Expression of genetic and environmental variation during ageing

Summary To test for different gene activity during ageing, an experiment was set up to determine whether or not genetic variation and genetic correlations between fitness traits at different ages change in a systematic way through time. Additive genetic and environmental variance components as well as genetic correlations between different age periods were calculated for the fitness trait number of adult offspring in a population of Drosophila melanogaster. Genetic correlations between age periods were all positive and, hence, did not support the theory postulating that genes with beneficial effects on early fitness have pleiotropic unfavourable effects on late fitness. The environmental variation as well as the additive genetic variance showed a clear increase with age. The increase of environmental variation is probably a result of the individuals' increasing difficulties in coping with environmental stress due to physiological deterioration with age. Increased additive genetic variation may be explained by more and more genes being turned on with age. Alternatively, it could be caused by accumulation of deleterious mutations with different effects and may reflect the individuals' capacity of DNA repair.     

Quantitative genetic variation and selection of enzyme activities in Drosophila melanogaster

The nature of the genetic variation for the activity of three enzymes (α-GPD, ME, and SOD) was studied by means of analyses of variance among full-sib and half-sib families. The results presented here indicate that the genetic variation of activity of these enzymes consist primarily of non-additive genetic variance. A moderate level of additive genetic variation was found only for α-GPD activity. We also examined the question whether an association exists between enzyme activities and selection for preadult developmental time. Using the method developed by Lande and Arnold (1983), significant directional selection was observed for α-GPD activity.     

The meaning of genetic variation within and between subpopulations

Summary Argumentation is presented which indicates that the additive decomposition of the total genetic variation of a population into variation within and between (among) its subpopulations suffers from conceptual inconsistency. While the measurement of variation between subpopulations can be shown to be identical to the measurement of subpopulation differentiation, the notion of variation within subpopulations, when viewed as a single measurement, cannot be derived as an independent and cogent concept. Rather, it appears to be merely technically defined as the arithmetic difference between the total variation and the variation between subpopulations, and this difference happens to be non-negative for concave measures of variation such as the (statistical) variance or certain measures of genetic diversity. In order to overcome the conceptual inconsistency, variation between subpopulations could be regarded as subpopulation differentiation and the notion of variation within subpopulations could be replaced by measurements of the degree to which the variation in the total population is represented within the subpopulations. A complementary situation with respect to total variation is thus realized once more, and appropriate measures can be directly derived from existing ones.     

Patterns of quantitative genetic variation in multiple dimensions

A fundamental question for both evolutionary biologists and breeders is the extent to which genetic correlations limit the ability of populations to respond to selection. Here I view this topic from three perspectives. First, I propose several nondimensional statistics to quantify the genetic variation present in a suite of traits and to describe the extent to which correlations limit their selection response. A review of five data sets suggests that the total variation differs substantially between populations. In all cases analyzed, however, the “effective number of dimensions” is less than two: more than half of the total genetic variation is explained by a single combination of traits. Second, I consider how patterns of variation affect the average evolutionary response to selection in a random direction. When genetic variation lies in a small number of dimensions but there are a large number of traits under selection, then the average selection response will be reduced substantially from its potential maximum. Third, I discuss how a low genetic correlation between male fitness and female fitness limits the ability of populations to adapt. Data from two recent studies of natural populations suggest this correlation can diminish or even erase any genetic benefit to mate choice. Together these results suggest that adaptation (in natural populations) and genetic improvement (in domesticated populations) may often be as much constrained by patterns of genetic correlation as by the overall amount of genetic variation.     

The effect of genetic and environmental variation on metabolic gene expression

What is the relationship between genetic or environmental variation and the variation in messenger RNA (mRNA) expression? To address this, microarrays were used to examine the effect of genetic and environmental variation on cardiac mRNA expression for metabolic genes in three groups of Fundulus heteroclitus: (i) individuals sampled in the field (field), (ii) field individuals acclimated for 6 months to laboratory conditions (acclimated), or (iii) individuals bred for 10 successive generations in a laboratory environment (G10). The G10 individuals have significantly less genetic variation than individuals obtained in the field and had a significantly lower variation in mRNA expression across all genes in comparison to the other two groups (P = 0.001). When examining the gene specific variation, 22 genes had variation in expression that was significantly different among groups with lower variation in G10 individuals than in acclimated individuals. Additionally, there were fewer genes with significant differences in expression among G10 individuals vs. either acclimated or field individuals: 66 genes have statistically different levels of expression vs. 107 or 97 for acclimated or field groups. Based on the permutation of the data, these differences in the number of genes with significant differences among individuals within a group are unlikely to occur by chance (P < 0.01). Surprisingly, variation in mRNA expression in field individuals is lower than in acclimated individuals. Relative to the variation among individual within a group, few genes have significant differences in expression among groups (seven, 2.3%) and none of these are different between acclimated and field individuals. The results support the concept that genetic variation affects variation in mRNA expression and also suggests that temporal environmental variation associated with estuarine environments does not increase the variation among individuals or add to the differences among groups.     

On the maintenance of genetic variation: global analysis of Kimura's continuum-of-alleles model

Methods of functional analysis are applied to provide an exact mathematical analysis of Kimura's continuum-of-alleles model. By an approximate analysis, Kimura obtained the result that the equilibrium distribution of allelic effects determining a quantitative character is Gaussian if fitness decreases quadratically from the optimum and if production of new mutants follows a Gaussian density. Lande extended this model considerably and proposed that high levels of genetic variation can be maintained by mutation even when there is strong stabilizing selection. This hypothesis has been questioned recently by Turelli, who published analyses and computer simulations of some multiallele models, approximating the continuum-of-alleles model, and reviewed relevant data. He found that the Kimura and Lande predictions overestimate the amount of equilibrium variance considerably if selection is not extremely weak or mutation rate not extremely high. The present analysis provides the first proof that in Kimura's model an equilibrium in fact exists and, moreover, that it is globally stable. Finally, using methods from quantum mechanics, estimates of the exact equilibrium variance are derived which are in best accordance with Turelli's results. This shows that continuum-of-alleles models may be excellent approximations to multiallele models, if analysed appropriately.     

Evaluation of the extent of genetic variation in mahoganies (Meliaceae) using RAPD markers

Despite the economic importance of mahoganies (Meliaceae) little is known of the pattern of genetic variation within this family of tropical trees. We describe the application of a polymerase chain reaction (PCR)-based polymorphic DNA assay procedure random amplified polymorphic DNAs (RAPDs) to assess the extent of genetic variation between eight mahogany species from four genera. Pronounced genetic differentiation was found between the species and genera. There was a clear separation of Cedrela odorata from the other species, with 95% of the variable amplification products differing, whereas Lovoa trichilioides, Khaya spp. and Swietenia spp. were more closely grouped. These results are consistent with the current taxonomic viewpoint. A number of markers were found to be diagnostic for particular species, which could be of value in determining the status of putative hybrids. The application of RAPDs to the study of genetic variation in mahoganies is discussed in the context of developing genetic conservation and improvement strategies for these species.     

土壤水分时空变异及其与环境因子的关系

土壤水分的时空变异是指在一定的景观内,不同时间、地点和土层的土壤水分特征存在明显的差异性和多样性。土壤水分时空变异是由多重尺度上的土地利用（植被）、气象（降雨）、地形、土壤、人为活动等诸因子综合作用的结果,但就其某一具体地区而言存在着重点尺度和主控因子,土壤水分时空变异的重点尺度与主控因子的时空关系因时间、空间和尺度而异。本文综述了土壤水分（尤其是黄土高原地区）的时空变异与其环境因子时空关系的研究进展,并提出了广眨开展多重时空尺度上土壤水分的时空变异与其诸因素的时空关系,研究土壤水分时空变异性的尺度转换规律,确定重点尺度及其相应的主控因子。     

Relationships between spatio-temporal environmental and genetic variation reveal an important influence of exogenous selection in a pupfish hybrid zone

The importance of exogenous selection in a natural hybrid zone between the pupfishes Cyprinodon atrorus and Cyprinodon bifasciatus was tested via spatio‐temporal analyses of environmental and genetic change over winter, spring and summer for three consecutive years. A critical influence of exogenous selection on hybrid zone regulation was demonstrated by a significant relationship between environmental (salinity and temperature) and genetic (three diagnostic nuDNA loci) variation over space and time (seasons) in the Rio Churince system, Cuatro Ciénegas, Mexico. At sites environmentally more similar to parental habitats, the genetic composition of hybrids was stable and similar to the resident parental species, whereas complex admixtures of parental and hybrid genotypic classes characterized intermediate environments, as did the greatest change in allelic and genotypic frequencies across seasons. Within hybrids across the entire Rio Churince system, seasonal changes in allelic and genotypic frequencies were consistent with results from previous reciprocal transplant experiments, which showed C. bifasciatus to suffer high mortality (75%) when exposed to the habitat of C. atrorus in winter (extreme temperature lows and variability) and summer (abrupt salinity change and extreme temperature highs and variability). Although unconfirmed, the distributional limits of C. atrorus and C. atrorus‐like hybrids appear to be governed by similar constraints (predation or competition). The argument favouring evolutionary significance of hybridization in animals is bolstered by the results of this study, which links the importance of exogenous selection in a contemporary hybrid zone between C. atrorus and C. bifasciatus to previous demonstration of the long‐term evolutionary significance of environmental variation and introgression on the phenotypic diversification Cuatro Ciénegas Cyprinodon.     

Patterns of genetic variation in anthropogenically impacted populations

Genetic variation is considered critical for allowing natural populations to adapt to their changing environment, and yet the effects of human disturbance on genetic variation in the wild are poorly understood. Different types of human disturbances may genetically impact natural populations in a predictable manner and so the aim of this study was to provide an overview of these changes using a quantitative literature review approach. I examined both allozyme and microsatellite estimates of genetic variation from peer-reviewed journals, using the mean number of alleles per locus and expected heterozygosity as standardized metrics. Populations within each study were categorized according to the type of human disturbance experienced (“hunting/harvest”, “habitat fragmentation”, or “pollution”), and taxon-specific, as well as time- and context-dependent disturbance effects were considered. I found that human disturbances are associated with weak, but consistent changes in neutral genetic variation within natural populations. The direction of change was dependent on the type of human disturbance experienced, with some forms of anthropogenic challenges consistently decreasing genetic variation from background patterns (e.g., habitat fragmentation), whereas others had no effect (e.g., hunting/harvest) or even slightly increased genetic variation (e.g., pollution). These same measures appeared sensitive to both the time of origin and duration of the disturbance as well. This suggests that the presence or absence, strength, type, as well as the spatial and temporal scale of human disturbance experienced may warrant careful consideration when conservation management plans are formulated for natural populations, with particular attention paid to the effects of habitat fragmentation.     

Quantifying effects of environmental and geographical factors on patterns of genetic differentiation

Elucidating the factors influencing genetic differentiation is an important task in biology, and the relative contribution from natural selection and genetic drift has long been debated. In this study, we used a regression-based approach to simultaneously estimate the quantitative contributions of environmental adaptation and isolation by distance on genetic variation in Boechera stricta, a wild relative of Arabidopsis. Patterns of discrete and continuous genetic differentiation coexist within this species. For the discrete differentiation between two major genetic groups, environment has larger contribution than geography, and we also identified a significant environment-by-geography interaction effect. Elsewhere in the species range, we found a latitudinal cline of genetic variation reflecting only isolation by distance. To further confirm the effect of environmental selection on genetic divergence, we identified the specific environmental variables predicting local genotypes in allopatric and sympatric regions. Water availability was identified as the possible cause of differential local adaptation in both geographical regions, confirming the role of environmental adaptation in driving and maintaining genetic differentiation between the two major genetic groups. In addition, the environment-by-geography interaction is further confirmed by the finding that water availability is represented by different environmental factors in the allopatric and sympatric regions. In conclusion, this study shows that geographical and environmental factors together created stronger and more discrete genetic differentiation than isolation by distance alone, which only produced a gradual, clinal pattern of genetic variation. These findings emphasize the importance of environmental selection in shaping patterns of species-wide genetic variation in the natural environment.     

Naturally occurring genetic variation affects Drosophila photoreceptor determination

 The signal transduction pathway controlling determination of the identity of the R7 photoreceptor in the Drosophila eye is shown to harbor high levels of naturally occurring genetic variation. The number of ectopic R7 cells induced by the dosage-sensitive Sev ^S11.1 transgene that encodes a mildly activated form of the Sevenless tyrosine kinase receptor is highly sensitive to the wild-type genetic background. Phenotypes range from complete suppression to massive overproduction of photoreceptors that exceeds reported effects of known single gene modifiers, and are to some extent sex-dependent. Signaling from the dominant gain-of-function Drosophila Epidermal Growth Factor Receptor (DER-Ellipse) mutations is also sensitive to the genetic backgrounds, but there is no correlation with the effects on Sev ^S11.1 . This implies that different genes and/or alleles modify the two activated receptor genotypes. The evolutionary significance of the existence of high levels of genetic variation in the absence of normal phenotypic variation is discussed. Received: 20 September 1997 / Accepted: 10 November 1997     

Balancing selection response and rate of inbreeding by including genetic relationships in selection decisions

An iterative selection strategy, based on estimated breeding values (EBV) and average relationship among selected individuals, is proposed to optimise the balance between genetic response and inbreeding. Stochastic simulation was used to compare rates of inbreeding and genetic gain with those of other strategies. For a range of heritabilities, population sizes and mating ratios, the iterative strategy, denoted ADJEBV, outperforms other strategies, giving the greatest genetic gain at a given rate of inbreeding and the least breeding at a given genetic gain. Where selection is currently by truncation on the EBV, with a restriction on the number of full-sibs selected, it should be possible to maintain similar levels of genetic gain and inbreeding with a reduction in population size of 10–30%, by changing to the iterative strategy. If performance is measured by the reduction in cumulative inbreeding without losing more than a given amount of genetic gain relative to results obtained under truncation selection on the EBV, then with the EBV based on a family index, the performance of ADJEBV is greater at low heritability, and is generally greater than where EBV are based on individual records. When comparisons of genetic response and inbreeding are made for alternative breeding scheme designs, schemes which give higher genetic gain within acceptable inbreeding levels would usually be favoured. If comparisons are made on this basis, then the selection method used should be ADJEBV, which maximises the genetic gain for a given level of inbreeding. The results indicated that all selection strategies used to reduce inbreeding had very small effects on the variance of gain, and so differences in this respect are unlikely to affect choices among selection strategies. Selection criteria are recommended based on maximising a selection objective which specifies the desired balance between genetic gain and inbreeding.     

Estimation of heritability and genetic trend in populations at a physiological limit

Summary Limits on physiological processes, though perhaps unknown, must exist. The reported simulations evaluate the effect of a physiological limit on the estimation of genetic parameters and genetic progress. Simulation experiments reveal no change in the estimate of heritability, even for limits as restrictive as 1.5 phenotypic standard deviations above the population mean. However, estimates of additive genetic and environmental variance shrink as limits on performance increase in severity. Simulated physiological limits do not affect the rate of genetic progress. However, absolute measures of estimated genetic change are less than those predicted by response equations.     

Fitness and genetic variation of Viola calaminaria, an endemic metallophyte: implications of population structure and history

We investigated variations in genetic diversity and plant fitness in a rare endemic metallophyte of calamine soils, Viola calaminaria, in relation to population size, population connectivity and population history in order to evaluate and discuss potential conservation strategies for the species. Mean population genetic diversity (H(s) = 0.25) of V. calaminaria was similar to endemic non-metallophyte taxa. Twenty-one per cent of the genetic variation was partitioned among populations and a low (9%) but significant differentiation was found among geographical regions. Our results did not support the hypothesis that the acquisition of metal tolerance may result in reduced genetic diversity, and suggested that strict metallophytes do not exhibit higher inter-population differentiation resulting from scattered habitats. There were no relationships between population genetic diversity and population size. Significant correlations were found between plant fitness and (i) population size and (ii) connectivity index. Recently-founded populations exhibited the same level of genetic diversity as ancient populations and also possessed higher plant fitness. There was no indication of strong founder effects in recently-established populations. The results suggest that the creation of habitats through human activities could provide new opportunities for conservation of this species.     

Mate choice evolution, dominance effects, and the maintenance of genetic variation

Female mate choice influences the maintenance of genetic variation by altering the mating success of males with different genotypes. The evolution of preferences themselves, on the other hand, depends on genetic variation present in the population. Few models have tracked this feedback between a choice gene and its effects on genetic variation, in particular when genes that determine offspring viability and attractiveness have dominance effects. Here we build a population genetic model that allows comparing the evolution of various choice rules in a single framework. We first consider preferences for good genes and show that focused preferences for homozygotes evolve more easily than broad preferences, which allow heterozygous males high mating success too. This occurs despite better maintenance of genetic diversity in the latter scenario, and we discuss why empirical findings of superior mating success of heterozygous males consequently do not immediately lead to a better understanding of the lek paradox. Our results thus suggest that the mechanisms that help maintain genetic diversity also have a flipside of making female choice an inaccurate means of producing the desired kind of offspring. We then consider preferences for heterozygosity per se, and show that these evolve only under very special conditions. Choice for compatible genotypes can evolve but its selective advantage diminishes quickly due to frequency-dependent selection. Finally, we show that our model reproduces earlier results on selfing, when the female choice strategy produces assortative mating. Overall, our model indicates that various forms of heterozygote-favouring (or variable) female choice pose a problem for the theory of sexual ornamentation based on indirect benefits, rather than a solution.     

Additive genetic variation and the distribution of QTN effects among sites

Early quantitative genetic theories emphasize the distribution of gene effects at individual loci or the distribution of mutant effects in maintaining quantitative genetic variation, but infrequently stress the distribution of gene effects among loci. In this study, we analyse the effects of the distribution of quantitative trait nucleotides (QTN) effects among sites under artificial and stabilizing selection. Wright's formula is applied to describing the density distribution of allele frequencies of multiple diallelic QTN at the equilibrium of mutation-drift-selection. Our results demonstrate that the distribution of QTN effects among sites can affect additive genetic variation in terms of total additive variance, average gene diversity, per-class contribution of QTN effects and per-QTN contribution. When the distribution of QTN effects among sites is changed from L-shaped to bell-shaped or to be a flatter, both the total additive variance and the average gene diversity are changed. Per-class and per-QTN contributions exhibit different distribution patterns. The L-shaped distribution indicates the predominant role of the aggregative effects from the QTN of small finite effects. The bell-shaped or flatter distributions indicate the predominance of the QTN of intermediate and large effects. These predictions highlight the significance of the distribution of QTN effects among sites in interpreting the maintenance of quantitative genetic variation at the fine genome scale.