scholarly journals Genetic variation and microRNA targeting of A-to-I RNA editing fine tune human tissue transcriptomes

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Eddie Park ◽  
Yan Jiang ◽  
Lili Hao ◽  
Jingyi Hui ◽  
Yi Xing
Keyword(s):  
Genetic Variation ◽  
Quantitative Trait Loci ◽  
Rna Editing ◽  
Quantitative Trait ◽  
Complex Traits ◽  
Expression Profiles ◽  
Phenotypic Variability ◽  
Tissue Specific ◽  
Specific Manner ◽  
Trait Loci

Abstract Background A-to-I RNA editing diversifies the transcriptome and has multiple downstream functional effects. Genetic variation contributes to RNA editing variability between individuals and has the potential to impact phenotypic variability. Results We analyze matched genetic and transcriptomic data in 49 tissues across 437 individuals to identify RNA editing events that are associated with genetic variation. Using an RNA editing quantitative trait loci (edQTL) mapping approach, we identify 3117 unique RNA editing events associated with a cis genetic polymorphism. Fourteen percent of these edQTL events are also associated with genetic variation in their gene expression. A subset of these events are associated with genome-wide association study signals of complex traits or diseases. We determine that tissue-specific levels of ADAR and ADARB1 are able to explain a subset of tissue-specific edQTL events. We find that certain microRNAs are able to differentiate between the edited and unedited isoforms of their targets. Furthermore, microRNAs can generate an expression quantitative trait loci (eQTL) signal from an edQTL locus by microRNA-mediated transcript degradation in an editing-specific manner. By integrative analyses of edQTL, eQTL, and microRNA expression profiles, we computationally discover and experimentally validate edQTL-microRNA pairs for which the microRNA may generate an eQTL signal from an edQTL locus in a tissue-specific manner. Conclusions Our work suggests a mechanism in which RNA editing variability can influence the phenotypes of complex traits and diseases by altering the stability and steady-state level of critical RNA molecules.

scholarly journals 3D sorghum reconstructions from depth images enable identification of quantitative trait loci regulating shoot architecture

2016 ◽  
Author(s):  
Ryan F. McCormick ◽  
Sandra K. Truong ◽  
John E. Mullet
Keyword(s):  
Quantitative Trait Loci ◽  
Quantitative Trait ◽  
Complex Traits ◽  
Genetic Basis ◽  
Phenotypic Variability ◽  
Leaf Angle ◽  
Shoot Height ◽  
Rapid Acquisition ◽  
Shoot Architecture ◽  
Trait Loci

AbstractDissecting the genetic basis of complex traits is aided by frequent and non-destructive measurements. Advances in range imaging technologies enable the rapid acquisition of three-dimensional (3D) data from an imaged scene. A depth camera was used to acquire images of Sorghum bicolor, an important grain, forage, and bioenergy crop, at multiple developmental timepoints from a greenhouse-grown recombinant inbred line population. A semi-automated software pipeline was developed and used to generate segmented, 3D plant reconstructions from the images. Automated measurements made from 3D plant reconstructions identified quantitative trait loci (QTL) for standard measures of shoot architecture such as shoot height, leaf angle and leaf length, and for novel composite traits such as shoot compactness. The phenotypic variability associated with some of the QTL displayed differences in temporal prevalence; for example, alleles closely linked with the sorghum Dwarf3 gene, an auxin transporter and pleiotropic regulator of both leaf inclination angle and shoot height, influence leaf angle prior to an effect on shoot height. Furthermore, variability in composite phenotypes that measure overall shoot architecture, such as shoot compactness, is regulated by loci underlying component phenotypes like leaf angle. As such, depth imaging is an economical and rapid method to acquire shoot architecture phenotypes in agriculturally important plants like sorghum to study the genetic basis of complex traits.

scholarly journals Mapping of Quantitative Trait Loci Controlling Adaptive Traits in Coastal Douglas Fir. III. Quantitative Trait Loci-by-Environment Interactions

Genetics ◽  
2003 ◽  
Vol 165 (3) ◽  
pp. 1489-1506
Author(s):  
Kathleen D Jermstad ◽  
Daniel L Bassoni ◽  
Keith S Jech ◽  
Gary A Ritchie ◽  
Nicholas C Wheeler ◽  
...  
Keyword(s):  
Quantitative Trait Loci ◽  
Quantitative Trait ◽  
Complex Traits ◽  
Moisture Stress ◽  
Interval Mapping ◽  
Douglas Fir ◽  
Adaptive Traits ◽  
Growth Cessation ◽  
Trait Loci ◽  
Growth Initiation

Abstract Quantitative trait loci (QTL) were mapped in the woody perennial Douglas fir (Pseudotsuga menziesii var. menziesii [Mirb.] Franco) for complex traits controlling the timing of growth initiation and growth cessation. QTL were estimated under controlled environmental conditions to identify QTL interactions with photoperiod, moisture stress, winter chilling, and spring temperatures. A three-generation mapping population of 460 cloned progeny was used for genetic mapping and phenotypic evaluations. An all-marker interval mapping method was used for scanning the genome for the presence of QTL and single-factor ANOVA was used for estimating QTL-by-environment interactions. A modest number of QTL were detected per trait, with individual QTL explaining up to 9.5% of the phenotypic variation. Two QTL-by-treatment interactions were found for growth initiation, whereas several QTL-by-treatment interactions were detected among growth cessation traits. This is the first report of QTL interactions with specific environmental signals in forest trees and will assist in the identification of candidate genes controlling these important adaptive traits in perennial plants.

scholarly journals Leveraging DNA methylation quantitative trait loci to characterize the relationship between methylomic variation, gene expression and complex traits

2018 ◽  
Author(s):  
Eilis Hannon ◽  
Tyler J Gorrie-Stone ◽  
Melissa C Smart ◽  
Joe Burrage ◽  
Amanda Hughes ◽  
...  
Keyword(s):  
Gene Expression ◽  
Dna Methylation ◽  
Genetic Variation ◽  
Quantitative Trait Loci ◽  
Quantitative Trait ◽  
Complex Traits ◽  
Common Genetic Variation ◽  
Online Data ◽  
The Relationship ◽  
Methylation Quantitative Trait Loci

ABSTRACTCharacterizing the complex relationship between genetic, epigenetic and transcriptomic variation has the potential to increase understanding about the mechanisms underpinning health and disease phenotypes. In this study, we describe the most comprehensive analysis of common genetic variation on DNA methylation (DNAm) to date, using the Illumina EPIC array to profile samples from the UK Household Longitudinal study. We identified 12,689,548 significant DNA methylation quantitative trait loci (mQTL) associations (P < 6.52x10-14) occurring between 2,907,234 genetic variants and 93,268 DNAm sites, including a large number not identified using previous DNAm-profiling methods. We demonstrate the utility of these data for interpreting the functional consequences of common genetic variation associated with > 60 human traits, using Summary data–based Mendelian Randomization (SMR) to identify 1,662 pleiotropic associations between 36 complex traits and 1,246 DNAm sites. We also use SMR to characterize the relationship between DNAm and gene expression, identifying 6,798 pleiotropic associations between 5,420 DNAm sites and the transcription of 1,702 genes. Our mQTL database and SMR results are available via a searchable online database (http://www.epigenomicslab.com/online-data-resources/) as a resource to the research community.

Quantitative trait loci define genes and pathways underlying genetic variation in longevity

2006 ◽  
Vol 41 (10) ◽  
pp. 1046-1054 ◽  
Author(s):  
Robert J. Shmookler Reis ◽  
Ping Kang ◽  
Srinivas Ayyadevara
Keyword(s):  
Genetic Variation ◽  
Quantitative Trait Loci ◽  
Quantitative Trait ◽  
Trait Loci

Bayesian Model Choice and Search Strategies for Mapping Interacting Quantitative Trait Loci

Genetics ◽  
2003 ◽  
Vol 165 (2) ◽  
pp. 867-883 ◽  
Author(s):  
Nengjun Yi ◽  
Shizhong Xu ◽  
David B Allison
Keyword(s):  
Quantitative Trait Loci ◽  
Quantitative Trait ◽  
Complex Traits ◽  
Bayesian Model ◽  
Genetic Model ◽  
Genetic Effects ◽  
Monte Carlo Algorithm ◽  
Data Set ◽  
Epistatic Effects ◽  
Trait Loci

AbstractMost complex traits of animals, plants, and humans are influenced by multiple genetic and environmental factors. Interactions among multiple genes play fundamental roles in the genetic control and evolution of complex traits. Statistical modeling of interaction effects in quantitative trait loci (QTL) analysis must accommodate a very large number of potential genetic effects, which presents a major challenge to determining the genetic model with respect to the number of QTL, their positions, and their genetic effects. In this study, we use the methodology of Bayesian model and variable selection to develop strategies for identifying multiple QTL with complex epistatic patterns in experimental designs with two segregating genotypes. Specifically, we develop a reversible jump Markov chain Monte Carlo algorithm to determine the number of QTL and to select main and epistatic effects. With the proposed method, we can jointly infer the genetic model of a complex trait and the associated genetic parameters, including the number, positions, and main and epistatic effects of the identified QTL. Our method can map a large number of QTL with any combination of main and epistatic effects. Utility and flexibility of the method are demonstrated using both simulated data and a real data set. Sensitivity of posterior inference to prior specifications of the number and genetic effects of QTL is investigated.

Markers, maps and the detection of trait loci

1996 ◽  
Vol 1996 ◽  
pp. 50-50
Author(s):  
C.S. Haley
Keyword(s):  
Genetic Variation ◽  
Quantitative Trait Loci ◽  
Genetic Markers ◽  
Quantitative Trait ◽  
Coat Colour ◽  
Combined Effects ◽  
Potential Interest ◽  
Naturally Occurring ◽  
Trait Loci ◽  
Modern Breeding

Naturally occurring genetic variation is the basis for differences in performance and appearance between and within different breeds and lines of livestock. In a few instances (e.g. coat colour, polling) the genes (or loci) which control the variation between animals and breeds have a large enough effect to be individually recognisable. For many traits, however, the combined effects of many different genes act together to control quantitative differences between breeds and individuals within breeds (hence such genes are often referred to as quantitative trait loci or QTLs). Thus the dramatic successes of modern breeding result from generations of selection which has produced accumulated changes at a number of different loci. The genome contains up to 100,000 different genes and identifying those which contribute to variation in traits of interest is a difficult task. One first step is to identify regions of the genome containing loci of potential interest through their linkage to genetic markers.

scholarly journals How to deal with genotype uncertainty in variance component quantitative trait loci analyses

2011 ◽  
Vol 93 (5) ◽  
pp. 333-342 ◽  
Author(s):  
XIA SHEN ◽  
LARS RÖNNEGÅRD ◽  
ÖRJAN CARLBORG
Keyword(s):  
Quantitative Trait Loci ◽  
Quantitative Trait ◽  
Complex Traits ◽  
Variance Component ◽  
Large Animal ◽  
Trait Loci ◽  
Sib Families ◽  
Variance Component Estimates ◽  
Variance Component Models ◽  
Component Models

SummaryDealing with genotype uncertainty is an ongoing issue in genetic analyses of complex traits. Here we consider genotype uncertainty in quantitative trait loci (QTL) analyses for large crosses in variance component models, where the genetic information is included in identity-by-descent (IBD) matrices. An IBD matrix is one realization from a distribution of potential IBD matrices given available marker information. In QTL analyses, its expectation is normally used resulting in potentially reduced accuracy and loss of power. Previously, IBD distributions have been included in models for small human full-sib families. We develop an Expectation–Maximization (EM) algorithm for estimating a full model based on Monte Carlo imputation for applications in large animal pedigrees. Our simulations show that the bias of variance component estimates using traditional expected IBD matrix can be adjusted by accounting for the distribution and that the calculations are computationally feasible for large pedigrees.

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

2014 ◽  
Vol 33 (4) ◽  
pp. 939-952 ◽  
Author(s):  
Fernando J. Yuste-Lisbona ◽  
Ana M. González ◽  
Carmen Capel ◽  
Manuel García-Alcázar ◽  
Juan Capel ◽  
...  
Keyword(s):  
Genetic Variation ◽  
Quantitative Trait Loci ◽  
Common Bean ◽  
Quantitative Trait ◽  
Epistatic Effects ◽  
Color Traits ◽  
Trait Loci
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