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Developmental quantitative genetic models of evolutionary change.

Discussions about evolutionary change in developmental processes or morphological structures are predicated on specific quantitative genetic models whose parameters predict whether evolutionary change can occur, its relative rate and direction, and if correlated change will occur in other related and unrelated structures. The appropriate genetic model should reflect the relevant genetical and developmental biology of the organisms, yet be simple enough in its parameters so that deductions can be made and hypotheses tested. As a consequence, the choice of the most appropriate genetic model for polygenically controlled traits is a complex tissue and the eventual choice of model is often a compromise between completeness of the model and computational expediency. Herein, we discuss several developmental quantitative genetic models for the evolution of development and morphology. The models range from the classical direct effects model to complex epigenetic models. Further, we demonstrate the algebraic equivalency of the Cowley and Atchley epigenetic model and Wagner's developmental mapping model. Finally, we propose a new multivariate model for continuous growth trajectories. The relative efficacy of these various models for understanding evolutionary change in developmental and morphological traits is discussed.

Animals↗

Quantitative genetic models of sexual selection.

Modeling of R.A. Fisher's ideas about the evolution of male ornamentation using quantitative genetics began in the 1980s. Following an initial period of enthusiasm, interest in these models began to wane when theoretical studies seemed to show that the rapid evolution of ornaments would not occur if there were costs associated with female mate choice. Recent theoretical work has shown, however, that runaway evolution and other kinds of extensive diversification of ornaments and preferences can occur, even when female choice is costly. These new models highlight crucial parameters that profoundly influence evolutionary trajectories, but these parameters have been neglected in empirical studies. Here, we review quantitative genetic models of sexual selection with the aim of fostering communication and synergism between theoretical and empirical enterprises. We also point out several areas in which additional empirical work could distinguish between alternative models of evolution.

Journal Article↗

Genes, environment, and race: quantitative genetic approaches.

Understanding the origins of racial health disparities is currently a central focus of health-oriented funding agencies and the health policy community. In particular, the role of genetics in the origin of racial health disparities is receiving growing attention and has been susceptible to considerable misinterpretation. In this article, the authors provide a basic discussion about the concept of genes and race, an introduction to quantitative genetics, and some examples of quantitative genetic analyses of health conditions in an underserved population. The intent is to outline the conceptual limitations of exclusivist views of either environmental or genetic determination and to emphasize the coaction and interaction of genes and environments in health.

Environment↗

Marker-assisted estimation of quantitative genetic parameters in rainbow trout, Oncorhynchus mykiss.

Estimation of quantitative genetic parameters conventionally requires known pedigree structure. However, several methods have recently been developed to circumvent this requirement by inferring relationship structure from molecular marker data. Here, two such marker-assisted methodologies were used and compared in an aquaculture population of rainbow trout (Oncorhynchus mykiss). Firstly a regression-based model employing estimates of pairwise relatedness was applied, and secondly a Markov Chain Monte Carlo (MCMC) procedure was employed to reconstruct full-sibships and hence an explicit pedigree. While both methods were effective in detecting significant components of genetic variance and covariance for size and spawning time traits, the regression model resulted in estimates that were quantitatively unreliable, having both significant bias and low precision. This result can be largely attributed to poor performance of the pairwise relatedness estimator. In contrast, genetic parameters estimated from the reconstructed pedigree showed close agreement with ideal values obtained from the true pedigree. Although not significantly biased, parameters based on the reconstructed pedigree were underestimated relative to ideal values. This was due to the complex structure of the true pedigree in which high numbers of half-sibling relationships resulted in inaccurate partitioning of full-sibships, and additional unrecognized relatedness between families.

Animals↗

A sex-specific quantitative genetic theory for life history and development.

A quantitative genetic framework is developed to examine life history evolution with sex-specific differences in morphology, demographic parameters, and selection differentials occurring. Age-specific selection differentials are partitioned according to whether mediated through differential fertility, survival, or mating success, permitting the derivation of weightings according to selection mechanism as well as individual age and sex. The relationship of present to previously gained results is then examined, with applications to the evolution of bimaturism and evolutionary conservativeness of survival rate.

Age Factors↗

Joint effects of pleiotropic selection and stabilizing selection on the maintenance of quantitative genetic variation at mutation-selection balance.

In quantitative genetics, there are two basic "conflicting" observations: abundant polygenic variation and strong stabilizing selection that should rapidly deplete that variation. This conflict, although having attracted much theoretical attention, still stands open. Two classes of model have been proposed: real stabilizing selection directly on the metric trait under study and apparent stabilizing selection caused solely by the deleterious pleiotropic side effects of mutations on fitness. Here these models are combined and the total stabilizing selection observed is assumed to derive simultaneously through these two different mechanisms. Mutations have effects on a metric trait and on fitness, and both effects vary continuously. The genetic variance (V(G)) and the observed strength of total stabilizing selection (V(s,t)) are analyzed with a rare-alleles model. Both kinds of selection reduce V(G) but their roles in depleting it are not independent: The magnitude of pleiotropic selection depends on real stabilizing selection and such dependence is subject to the shape of the distributions of mutational effects. The genetic variation maintained thus depends on the kurtosis as well as the variance of mutational effects: All else being equal, V(G) increases with increasing leptokurtosis of mutational effects on fitness, while for a given distribution of mutational effects on fitness, V(G) decreases with increasing leptokurtosis of mutational effects on the trait. The V(G) and V(s,t) are determined primarily by real stabilizing selection while pleiotropic effects, which can be large, have only a limited impact. This finding provides some promise that a high heritability can be explained under strong total stabilizing selection for what are regarded as typical values of mutation and selection parameters.

Genetic Variation↗

The effect of temperature and wing morphology on quantitative genetic variation in the cricket Gryllus firmus, with an appendix examining the statistical properties of the Jackknife-MANOVA method of matrix comparison.

We investigated the effect of temperature and wing morphology on the quantitative genetic variances and covariances of five size-related traits in the sand cricket, Gryllus firmus. Micropterous and macropterous crickets were reared in the laboratory at 24, 28 and 32 degrees C. Quantitative genetic parameters were estimated using a nested full-sib family design, and (co)variance matrices were compared using the T method, Flury hierarchy and Jackknife-manova method. The results revealed that the mean phenotypic value of each trait varied significantly among temperatures and wing morphs, but temperature reaction norms were not similar across all traits. Micropterous individuals were always smaller than macropterous individuals while expressing more phenotypic variation, a finding discussed in terms of canalization and life-history trade-offs. We observed little variation between the matrices of among-family (co)variation corresponding to each combination of temperature and wing morphology, with only one matrix of six differing in structure from the others. The implications of this result are discussed with respect to the prediction of evolutionary trajectories.

Analysis of Variance↗

Quantitative genetics of plastron shape in slider turtles (Trachemys scripta).

Shape variation is widespread in nature and embodies both a response to and a source for evolution and natural selection. To detect patterns of shape evolution, one must assess the quantitative genetic underpinnings of shape variation as well as the selective environment that the organisms have experienced. Here we used geometric morphometrics to assess variation in plastron shell shape in 1314 neonatal slider turtles (Trachemys scripta) from 162 clutches of laboratory-incubated eggs from two nesting areas. Multivariate analysis of variance indicated that nesting area has a limited role in describing plastron shape variation among clutches, whereas differences between individual clutches were highly significant, suggesting a prominent clutch effect. The covariation between plastron shape and several possible maternal effect variables (yolk hormone levels and egg dimensions) was assessed for a subset of clutches and found to be negligible. We subsequently employed several recently proposed methods for estimating heritability from shape variables, and generalized a univariate approach to accommodate unequal sample sizes. Univariate estimates of shape heritability based on Procrustes distances yielded large values for both nesting populations (h2 approximately 0.86), and multivariate estimates of maximal additive heritability were also large for both nesting populations (h2max approximately 0.57). We also estimated the dominant trend in heritable shape change for each nesting population and found that the direction of shape evolution was not the same for the two sites. Therefore, although the magnitude of shape evolution was similar between nesting populations, the manner in which plastron shape is evolving is not. We conclude that the univariate approach for assessing quantitative genetic parameters from geometric morphometric data has limited utility, because it is unable to accurately describe how shape is evolving.

Animals↗

A quantitative genetic analysis of phenotypic plasticity of diapause induction in the cricket Allonemobius socius.

Although numerous studies have indicated that diapause is heritable and phenotypically plastic, none of them has examined the quantitative genetic basis of this plasticity. In this paper we report such an analysis for egg diapause in the cricket Allonemobius socius, the induction of which appears to be largely determined by the mother. We analysed the quantitative genetic basis of the phenotypically plastic response of female A. socius to age and environmental conditions. We measured the production of diapause eggs on four occasions over a 16-day period, and in two environments; one mimicking an 'early' period of the year and another mimicking a 'late' period. We analysed genetic variation in phenotypic plasticity using the character-state approach. Diapause proportion was heritable (h2 ranged from 0.17 to 0.49, being larger in the 'early' environment), and the genetic correlation between ages in proportion of diapausing eggs was close to 1 but showed a decrease with increased difference between ages. There were significant genetic correlations between environments for all ages. Because of the reduction in genetic correlation as the difference in ages increases, selection will be more effective at changing the overall shape of the reaction norm than causing local changes. Furthermore, the high genetic correlations may constrain the evolution of the reaction norm. When the two environments are converted into the estimated days in the year the two reaction norms form approximately a single curve as predicted from previous theoretical analysis of the optimal reaction norm.

Analysis of Variance↗

Quantitative genetic analysis of glucose transporter 4 mRNA levels in baboon adipose.

OBJECTIVE: Glucose transporter 4 (GLUT4) is an insulin-responsive glucose transporter expressed in adipose tissue. A decrease of the mRNA abundance of GLUT4 in adipose tissue has been observed in conditions of insulin resistance. The objective was to conduct quantitative genetic analyses using GLUT4 mRNA levels in omental adipose tissue of baboons as a novel phenotype. RESEARCH METHODS AND PROCEDURES: A blood sample and a biopsy of omental adipose tissue were collected from 418 adult, pedigreed baboons. Total RNA was isolated from adipose tissue biopsies, and GLUT4 mRNA abundance was assayed by quantitative, real-time reverse transcription-polymerase chain reaction. Insulin and glucose were determined in fasting plasma by standard methods. Quantitative genetic analyses were conducted using GLUT4 mRNA, insulin, and glucose as quantitative traits. RESULTS: GLUT4 mRNA expression in omental adipose tissue was heritable (h(2) = 0.23, p = 0.001). Bivariate genetic analyses revealed a significant genetic correlation (rho(G)) between GLUT4 mRNA abundance and both body weight (rho(G) = 0.63, p = 0.007), BMI (rho(G) = 0.59, p = 0.02) and insulin (rho(G) = 0.72, p = 0.04). A genome scan was conducted, and a quantitative trait locus was detected on chromosome 10p12 with a logarithm of the odds ratio score of 1.1. DISCUSSION: GLUT4 mRNA abundance in omental adipose tissue has a significant genetic component. These findings suggest that expression of GLUT4 mRNA, plasma insulin levels, and body weight may be regulated by common genes.

Adipose Tissue↗

Resistance to Millettia molluscicide in Biomphalaria glabrata: a quantitative genetical approach.

This paper demonstrates the use of a quantitative genetical technique to assess genetic variance in molluscicide resistance in a Millettia thonningii-Biomphalaria glabrata system. Results indicated that there were significant genetic variances in both snail size and survival time in 10 p.p.m. molluscicide suspension. The possibility of wider applications of this technique in examining the genetic basis of molluscicide or pesticide resistance in target species is discussed.

Animals↗

Sewall Wright and quantitative genetics.

Some aspects of Wright's great contribution to quantitative genetics and animal breeding are reviewed in relation to current research and practice. Particular aspects discussed are as follows: the utility of his definition of inbreeding coefficient in terms of the correlation of uniting gametes; the maintenance of genetic variation in the optimum model; the inter-relations between past and present animal-breeding practice and the shifting-balance theory of evolution.

Animals↗

On the quantitative genetics of mixture characters.

Finite mixture models are helpful for uncovering heterogeneity due to hidden structure. Quantitative genetics issues of continuous characters having a finite mixture of Gaussian components as statistical distribution are explored in this article. The partition of variance in a mixture, the covariance between relatives under the supposition of an additive genetic model, and the offspring-parent regression are derived. Formulas for assessing the effect of mass selection operating on a mixture are given. Expressions for the genetic and phenotypic correlations between mixture and Gaussian traits and between two mixture traits are presented. It is found that, if there is heterogeneity in a population at the genetic or environmental level, then genetic parameters based on theory treating distributions as homogeneous can lead to misleading interpretations. Some peculiarities of mixture characters are: heritability depends on the mean values of the component distributions, the offspring-parent regression is nonlinear, and genetic or phenotypic correlations cannot be interpreted devoid of the mixture proportions and of the parameters of the distributions mixed.

Environment↗

Quantitative genetics of ontogeny of sexual dimorphism in red junglefowl (Gallus gallus).

We studied phenotypic patterns and underlying quantitative genetics of development of sexual size dimorphism in red junglefowl (Gallus gallus). Using a multigenerational pedigree and the 'animal model' technique, we found significant heritability for many of the size and growth-related traits we examined, as well as significant genetic correlations among them. Despite sexual size dimorphism throughout posthatching ontogeny, the genetic correlation between males and females for all size measurements and growth parameters remained high. Significant positive phenotypic and genetic correlations between the fastest rate of growth and mass at week 26 (near asymptote) indicate that faster growth when young promotes larger adult size. However, age at which peak growth is reached does not appear to be phenotypically or genetically correlated with adult size. Positive genetic correlations within traits among ages were common, demonstrating that the genetic variance important to growth is relatively consistent among ages. However, male mass and tarsus length showed no genetic correlation between week 0 values and those from later ages. The body size traits of mass and tarsus length were genetically correlated with each other in females, but this pattern was not significant in males. Thus, despite striking sexual dimorphism in size and growth trajectories, size dimorphic traits in junglefowl show, with some exceptions, genetic integration between the sexes, among ages, and between traits.

Animals↗

Influence of mom and dad: quantitative genetic models for maternal effects and genomic imprinting.

The expression of an imprinted gene is dependent on the sex of the parent it was inherited from, and as a result reciprocal heterozygotes may display different phenotypes. In contrast, maternal genetic terms arise when the phenotype of an offspring is influenced by the phenotype of its mother beyond the direct inheritance of alleles. Both maternal effects and imprinting may contribute to resemblance between offspring of the same mother. We demonstrate that two standard quantitative genetic models for deriving breeding values, population variances and covariances between relatives, are not equivalent when maternal genetic effects and imprinting are acting. Maternal and imprinting effects introduce both sex-dependent and generation-dependent effects that result in differences in the way additive and dominance effects are defined for the two approaches. We use a simple example to demonstrate that both imprinting and maternal genetic effects add extra terms to covariances between relatives and that model misspecification may over- or underestimate true covariances or lead to extremely variable parameter estimation. Thus, an understanding of various forms of parental effects is essential in correctly estimating quantitative genetic variance components.

Analysis of Variance↗

Selecting a control group in studies of the familial coaggregation of two disorders: a quantitative genetics perspective.

We sought to compare four different definitions of control groups in studies of the coaggregation between two disorders (A and B) on: 1) their ability to detect valid familial coaggregation; 2) their liability to artifactual evidence for familial coaggregation; and 3) their robustness to the overselection of comorbid cases. Using a quantitative genetic model of transmission, we simulated sibling pairs with familial and nonfamilial sources of comorbidity. Four different definitions of controls were tested to predict disorder B in siblings of cases vs. controls: 1) unscreened controls included subjects with A or B as well as subjects with either A or B; 2) in the symmetrical selection method, controls included only subjects without A; 3) supernormal controls included only subjects without A or B; and 4) in the pure proband method, cases included subjects with A only, and controls included only subjects without A or B. In the absence of selection bias, 1) the unscreened control and the symmetrical selection methods did not yield spurious evidence for familial coaggregation and could detect familial coaggregation; 2) the supernormal controls yielded spurious evidence of familial coaggregation; and 3) the pure proband method sometimes yielded spurious evidence for negative familial coaggregation, and had limited power to detect familial coaggregation. However, the pure proband method was the only one unaffected by overselection of comorbid cases. In the absence of selection bias, both the unscreened control and the symmetrical selection methods are appropriate, and the robustness of the pure proband method to overselection of comorbid cases may be an interesting feature in studies using clinical samples. Moreover, quantitative genetics methods may offer important advantages in the study of familial coaggregation.

Anxiety Disorders↗

Quantitative genetics of sexual plasticity: the environmental threshold model and genotype-by-environment interaction for phallus development in the snail Bulinus truncatus.

Sexual polymorphisms are model systems for analyzing the evolution of reproductive strategies. However, their plasticity and other binary traits have rarely been studied, with respect to environmental variables. A possible reason is that, although threshold models offer an adequate quantitative genetics framework for binary traits in a single environment, analyzing their plasticity requires more refined empirical and theoretical approaches. The statistical framework proposed here, based on the environmental threshold model (ETM), should partially fill this gap. This methodology is applied to an empirical dataset on a plastic sexual polymorphism, aphally, in the snail Bulinus truncatus. Aphally is characterized by the co-occurrence of regular hermaphrodites (euphallics) together with hermaphrodites deprived of the male copulatory organ (aphallics). Reaction norms were determined for 40 inbred lines, distributed at three temperatures, in a first experiment. A second experiment allowed us to rule out maternal effects. We confirmed the existence of high broad-sense heritabilities as well as a positive effect of high temperatures on aphally. However a significant genotype-by-environment interaction was detected for the first time, suggesting that sexual plasticity itself can respond to selection. A nested series of four ETM-like models was developed for estimating genetical effects on both mean aphally rate and plasticity. These models were tested using a maximum-likelihood procedure and fitted to aphally data. Although no perfect fit of models to data was observed, the refined versions of ETM models conveniently reduce the analysis of complex reaction norms of binary traits into standard quantitative genetics parameters, such as genetic values and environmental variances.

Animals↗

Somatic mutation studies in human lymphoid cells: the detectability of quantitative genetic variants in two-dimensional gels.

The feasibility of detecting quantitative genetic variants based on a decrease in the integrated intensity of polypeptide spots in two-dimensional polyacrylamide gels of human lymphoblastoid cell clones was investigated. A battery of 65 spots on 115 gels was studied to determine the distribution of quantitative measures for spots where no mutation had occurred. The corresponding distribution for spots which have decreased integrated intensity as a result of a mutation at one of two alleles coding for the spot was investigated by quantitating spots for which mutations were known to have occurred. These two distributions allowed the estimation of the rates of false positive and false negative errors for any particular strategy aimed at detecting null mutations, and thus provides a basis for the design of efficient strategies. Our silver stained gels have sufficient reproducibility of spot integrated intensities so that, for situations in which the mutation rate is relatively high, it is practical to monitor a subset of spots for null variants using the same digitized images as are used to detect structural variants.

Clone Cells↗