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Genetic Effects (genetic + effects)
Kinds of Genetic Effects Selected AbstractsGenetic Effects of Multiple Generations of Supportive BreedingCONSERVATION BIOLOGY, Issue 6 2001Jinliang Wang This procedure is intended to increase population size without introducing exogenous genes into the managed population. Previous work examining the genetic effects of a single generation of supportive breeding has shown that although a successful program increases the census population size, it may reduce the genetically effective population size and thereby induce excessive inbreeding and loss of genetic variation. We expand and generalize previous analyses of supportive breeding and consider the effects of multiple generations of supportive breeding on rates of inbreeding and genetic drift. We derived recurrence equations for the inbreeding coefficient and coancestry, and thereby equations for inbreeding and variance effective sizes, under three models for selecting captive breeders: at random, preferentially among those born in captivity, and preferentially among those born in the wild. Numerical examples indicate that supportive breeding, when carried out successfully over multiple generations, may increase not only the census but also the effective size of the supported population as a whole. If supportive breeding does not result in a substantial and continuous increase of the census size of the breeding population, however, it might be genetically harmful because of elevated rates of inbreeding and genetic drift. Resumen: La práctica de apoyar poblaciones silvestres débiles mediante la captura de una fracción de los individuos silvestres, su cautiverio para la reproducción y la liberación a su descendencia en habitas naturales para que convivan con organismos silvestres se conoce como reproducción de apoyo y se ha empleado ampliamente en la biología de la conservación y en el manejo de pesca y vida silvestre. Este procedimiento tiene la intención de incrementar el tamaño de la población sin introducir genes exógenos en la población bajo manejo. Trabajos previos sobre los efectos genéticos de una sola generación de reproducción de apoyo muestran que, aunque un programa exitoso incrementa el tamaño poblacional, puede reducir la población genéticamente efectivae inducir así un exceso de consanguinidad y pérdida de variación genética. Expandimos y generalizamos análisis previos de la reproducción de apoyo y consideramos los efectos de múltiples generaciones de reproducción de soporte en las tasas de consanguinidad y de deriva génica. Derivamos ecuaciones de recurrencia para el coeficiente de consanguinidad y de coancestría, y por tanto ecuaciones de tamaños efectivos de consanguinidad y de varianza, para tres modelos de selección de reproductores en cautiverio : aleatoria, preferentemente entre los nacidos en cautiverio y preferentemente entre los nacidos en libertad. Los ejemplos numéricos indican que la reproducción de apoyo, cuando es exitosa en múltiples generaciones, puede ser favorable para el incremento no solo del tamaño, sino del tamaño efectivo de la población soportada en su conjunto. Sin embargo, si la reproducción de soporte no resulta en un incremento sustancial y continuo del tamaño de la población, puede ser genéticamente dañina debido a las altas tasas de consanguinidad y de deriva genética. [source] Book review: Genetic Effects on Environmental Vulnerability to Disease., Number 293AMERICAN JOURNAL OF HUMAN BIOLOGY, Issue 1 2010Erika Von Mutius No abstract is available for this article. [source] RELATIVE CONTRIBUTION OF ADDITIVE, DOMINANCE, AND IMPRINTING EFFECTS TO PHENOTYPIC VARIATION IN BODY SIZE AND GROWTH BETWEEN DIVERGENT SELECTION LINES OF MICEEVOLUTION, Issue 5 2009Reinmar Hager Epigenetic effects attributed to genomic imprinting are increasingly recognized as an important source of variation in quantitative traits. However, little is known about their relative contribution to phenotypic variation compared to those of additive and dominance effects, and almost nothing about their role in phenotypic evolution. Here we address these questions by investigating the relative contribution of additive, dominance, and imprinting effects of quantitative trait loci (QTL) to variation in "early" and "late" body weight in an intercross of mice selected for divergent adult body weight. We identified 18 loci on 13 chromosomes; additive effects accounted for most of the phenotypic variation throughout development, and imprinting effects were always small. Genetic effects on early weight showed more dominance, less additive, and, surprisingly, less imprinting variation than that of late weight. The predominance of additivity of QTL effects on body weight follows the expectation that additive effects account for the evolutionary divergence between selection lines. We hypothesize that the appearance of more imprinting effects on late body weight may be a consequence of divergent selection on adult body weight, which may have indirectly selected for alleles showing partial imprinting effects due to their associated additive effects, highlighting a potential role of genomic imprinting in the response to selection. [source] Reduced reproductive success and offspring survival in fragmented populations of the forest herb Phyteuma spicatumJOURNAL OF ECOLOGY, Issue 6 2005ANNETTE KOLB Summary 1Habitat fragmentation, which reduces the size and increases the isolation of populations, is a major threat to biodiversity. For Phyteuma spicatum, a self-incompatible, rare understorey herb in deciduous forests of north-western Germany, I tested the hypotheses that: (i) fitness (in terms of reproductive success) is reduced in small or isolated populations, (ii) reproduction in small populations is reduced by pollen limitation and (iii) genetic effects cause fitness reductions in small populations. 2I compared the reproductive success of plants of Phyteuma in 14 populations of different size and degree of isolation. Seed production was, as predicted, positively related to population size but was also influenced by plant size, although not by population isolation, density or habitat quality. 3I performed supplemental hand-pollinations in 10 of the 14 populations using pollen from the same population (test for pollen quantity) or from another large population (pollen quality). The proportional difference in seed production between hand-pollinated plants and open-pollinated controls increased with decreasing population size, indicating pollinator limitation of reproduction in small populations. There was no difference between the two hand-pollination treatments, suggesting that a sufficient number of cross-compatible mates was available even in the smallest populations. 4Progeny from the 14 populations were grown for 32 weeks in a common environment. There was no effect of population size on germination, but final seedling survival was positively related to population size, and this relationship was more pronounced in the glasshouse than under more favourable growing conditions in a common garden. Genetic effects may thus reduce fitness (here measured in terms of survival) in plants from small populations, making them more susceptible to environmental stress. 5The results suggest that both reproduction and offspring performance may be reduced in small populations even of long-lived species such as Phyteuma spicatum. Different processes, such as pollen limitation and genetic deterioration, may interact and affect local population dynamics and the persistence of species in fragmented landscapes. [source] Heritability of diurnal type: a nationwide study of 8753 adult twin pairsJOURNAL OF SLEEP RESEARCH, Issue 2 2007MARKKU KOSKENVUO Summary Twin studies suggest a genetic component in diurnal types. In 1981, a questionnaire sent to the Older Finnish Twin Cohort yielded responses from 2836 adult monozygotic (MZ) and 5917 like-sexed dizygotic (DZ) twin pairs with four category self-report on diurnal type. We used structural equation modelling to estimate genetic and environmental components of variance in morningness and eveningness. The model fitting was best when the morningness and the eveningness were analysed together. The ADE-model (including additive genetic, dominant genetic and non-shared environmental effects) fitted best to the data. ADE-models for men and women separately did not differ in a statistically significant manner from the combined model, and similarly ADE-models for young and old age groups separately did not differ either. The estimate for overall genetic effect (broad sense heritability) was 49.7% (95% confidence interval 46.4,52.8), with the remainder accounted for by environmental factors not shared by siblings. The variance component estimates for the underlying liability to diurnal type were 11.7% (95% CI 0,23.7) for additive genetic factors, 38.0% (24.7,51.3) for genetic factors due to dominance. Genetic effects thus account for about one-half of the interindividual variability in diurnal type in adults. [source] Genetic effects of the soft starch (h) and background loci on volume of starch granules in five inbreds of maizePLANT BREEDING, Issue 2 2000J. A. Wilson Abstract Larger particle volume is beneficial for many aspects of maize starch processing, and may improve the performance of some starch attributes. This study focused on the soft starch (h) locus to identify its potentially influential role in starch particle volume distribution. The objectives were to study the genetic expression of starch particle volume of the h locus in different genetic backgrounds and the gene action conditioning starch particle volume of other loci in both normal-starch and h -starch backgrounds. Forty-five populations (five intra-inbred F1s, 10 hybrid F1s 10 F2s, 10 BC1F1s to h/h parent, and 10 BC1 to h:h conversion of normal parent) were planted in 1993 at two locations and in 1995 at one location. Selfed heterozygotes (±/h) in all generations provided intra-ear comparisons of normal and h starch, and F3 and BC1F2 generations provided inter-ear comparisons. Significant differences were found between normal and h:h genotypes in all intra-ear and inter-ear comparisons. In all cases, general combining ability effects were highly significant, suggesting the presence of additive gene effects. Generation mean analysis of normal and h:h starch materials yielded similar results, indicating the predominance of additive and some dominance effects for other loci on starch particle volume. These results indicate the usefulness of the soft starch gene and additional genetic variation among inbreds in the improvement of starch particle volume for increased starch recovery in wet milling. [source] Genetic and environmental effects on the continuity of ejaculatory dysfunctionBJU INTERNATIONAL, Issue 12 2010Patrick Jern Study Type , Symptom prevalence (retrospective cohort) Level of Evidence 2b OBJECTIVES To investigate temporal continuity in ejaculatory dysfunction by comparing self-reported experiences of premature ejaculation (PE) at first intercourse with self-reported PE and delayed ejaculation at present, and to clarify whether and to what extent genetic or environmental factors affect continuity in ejaculatory dysfunction, as previous studies indicate moderate heritability for PE at first intercourse. SUBJECTS AND METHODS The study comprised retrospective self-reported data on ejaculatory performance at first sexual intercourse and a concurrent self-report of the same at the time of data collection in a population-based sample of 2633 Finnish twins and their siblings aged 18,48 years (mean 26.63, sd 4.68). The continuity of ejaculatory function was assessed by correlation and multiple regression. Reasons for continuity were separated into genetic and environmental sources using twin-model fitting. RESULTS Ejaculatory function, particularly PE, was stable over time. Genetic effects accounted for ,30% of the variance in PE both at first intercourse and when measured at data collection. Unshared environmental effects accounted for most of the variance (,70%). Genetic effects were almost identical between the sample occasions, but there was a substantial discrepancy between unshared environmental effects affecting PE at first intercourse and unshared environmental effects affecting PE later in life. Age effects were generally negligible. Data were self-reported and retrospective, and thus vulnerable to response bias. CONCLUSIONS Ejaculatory dysfunction seems to be temporally stable both in the short and long term. Genes that contribute to the variance in PE at first intercourse are similar to those that contribute to the variance in PE later in life, whereas there are, in this regard, substantial differences in the unshared environmental factors that are a cause of PE. [source] Phylogenetic Comparative Methods Strengthen Evidence for Reduced Genetic Diversity among Endangered TetrapodsCONSERVATION BIOLOGY, Issue 5 2010PATRICK A. FLIGHT evolución de la historia de vida; extinción; heterocigosidad de proteínas; regresión filogenética; tamaño poblacional efectivo Abstract:,The fitness of species with little genetic diversity is expected to be affected by inbreeding and an inability to respond to environmental change. Conservation theory suggests that endangered species will generally demonstrate lower genetic diversity than taxa that are not threatened. This hypothesis has been challenged because the time frame of anthropogenic extinction may be too fast to expect genetic factors to significantly contribute. I conducted a meta-analysis to examine how genetic diversity in 894 tetrapods correlates with extinction threat level. Because species are not evolutionarily independent, I used a phylogenetic regression framework to address this issue. Mean genetic diversity of tetrapods, as assessed by protein heterozygosity, was 29.7,31.5% lower on average in threatened species than in their nonthreatened relatives, a highly significant reduction. Within amphibians as diversity decreased extinction risk increased in phylogenetic models, but not in nonphylogenetic regressions. The effects of threatened status on diversity also remained significant after accounting for body size in mammals. These results support the hypothesis that genetic effects on population fitness are important in the extinction process. Resumen:,Se espera que la adaptabilidad de una especie con poca diversidad genética sea afectada por la endogamia y una incapacidad para responder a cambios ambientales. La teoría de la conservación sugiere que las especies en peligro generalmente muestran menor diversidad genética que taxa que no están amenazados. Esta hipótesis ha sido cuestionada porque el período de tiempo de la extinción antropogénica puede ser muy rápido para esperar que los factores genéticos contribuyan significativamente. Realice un meta-análisis para examinar cómo se correlaciona la diversidad genética de 894 tetrápodos con el nivel de amenaza de extinción. Debido a que las especies no son independientes evolutivamente, utilice un marco de regresión filogenética para abordar este tema. La media de la diversidad genética de tetrápodos, medida como la heterocigosidad de proteínas, fue 29.7,31.5% menor en las especies amenazadas que en sus parientes no amenazados, una reducción altamente significativa. En anfibios, a medida que disminuía la diversidad el riesgo de extinción incrementaba en los modelos filogenéticos, pero no en las regresiones no filogenéticas. El efecto del estatus de amenaza sobre la biodiversidad también permaneció significativo después de considerar el tamaño corporal de mamíferos. Estos resultados dan soporte a la hipótesis de que los efectos genéticos sobre la adaptabilidad de la población son importantes en el proceso de extinción. [source] Genetic Effects of Multiple Generations of Supportive BreedingCONSERVATION BIOLOGY, Issue 6 2001Jinliang Wang This procedure is intended to increase population size without introducing exogenous genes into the managed population. Previous work examining the genetic effects of a single generation of supportive breeding has shown that although a successful program increases the census population size, it may reduce the genetically effective population size and thereby induce excessive inbreeding and loss of genetic variation. We expand and generalize previous analyses of supportive breeding and consider the effects of multiple generations of supportive breeding on rates of inbreeding and genetic drift. We derived recurrence equations for the inbreeding coefficient and coancestry, and thereby equations for inbreeding and variance effective sizes, under three models for selecting captive breeders: at random, preferentially among those born in captivity, and preferentially among those born in the wild. Numerical examples indicate that supportive breeding, when carried out successfully over multiple generations, may increase not only the census but also the effective size of the supported population as a whole. If supportive breeding does not result in a substantial and continuous increase of the census size of the breeding population, however, it might be genetically harmful because of elevated rates of inbreeding and genetic drift. Resumen: La práctica de apoyar poblaciones silvestres débiles mediante la captura de una fracción de los individuos silvestres, su cautiverio para la reproducción y la liberación a su descendencia en habitas naturales para que convivan con organismos silvestres se conoce como reproducción de apoyo y se ha empleado ampliamente en la biología de la conservación y en el manejo de pesca y vida silvestre. Este procedimiento tiene la intención de incrementar el tamaño de la población sin introducir genes exógenos en la población bajo manejo. Trabajos previos sobre los efectos genéticos de una sola generación de reproducción de apoyo muestran que, aunque un programa exitoso incrementa el tamaño poblacional, puede reducir la población genéticamente efectivae inducir así un exceso de consanguinidad y pérdida de variación genética. Expandimos y generalizamos análisis previos de la reproducción de apoyo y consideramos los efectos de múltiples generaciones de reproducción de soporte en las tasas de consanguinidad y de deriva génica. Derivamos ecuaciones de recurrencia para el coeficiente de consanguinidad y de coancestría, y por tanto ecuaciones de tamaños efectivos de consanguinidad y de varianza, para tres modelos de selección de reproductores en cautiverio : aleatoria, preferentemente entre los nacidos en cautiverio y preferentemente entre los nacidos en libertad. Los ejemplos numéricos indican que la reproducción de apoyo, cuando es exitosa en múltiples generaciones, puede ser favorable para el incremento no solo del tamaño, sino del tamaño efectivo de la población soportada en su conjunto. Sin embargo, si la reproducción de soporte no resulta en un incremento sustancial y continuo del tamaño de la población, puede ser genéticamente dañina debido a las altas tasas de consanguinidad y de deriva genética. [source] BEHAVIOR GENETICS AND ANOMIE/STRAIN THEORYCRIMINOLOGY, Issue 4 2000ANTHONY WALSH Criminology is in need of conceptual revival, and behavior genetics can provide the concepts and research design to accomplish this. Behavior genetics is a biologically-friendly environmental discipline that often tells us more about environmental effects on individual traits than about genetic effects. Anomie/strain theory is used to illustrate the usefulness of behavior genetics to criminological theories. Behavior genetics examines the individual differences that sort people into different modes of adaptation and that lead them to cope constructively or destructively with strain. Behavior genetics and other biosocial perspectives have the potential to help illuminate Agnew's (1997) extension of General Strain Theory (GST) into the developmental realm. [source] Depression and obesity: do shared genes explain the relationship?DEPRESSION AND ANXIETY, Issue 9 2010Niloofar Afari Ph.D. Abstract Background: Studies have found a modest association between depression and obesity, especially in women. Given the substantial genetic contribution to both depression and obesity, we sought to determine whether shared genetic influences are responsible for the association between these two conditions. Methods: Data were obtained from 712 monozygotic and 281 dizygotic female twin pairs who are members of the community-based University of Washington Twin Registry. The presence of depression was determined by self-report of doctor-diagnosed depression. Obesity was defined as body mass index of ,30,kg/m2, based on self-reported height and weight. Generalized estimating regression models were used to assess the age-adjusted association between depression and obesity. Univariate and bivariate structural equation models estimated the components of variance attributable to genetic and environmental influences. Results: We found a modest phenotypic association between depression and obesity (odds ratio=1.6, 95% confidence interval=1.2,2.1). Additive genetic effects contributed substantially to depression (57%) and obesity (81%). The best-fitting bivariate model indicated that 12% of the genetic component of depression is shared with obesity. Conclusions: The association between depression and obesity in women may be in part due to shared genetic risk for both conditions. Future studies should examine the genetic, environmental, social, and cultural mechanisms underlying the relationship between this association. Depression and Anxiety, 2010. © 2010 Wiley-Liss, Inc. [source] Genetic Allee effects on performance, plasticity and developmental stability in a clonal plantECOLOGY LETTERS, Issue 6 2000M. Fischer Negative effects of small population size on fitness, so-called Allee effects, may threaten population persistence even in intact habitat remnants. We studied genotypes of 14 isolated populations of the clonal plant Ranunculus reptans, for which molecular genetic (RAPD-) variability is higher for large than for small populations. In a competition-free greenhouse environment vegetative offspring of genotypes from large populations produced more rosettes and flowers, indicating higher fitness. Within-genotype coefficients of variation in performance traits, indicating developmental instability, were lower for genotypes from populations with higher RAPD-variability. In competition with a taller grass, we found relative reduction in leaf length less pronounced for plants from large populations, suggesting higher adaptive plasticity. Our experimental study of a plant with predominantly vegetative reproduction suggests, that negative genetic effects of recent habitat fragmentation, which so far rather were expected in plants with frequent sexual reproduction, are more severe and more common than previously acknowledged. [source] Mate Choice for Genetic Benefits: Time to Put the Pieces TogetherETHOLOGY, Issue 1 2010Attila Hettyey It is thought that mate choice allows individuals to obtain genetic benefits for their offspring, and although many studies have found some support for this hypothesis, several critical questions remain unresolved. One main problem is that empirical studies on mate choice and genetic benefits have been rather piecemeal. Some studies (1) aimed to test how mate choice affects offspring fitness, but have not examined whether the benefits are because of genetic effects. Other studies tested whether mate choice provides (2) additive or (3) non-additive genetic benefits and only a few studies (4) considered these genetic effects together. Finally, some studies (5) examined whether the potential benefits that might be gained from mate choice are due to additive genetic effects vs. non-additive effects, and although they found evidence for both, they did not examine whether mate choice is relevant. Furthermore, previous studies have usually not controlled for non-genetic sources of variation in offspring fitness. Thus, there remain gaping holes in our understanding, and it is the connections among the research approaches that now need more attention. We suggest that studies are needed that measure non-genetic effects, the potential benefits from both additive and non-additive genetic effects, and also determine whether mate choice exploits these potential benefits. Such integrative studies are necessary to put the pieces together and clarify the role of genetic benefits in the evolution of mate choice. [source] GENETIC STUDY: The dopamine D4 Receptor (DRD4) gene exon III polymorphism, problematic alcohol use and novelty seeking: direct and mediated genetic effectsADDICTION BIOLOGY, Issue 2 2009Lara A. Ray ABSTRACT The present study sought to integrate convergent lines of research on the associations among the dopamine D4 receptor (DRD4) gene, novelty seeking and drinking behaviors with the overall goal of elucidating genetic influences on problematic drinking in young adulthood. Specifically, this study tested a model in which novelty seeking mediated the relationship between DRD4 variable number of tandem repeats (VNTR) genotype and problematic alcohol use. Participants (n = 90, 40 females) were heavy-drinking college students. Analyses using a structural equation modeling framework suggested that the significant direct path between DRD4 VNTR genotype and problematic alcohol use was reduced to a trend level in the context of a model that included novelty seeking as a mediator, thereby suggesting that the effects of DRD4 VNTR genotype on problematic alcohol use among heavy-drinking young adults were partially mediated by novelty seeking. Cross-group comparisons indicated that the relationships among the model variables were not significantly different in models for men versus women. These results extend recent findings of the association between this polymorphism of the DRD4 receptor gene, problematic alcohol use and novelty seeking. These findings may also help elucidate the specific pathways of risk associated with genetic influences on alcohol use and abuse phenotypes. [source] GENES WITH SOCIAL EFFECTS ARE EXPECTED TO HARBOR MORE SEQUENCE VARIATION WITHIN AND BETWEEN SPECIESEVOLUTION, Issue 7 2009Timothy A. Linksvayer The equilibrium sequence diversity of genes within a population and the rate of sequence divergence between populations or species depends on a variety of factors, including expression pattern, mutation rate, nature of selection, random drift, and mating system. Here, we extend population genetic theory developed for maternal-effect genes to predict the equilibrium polymorphism within species and sequence divergence among species for genes with social effects on fitness. We show how the fitness effects of genes, mating system, and genetic system affect predicted gene polymorphism. We find that, because genes with indirect social effects on fitness effectively experience weaker selection, they are expected to harbor higher levels of polymorphism relative to genes with direct fitness effects. The relative increase in polymorphism is proportional to the inverse of the genetic relatedness between individuals expressing the gene and their social partners that experience the fitness effects of the gene. We find a similar pattern of more rapid divergence between populations or species for genes with indirect social effects relative to genes with direct effects. We focus our discussion on the social insects, organisms with diverse indirect genetic effects, mating and genetic systems, and we suggest specific examples for testing our predictions with emerging sociogenomic tools. [source] INDIRECT GENETIC EFFECTS INFLUENCE ANTIPREDATOR BEHAVIOR IN GUPPIES: ESTIMATES OF THE COEFFICIENT OF INTERACTION PSI AND THE INHERITANCE OF RECIPROCITYEVOLUTION, Issue 7 2009Bronwyn H. Bleakley How and why cooperation evolves, particularly among nonrelatives, remains a major paradox for evolutionary biologists and behavioral ecologists. Although much attention has focused on fitness consequences associated with cooperating, relatively little is known about the second component of evolutionary change, the inheritance of cooperation or reciprocity. The genetics of behaviors that can only be expressed in the context of interactions are particularly difficult to describe because the relevant genes reside in multiple social partners. Indirect genetic effects (IGEs) describe the influence of genes carried in social partners on the phenotype of a focal individual and thus provide a novel approach to quantifying the genetics underlying interactions such as reciprocal cooperation. We used inbred lines of guppies and a novel application of IGE theory to describe the dual genetic control of predator inspection and social behavior, both classic models of reciprocity. We identified effects of focal strain, social group strain, and interactions between focal and group strains on variation in focal behavior. We measured ,, the coefficient of the interaction, which describes the degree to which an individual's phenotype is influenced by the phenotype of its social partners. The genetic identity of social partners substantially influences inspection behavior, measures of threat assessment, and schooling and does so in positively reinforcing manner. We therefore demonstrate strong IGEs for antipredator behavior that represent the genetic variation necessary for the evolution of reciprocity. [source] IS INBREEDING DEPRESSION LOWER IN MALADAPTED POPULATIONS?EVOLUTION, Issue 7 2009A QUANTITATIVE GENETICS MODEL Despite abundant empirical evidence that inbreeding depression varies with both the environment and the genotypic context, theoretical predictions about such effects are still rare. Using a quantitative genetics model, we predict amounts of inbreeding depression for fitness emerging from Gaussian stabilizing selection on some phenotypic trait, on which, for simplicity, genetic effects are strictly additive. Given the strength of stabilizing selection, inbreeding depression then varies simply with the genetic variance for the trait under selection and the distance between the mean breeding value and the optimal phenotype. This allows us to relate the expected inbreeding depression to the degree of maladaptation of the population to its environment. We confront analytical predictions with simulations, in well-adapted populations at equilibrium, as well as in maladapted populations undergoing either a transient environmental shift, or gene swamping in heterogeneous habitats. We predict minimal inbreeding depression in situations of extreme maladaptation. Our model provides a new basis for interpreting experiments that measure inbreeding depression for the same set of genotypes in different environments, by demonstrating that the history of adaptation, in addition to environmental harshness per se, may account for differences in inbreeding depression. [source] AGE-SPECIFIC GENETIC AND MATERNAL EFFECTS IN FECUNDITY OF PREINDUSTRIAL FINNISH WOMENEVOLUTION, Issue 9 2008Jenni E. Pettay A population's potential for evolutionary change depends on the amount of genetic variability expressed in traits under selection. Studies attempting to measure this variability typically do so over the life span of individuals, but theory suggests that the amount of additive genetic variance can change during the course of individuals' lives. Here we use pedigree data from historical Finns and a quantitative genetic framework to investigate how female fecundity, throughout an individual's reproductive life, is influenced by "maternal" versus additive genetic effects. We show that although maternal effects explain variation in female fecundity early in life, these effects wane with female age. Moreover, this decline in maternal effects is associated with a concomitant increase in additive genetic variance with age. Our results thus highlight that single over-lifetime estimates of trait heritability may give a misleading view of a trait's potential to respond to changing selection pressures. [source] A CENTENNIAL CELEBRATION FOR QUANTITATIVE GENETICSEVOLUTION, Issue 5 2007Derek A. Roff Quantitative genetics is at or is fast approaching its centennial. In this perspective I consider five current issues pertinent to the application of quantitative genetics to evolutionary theory. First, I discuss the utility of a quantitative genetic perspective in describing genetic variation at two very different levels of resolution, (1) in natural, free-ranging populations and (2) to describe variation at the level of DNA transcription. Whereas quantitative genetics can serve as a very useful descriptor of genetic variation, its greater usefulness is in predicting evolutionary change, particularly when used in the first instance (wild populations). Second, I review the contributions of Quantitative trait loci (QLT) analysis in determining the number of loci and distribution of their genetic effects, the possible importance of identifying specific genes, and the ability of the multivariate breeder's equation to predict the results of bivariate selection experiments. QLT analyses appear to indicate that genetic effects are skewed, that at least 20 loci are generally involved, with an unknown number of alleles, and that a few loci have major effects. However, epistatic effects are common, which means that such loci might not have population-wide major effects: this question waits upon (QTL) analyses conducted on more than a few inbred lines. Third, I examine the importance of research into the action of specific genes on traits. Although great progress has been made in identifying specific genes contributing to trait variation, the high level of gene interactions underlying quantitative traits makes it unlikely that in the near future we will have mechanistic models for such traits, or that these would have greater predictive power than quantitative genetic models. In the fourth section I present evidence that the results of bivariate selection experiments when selection is antagonistic to the genetic covariance are frequently not well predicted by the multivariate breeder's equation. Bivariate experiments that combine both selection and functional analyses are urgently needed. Finally, I discuss the importance of gaining more insight, both theoretical and empirical, on the evolution of the G and P matrices. [source] POPULATION DIFFERENTIATION IN THE BEETLE TRIBOLIUM CASTANEUM.EVOLUTION, Issue 3 2007We used joint-scaling analyses in conjunction with rearing temperature variation to investigate the contributions of additive, non-additive, and environmental effects to genetic divergence and incipient speciation among 12 populations of the red flour beetle, Tribolium castaneum, with small levels of pairwise nuclear genetic divergence (0.033 < Nei's D < 0.125). For 15 population pairs we created a full spectrum of line crosses (two parental, two reciprocal F1's, four F2's, and eight backcrosses), reared them at multiple temperatures, and analyzed the numbers and developmental defects of offspring. We assayed a total of 219,388 offspring from 5147 families. Failed crosses occurred predominately in F2's, giving evidence of F2 breakdown within this species. In all cases where a significant model could be fit to the data on offspring number, we observed at least one type of digenic epistasis. We also found maternal and cytoplasmic effects to be common components of divergence among T. castaneum populations. In some cases, the most complex model tested (additive, dominance, epistatic, maternal, and cytoplasmic effects) did not provide a significant fit to the data, suggesting that linkage or higher order epistasis is involved in differentiation between some populations. For the limb deformity data, we observed significant genotype-by-environment interaction in most crosses and pure parent crosses tended to have fewer deformities than hybrid crosses. Complexity of genetic architecture was not correlated with either geographic distance or genetic distance. Our results support the view that genetic incompatibilities responsible for postzygotic isolation, an important component of speciation, may be a natural but serendipitous consequence of nonadditive genetic effects and structured populations. [source] INBREEDING IN THE SEYCHELLES WARBLER: ENVIRONMENT-DEPENDENT MATERNAL EFFECTSEVOLUTION, Issue 9 2004David S. Richardson Abstract The deleterious effects of inbreeding can be substantial in wild populations and mechanisms to avoid such matings have evolved in many organisms. In situations where social mate choice is restricted, extrapair paternity may be a strategy used by females to avoid inbreeding and increase offspring heterozygosity. In the cooperatively breeding Seychelles warbler, Acrocephalus sechellensis, neither social nor extrapair mate choice was used to avoid inbreeding facultatively, and close inbreeding occurred in approximately 5% of matings. However, a higher frequency of extra-group paternity may be selected for in female subordinates because this did reduce the frequency of mating between close relatives. Inbreeding resulted in reduced individual heterozygosity, which, against expectation, had an almost significant (P= 0.052), positive effect on survival. Conversely, low heterozygosity in the genetic mother was linked to reduced offspring survival, and the magnitude of this intergenerational inbreeding depression effect was environment-dependent. Because we controlled for genetic effects and most environmental effects (through the experimental cross-fostering of nestlings), we conclude that the reduced survival was a result of maternal effects. Our results show that inbreeding can have complicated effects even within a genetic bottlenecked population where the "purging" of recessive alleles is expected to reduce the effects of inbreeding depression. [source] Restoration of sturgeons: lessons from the Caspian Sea Sturgeon Ranching ProgrammeFISH AND FISHERIES, Issue 3 2000D.H. Secor Depletion of sturgeon stocks world-wide has increased interest in aquaculture-based restoration programmes. The Caspian Sea Sturgeon Ranching Programme (SRP) of the former Soviet Union represents a unique opportunity to evaluate expense, benefits and potential ecological and genetic effects of such restoration programmes. The SRP was initiated in the 1950s to compensate for lost spawning habitat in the Volga River and elsewhere. After its completion in 1962, the Volgograd Dam reduced spawning grounds in the Volga River system, the principal spawning tributary of the Caspian Sea, by ,80%. For two of the three commercial sturgeon species (Russian sturgeon, Acipenser güldenstädti, and stellate sturgeon, A. stellatus), yields improved after the imposition of the 1962 moratorium on sturgeon harvests in the Caspian Sea. Volga River fisheries were managed for spawning escapement. Although imprecisely known, the contribution of the millions of stocked Russian and stellate juveniles during 1962,91 was most likely important to sustaining fisheries, although less so (contributing to <30% of the adult stock) than natural recruitment. Apparently, reduced spawning grounds, supplemented with artificial spawning reefs were sufficient to support reproduction and large fishery yields of Russian and stellate sturgeons. For beluga sturgeon, Huso huso, harvests in the Volga River were nearly all dependent upon hatchery stocking. Beluga sturgeon spawning grounds were mostly eliminated with the construction of the Volgograd Dam. Without the hatchery programme, beluga sturgeon in the Volga River and Caspian Sea would in all likelihood have been extirpated. Currently, sturgeons are severely depleted in the Volga River and Caspian Sea due to poaching and lack of co-operation between countries exploiting the species. Aquaculture-based restoration in Russia is now viewed a chief means of rebuilding stocks of Caspian Sea sturgeons. [source] Transgenic fish: an evaluation of benefits and risksFISH AND FISHERIES, Issue 2 2000N. Maclean Transgenic fish have many potential applications in aquaculture, but also raise concerns regarding the possible deleterious effects of escaped or released transgenic fish on natural ecosystems. In this review the potential applications of transgenic fish are considered, the probable benefits reviewed, the possible risks to the environment identified and the measures which might be taken to minimize these risks are evaluated. Growth trials of transgenic fish have already been carried out in outdoor facilities and some of these are discussed in the light of possible risks and benefits. Regarding the hazards associated with release or escape, whilst there is some evidence to suggest that transgenic fish may be less fit compared to their wild counterparts, there is insufficient evidence to say that this will be true in all cases. Using mathematical models, we have attempted to predict the magnitude of the genetic effects in a range of different scenarios. A number of possible containment techniques are considered, amongst which containment by sterility is probably the most promising. This can be engineered either by triploidy or by transgenic methods. The conclusions include a tabulated balance sheet of likely benefits and risks, with appropriate weighting. [source] Subtle gene,environment interactions driving paranoia in daily lifeGENES, BRAIN AND BEHAVIOR, Issue 1 2009C. J. P. Simons It has been suggested that genes impact on the degree to which minor daily stressors cause variation in the intensity of subtle paranoid experiences. The objective of the present study was to test the hypothesis that catechol- O -methyltransferase (COMT) Val158Met and brain-derived neurotrophic factor (BDNF) Val66Met in part mediate genetic effects on paranoid reactivity to minor stressors. In a general population sample of 579 young adult female twins, on the one hand, appraisals of (1) event-related stress and (2) social stress and, on the other hand, feelings of paranoia in the flow of daily life were assessed using momentary assessment technology for five consecutive days. Multilevel regression analyses were used to examine moderation of daily life stress-induced paranoia by COMT Val158Met and BDNF Val66Met genotypes. Catechol- O -methyltransferase Val carriers displayed more feelings of paranoia in response to event stress compared with Met carriers. Brain-derived neurotrophic factor Met carriers showed more social-stress-induced paranoia than individuals with the Val/Val genotype. Thus, paranoia in the flow of daily life may be the result of gene,environment interactions that can be traced to different types of stress being moderated by different types of genetic variation. [source] Association tests using kernel-based measures of multi-locus genotype similarity between individualsGENETIC EPIDEMIOLOGY, Issue 3 2010Indranil Mukhopadhyay Abstract In a genetic association study, it is often desirable to perform an overall test of whether any or all single-nucleotide polymorphisms (SNPs) in a gene are associated with a phenotype. Several such tests exist, but most of them are powerful only under very specific assumptions about the genetic effects of the individual SNPs. In addition, some of the existing tests assume that the direction of the effect of each SNP is known, which is a highly unlikely scenario. Here, we propose a new kernel-based association test of joint association of several SNPs. Our test is non-parametric and robust, and does not make any assumption about the directions of individual SNP effects. It can be used to test multiple correlated SNPs within a gene and can also be used to test independent SNPs or genes in a biological pathway. Our test uses an analysis of variance paradigm to compare variation between cases and controls to the variation within the groups. The variation is measured using kernel functions for each marker, and then a composite statistic is constructed to combine the markers into a single test. We present simulation results comparing our statistic to the U -statistic-based method by Schaid et al. ([2005] Am. J. Hum. Genet. 76:780,793) and another statistic by Wessel and Schork ([2006] Am. J. Hum. Genet. 79:792,806). We consider a variety of different disease models and assumptions about how many SNPs within the gene are actually associated with disease. Our results indicate that our statistic has higher power than other statistics under most realistic conditions. Genet. Epidemiol. 34: 213,221, 2010. © 2009 Wiley-Liss, Inc. [source] Examining the statistical properties of fine-scale mapping in large-scale association studiesGENETIC EPIDEMIOLOGY, Issue 3 2008Steven Wiltshire Abstract Interpretation of dense single nucleotide polymorphism (SNP) follow-up of genome-wide association or linkage scan signals can be facilitated by establishing expectation for the behaviour of primary mapping signals upon fine-mapping, under both null and alternative hypotheses. We examined the inferences that can be made regarding the posterior probability of a real genetic effect and considered different disease-mapping strategies and prior probabilities of association. We investigated the impact of the extent of linkage disequilibrium between the disease SNP and the primary analysis signal and the extent to which the disease gene can be physically localised under these scenarios. We found that large increases in significance (>2 orders of magnitude) appear in the exclusive domain of genuine genetic effects, especially in the follow-up of genome-wide association scans or consensus regions from multiple linkage scans. Fine-mapping significant association signals that reside directly under linkage peaks yield little improvement in an already high posterior probability of a real effect. Following fine-mapping, those signals that increase in significance also demonstrate improved localisation. We found local linkage disequiliptium patterns around the primary analysis signal(s) and tagging efficacy of typed markers to play an important role in determining a suitable interval for fine-mapping. Our findings help inform the interpretation and design of dense SNP-mapping follow-up studies, thus facilitating discrimination between a genuine genetic effect and chance fluctuation (false positive). Genet. Epidemiol. 2007. © 2007 Wiley-Liss, Inc. [source] Upward bias in odds ratio estimates from genome-wide association studiesGENETIC EPIDEMIOLOGY, Issue 4 2007Chad Garner Abstract Genome-wide association studies are carried out to identify unknown genes for a complex trait. Polymorphisms showing the most statistically significant associations are reported and followed up in subsequent confirmatory studies. In addition to the test of association, the statistical analysis provides point estimates of the relationship between the genotype and phenotype at each polymorphism, typically an odds ratio in case-control association studies. The statistical significance of the test and the estimator of the odds ratio are completely correlated. Selecting the most extreme statistics is equivalent to selecting the most extreme odds ratios. The value of the estimator, given the value of the statistical significance depends on the standard error of the estimator and the power of the study. This report shows that when power is low, estimates of the odds ratio from a genome-wide association study, or any large-scale association study, will be upwardly biased. Genome-wide association studies are often underpowered given the low , levels required to declare statistical significance and the small individual genetic effects known to characterize complex traits. Factors such as low allele frequency, inadequate sample size and weak genetic effects contribute to large standard errors in the odds ratio estimates, low power and upwardly biased odds ratios. Studies that have high power to detect an association with the true odds ratio will have little or no bias, regardless of the statistical significance threshold. The results have implications for the interpretation of genome-wide association analysis and the planning of subsequent confirmatory stages. Genet Epidemiol. 2007. © 2007 Wiley-Liss, Inc. [source] Simple estimates of haplotype relative risks in case-control dataGENETIC EPIDEMIOLOGY, Issue 6 2006Benjamin French Abstract Methods of varying complexity have been proposed to efficiently estimate haplotype relative risks in case-control data. Our goal was to compare methods that estimate associations between disease conditions and common haplotypes in large case-control studies such that haplotype imputation is done once as a simple data-processing step. We performed a simulation study based on haplotype frequencies for two renin-angiotensin system genes. The iterative and noniterative methods we compared involved fitting a weighted logistic regression, but differed in how the probability weights were specified. We also quantified the amount of ambiguity in the simulated genes. For one gene, there was essentially no uncertainty in the imputed diplotypes and every method performed well. For the other, ,60% of individuals had an unambiguous diplotype, and ,90% had a highest posterior probability greater than 0.75. For this gene, all methods performed well under no genetic effects, moderate effects, and strong effects tagged by a single nucleotide polymorphism (SNP). Noniterative methods produced biased estimates under strong effects not tagged by an SNP. For the most likely diplotype, median bias of the log-relative risks ranged between ,0.49 and 0.22 over all haplotypes. For all possible diplotypes, median bias ranged between ,0.73 and 0.08. Results were similar under interaction with a binary covariate. Noniterative weighted logistic regression provides valid tests for genetic associations and reliable estimates of modest effects of common haplotypes, and can be implemented in standard software. The potential for phase ambiguity does not necessarily imply uncertainty in imputed diplotypes, especially in large studies of common haplotypes. Genet. Epidemiol. 2006. © 2006 Wiley-Liss, Inc. [source] Robustness of inference on measured covariates to misspecification of genetic random effects in family studiesGENETIC EPIDEMIOLOGY, Issue 1 2003Ruth M.Pfeiffer Abstract Family studies to identify disease-related genes frequently collect only families with multiple cases. It is often desirable to determine if risk factors that are known to influence disease risk in the general population also play a role in the study families. If so, these factors should be incorporated into the genetic analysis to control for confounding. Pfeiffer et al. [2001 Biometrika 88: 933,948] proposed a variance components or random effects model to account for common familial effects and for different genetic correlations among family members. After adjusting for ascertainment, they found maximum likelihood estimates of the measured exposure effects. Although it is appealing that this model accounts for genetic correlations as well as for the ascertainment of families, in order to perform an analysis one needs to specify the distribution of random genetic effects. The current work investigates the robustness of the proposed model with respect to various misspecifications of genetic random effects in simulations. When the true underlying genetic mechanism is polygenic with a small dominant component, or Mendelian with low allele frequency and penetrance, the effects of misspecification on the estimation of fixed effects in the model are negligible. The model is applied to data from a family study on nasopharyngeal carcinoma in Taiwan. Genet Epidemiol 24:14,23, 2003. © 2003 Wiley-Liss, Inc. [source] Extension of variance components approach to incorporate temporal trends and longitudinal pedigree data analysisGENETIC EPIDEMIOLOGY, Issue 3 2002Mariza de Andrade Abstract Here we present a method that permits one to evaluate genetic effects and to detect genetic linkages by using serial observations of quantitative traits in pedigrees. We developed a statistical method that incorporates longitudinal family data and genetic marker information into an estimating equations framework. With this approach, we can study changes in components over time that measure polygenic and major genetic variances as well as shared and individual-specific environmental effects. Our method provides a measure of heritability from analysis of longitudinal data. Results using longitudinal family data from the Center for Preventive Medicine (Nancy, France) are presented. The results of our analysis show that the apolipoprotein E locus has no effect on interindividual variability in systolic blood pressure. We found that the longitudinal measure of heritability of systolic blood pressure is 0.32. Genet. Epidemiol. 22:221,232, 2002. © 2002 Wiley-Liss, Inc. [source] | |||||||||||||||||||||||||||||||||||||||||||