGMRA) for further reduction of the set of SNPs. Step 3: Test the sum score of the SNPs identified from Step 2, weighted by the GWAS regression weights estimated in Step 1, within the same target sample. The authors interpreted the linear regression model R2 obtained from Step 3 as a measure of successfully identified heritability. Regardless of the method applied to select SNPs in Step 2, the combination of Steps 1 and 3, as described, causes inflation of the estimated effect size. The extent of this inflation is demonstrated here, where random SNP selection and polygenic scoring from simulated random data recovered effect sizes similar to those reported in the original empirical papers.


Polar Record ◽  
2017 ◽  
Vol 53 (5) ◽  
pp. 534-549 ◽  
Author(s):  
Clare Hawkes ◽  
Kimberley Norris

ABSTRACTThe third-quarter phenomenon is the dominant theoretical model to explain the psychological impacts of deployment in Antarctica on personnel. It posits that detrimental symptoms to functioning, such as negative mood, increase gradually throughout deployment and peak at the third-quarter point, regardless of overall deployment length. However, there is equivocal support for the model. The current meta-analysis included data from 21 studies (involving 1,826 participants) measuring negative mood during deployment to elucidate this discrepancy. Across studies analyses were conducted on three data types: stratified by month using repeated-measured all time points meta-analytic techniques and pre/post-deployment data for summer/winter deployment seasons. Our results did not support the proposed parameters of the third-quarter phenomenon, as negative mood did not peak at the third-quarter point (August/September) of deployment. Overall effect sizes indicated that negative mood was greater at baseline than the end of deployment for summer and winter deployment seasons. These findings have theoretical and practical implications and should be used to guide future research, assisting in the development and modification of pre-existing prevention and intervention programmes to improve well-being and functioning of personnel during Antarctic deployment.


2006 ◽  
Vol 37 (2) ◽  
pp. 163-180 ◽  
Author(s):  
JONATHAN FLINT ◽  
MARCUS R. MUNAFÒ

The idea that some phenotypes bear a closer relationship to the biological processes that give rise to psychiatric illness than diagnostic categories has attracted considerable interest. Much effort has been devoted to finding such endophenotypes, partly because it is believed that the genetic basis of endophenotypes will be easier to analyse than that of psychiatric disease. This belief depends in part on the assumption that the effect sizes of genetic loci contributing to endophenotypes are larger than those contributing to disease susceptibility, hence increasing the chance that genetic linkage and association tests will detect them. We examine this assumption by applying meta-analytical techniques to genetic association studies of endophenotypes. We find that the genetic effect sizes of the loci examined to date are no larger than those reported for other phenotypes. A review of the genetic architecture of traits in model organisms also provides no support for the view that the effect sizes of loci contributing to phenotypes closer to the biological basis of disease is any larger than those contributing to disease itself. While endophenotype measures may afford greater reliability, it should not be assumed that they will also demonstrate simpler genetic architecture.


Blood ◽  
1996 ◽  
Vol 88 (5) ◽  
pp. 1718-1724 ◽  
Author(s):  
DL Albert ◽  
SJ Brodie ◽  
VG Sasseville ◽  
DJ Ringler

Abstract New world nonhuman primates of the genus Aotus (owl monkeys) can be categorized by 11 distinct karyotypes (K). It has been demonstrated that monkeys of K-VI persistently have one order of magnitude more eosinophils (EOS) in the peripheral blood than K-I monkeys. The purpose of this study was to investigate the basis for this difference and examine EOS recruitment using two cutaneous models of inflammation. Peripheral blood EOS were isolated on metrizamide gradients to > or = 95% purity and then used for phenotypic studies. There were no significant differences when comparing karyotypes in the ratio of normodense (K-I, 6.4% +/- 3.8%; K-VI, 21.1% +/- 8.8%) EOS or their survival in culture (K-I, 5.3% +/- 2.9% at 72 hours; K-VI, 2.8% +/- 0.7% at 72 hours) (P > .05). Examination of bone marrow revealed that K- VI monkeys had greater than fivefold more EOS and EOS precursors than K- I animals. To examine EOS function in recruitment, monkeys of each karyotype were given a single intradermal injection of Escherichia coli lipopolysaccharide (LPS) or human recombinant (PMN) and mononuclear cells occurred in response to LPS as early as 4 hours after injection; the severity of infiltration was similar in both karyotypes and at all time points up to 24 hours. In contrast, by 8 hours after intradermal injection of RANTES, leukocyte infiltration in K-I monkeys consisted mostly of PMN (94.8% +/- 0.7%) that were predominantly EOS. In comparison, there was essentially no infiltrate in K-VI animals at all time points. There was no difference in VCAM-1 expression in response to intradermal LPS or RANTES between the two karyotypes. These results suggest that the genetic basis of peripheralblood eosinophilia in K-VI owl monkeys is likely a function of heightened eosinophilopoiesis and depressed recruitment kinetics from the peripheral circulatory pool in response to RANTES.


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