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PubMedDate not supplied

Heritability of phenolics in Quercus laevis inferred using molecular markers.

Studies of quantitative inheritance of phenotypes do not generally encompass the range of environmental conditions to which a population may be exposed in a natural setting and are rarely conducted on long-lived species due to the time required for traditional crossing experiments. We used a marker-based method to estimate relatedness with microsatellite markers in a natural population of a long-lived oak, then used this inferred relatedness to examine quantitative genetic variation in the concentration of foliar phenolics. Estimating heritability using this method requires both significant relatedness and variance in relatedness over distance. However, this population did not show significant variance of relatedness, so only the presence of heritability, and its ranking among traits and environments, could be estimated. Seven foliar phenolics showed a significant relationship between phenotypic similarity and relatedness. The significance of this relationship varied among individual phenolic compounds, as well as by season. Genetic factors appeared to have a more measurable influence on the production of secondary compounds early in the season. After leaf expansion, covariance of relatedness and phenotypic variance appear to become less significant. Therefore heritability may vary seasonally for these traits.

Genetic Heterogeneity↗
PubMed2003

Modification of heat-shock gene expression in Drosophila melanogaster populations via transposable elements.

We report multiple cases in which disruption of hsp70 regulatory regions by transposable element (TE) insertions underlies natural variation in expression of the stress-inducible molecular chaperone Hsp70 in Drosophila melanogaster. Three D. melanogaster populations from different continents are polymorphic for jockey or P element insertions in the promoter of the hsp70Ba gene. All three TE insertions are within the same 87-bp region of hsp70Ba promoter, and we suggest that the distinctive promoter architecture of hsp genes may make them vulnerable to TE insertions. Each of the TE insertions reduces Hsp70 levels, and RNase protection assays demonstrate that such insertions can reduce transcription of the hsp70Ba gene. In addition, the TEs alter two measures of organismal fitness, inducible thermotolerance and female reproductive success. Thus, transposition can create quantitative genetic variation in gene expression within populations, on which natural selection can act.

Analysis of Variance↗
PubMed2003

The epidemiology and iatrogenic transmission of hepatitis C virus in Egypt: a Bayesian coalescent approach.

Hepatitis C virus (HCV) is a leading cause of liver cancer and cirrhosis, and Egypt has possibly the highest HCV prevalence worldwide. In this article we use a newly developed Bayesian inference framework to estimate the transmission dynamics of HCV in Egypt from sampled viral gene sequences, and to predict the public health impact of the virus. Our results indicate that the effective number of HCV infections in Egypt underwent rapid exponential growth between 1930 and 1955. The timing and speed of this spread provides quantitative genetic evidence that the Egyptian HCV epidemic was initiated and propagated by extensive antischistosomiasis injection campaigns. Although our results show that HCV transmission has since decreased, we conclude that HCV is likely to remain prevalent in Egypt for several decades. Our combined population genetic and epidemiological analysis provides detailed estimates of historical changes in Egyptian HCV prevalence. Because our results are consistent with a demographic scenario specified a priori, they also provide an objective test of inference methods based on the coalescent process.

Bayes Theorem↗
PubMed1993

Detection of 6-thioguanine-resistant human peripheral blood lymphocytes using 5-bromodeoxyuridine labeling in combination with immunocytochemical staining.

Measurement of frequencies of 6-thioguanine-resistant (TGr) human peripheral lymphocytes may contribute to quantitative genetic risk assessment in occupationally or environmentally exposed human populations. A simple procedure for the detection of TGr human peripheral blood lymphocytes was developed in our laboratory, using whole blood culturing and 5-bromodeoxyuridine (BrdU) labeling in combination with immunocytochemical staining. Modifications of the procedure designed to reduce the false positive effects of spontaneously cycling lymphocytes (phenocopies), and to optimize duration of BrdU labeling and the culturing period, were evaluated. A standard procedure was developed which applied 24 h cold storage of the diluted heparinized blood (1:10, v:v in RPMI 1640 medium) at 4 degrees C to reduce the effect of spontaneously cycling lymphocytes, and whole blood culturing in RPMI 1640 complete medium with stimulation of T lymphocytes using phytohemagglutinin (PHA), selection of TGr lymphocytes by adding TG to a final concentration of 2 x 10(-4) M and, after 24 h of incubation, labeling of TGr lymphocytes with 2.5 x 10(-5) M BrdU during 16 h. Using this standard procedure, frequencies of TGr cells in 45 healthy individuals (aged 21-64) were observed to range from 0.3 to 229.8 x 10(-6), with a mean variant frequency (VF) (+/- SD) of 136 x 10(-6) (+/- 35.8). After exclusion of the one extremely high value of 229.8 x 10(-6), mean VF was 8.7 x 10(-6) (+/- 14.1). A significant inverse correlation was found between logVF and the labeling index of control cultures (LIc), indicating that cultures with low LIc tend to yield higher VF.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMedDate not supplied

Genes associated with leukocyte production in mice.

We have investigated the genes influencing leukocyte production in mice by selective breeding for differences in leukocyte count and developed two major lines differing about 8-fold. In these lines we have made counter selective breeding, crossbreeding between them, and developed methods of using marker genes to search for individual genes distributed on different chromosomes. We have revealed an overall dominance of genes for low leukocyte count over those for high counts, and effects of genes at the agouti locus, certain mutant genes, and a gene or genes in the XVI linkage group. We have commented on the application and approach of quantitative genetic experimentation from both a theoretical and practical point of view and, on the basis of present results, discussed the nature of polygenes in relation to genes causing polymorphisms.

Animals↗
PubMedDate not supplied

Quantitative wing variation in inbred and outbred lines of Drosophila melanogaster.

Variation of two wing morphology characters was studied in 11 X-chromosome substitution lines and three outbred lines of D. melanogaster, as a test of quantitative genetic predictions regarding variance components and heritabilities. As expected from inbreeding of the lines, between-lines components of phenotypic variance are statistically significant, while the significant within-line component is attributable to a maternal effect. Unusually low broad-sense heritabilities were observed in the inbred lines, and unusually low narrow-sense heritabilities were observed in the outbred lines. Low heritability estimates cannot be explained by insensitive measurement techniques, since the techniques were sufficiently sensitive to detect significant maternal effects. The most likely explanation for the low heritability estimates is the operation of natural selection on wing or correlated characters as stocks adapt to the laboratory environment.

Animals↗
PubMed2004

Heritability of ambulatory and office blood pressure phenotypes in Swedish families.

OBJECTIVE: The aim of this study was to estimate the heritability of 24-h ambulatory blood pressure and office blood pressure phenotypes in Swedish families. METHODS: We measured ambulatory and office blood pressure in 260 siblings without antihypertensive treatment from 118 families. Blood pressure heritability was estimated using standard quantitative genetic variance component analysis implemented in the 'SOLAR' software package after adjustment for significant covariates. RESULTS: Heritability values were significant for night-time systolic (37%), diastolic (32%) and mean (32%) ambulatory blood pressure (P < 0.05 for all). During daytime, systolic ambulatory blood pressure was significantly heritable (33%, P < 0.05). Twenty-four-hour systolic (30%) and diastolic (29%) ambulatory blood pressure also had significant values of heritability (P < 0.05). Pulse pressure ambulatory blood pressure was significantly heritable over 24 h (63%, P < 0.01), during daytime (53%, P < 0.01) and at night (34%, P < 0.05). None of the office blood pressure phenotypes had a significant heritability. CONCLUSIONS: We conclude that ambulatory blood pressure, in particular at night, seems better than office blood pressure to capture the heritable part of blood pressure, suggesting that ambulatory blood pressure may be a more exact estimate of an individual's true blood pressure. Genetic studies using ambulatory blood pressure as the phenotype are likely to be more powerful than those using office blood pressure. The high heritability of pulse pressure ambulatory blood pressure indicates that variation in arterial stiffness in subjects free from antihypertensive medication is strongly affected by genetic factors.

Adult↗
PubMed1998

Familial brain wave patterns: study of a 12-sib family.

In the sense of a paradigm for the heritability of complex psychiatric disorders, we compared the brain wave patterns of a 12-sib family with those of 144 unrelated controls and with those of 14 pairs of monozygotic twins. Under constant experimental conditions, electroencephalogram (EEG) parameters generally displayed a broad range of inter-individual differences, but were also remarkably stable over time within each subject, thus suggesting that the variation of EEG parameters forms a continuous phenotypic range rather than discrete phenotype classes. The distributions of all EEG parameters were found to be unimodal but significantly different from a normal distribution. Although an unimodal distribution speaks in favor of a polygenic additive mode of inheritance, this may not necessarily be true. Our findings might reflect the fact that a symmetric environmental distribution is converted through the underlying genotypes' norm of reaction into an asymmetric phenotype distribution. On the other hand, the distributions of the power-related EEG parameters were not that clearly unimodal, and with a larger sample size a trimodal solution might have become significant. With respect to the between-sib EEG similarity, we found the empirically derived value to be approximately half that of the within-subject similarity at 14-day intervals and of the within-pair similarity of monozygotic twins. This finding confirmed earlier results on monozygotic twins brought up together and reared apart, concerning the estimated value of h2. All in all, the EEG paradigm has clearly demonstrated that the methods of quantitative genetics represent a powerful tool once phenotypes designed to assess the variation of a trait are based on dimensional quantities.

Action Potentials↗
PubMed2000

Male killing can select for male mate choice: a novel solution to the paradox of the lek.

In lekking species, intense directional selection is applied to aspects of the male genotype by female choice. Under conventional quantitative genetics theory, the expectation is that this will lead to a rapid loss in additive genetic variance for the trait in question. However, despite female choice, male variation is maintained and hence it pays females to continue choosing. This has been termed the 'paradox of the lek'. Here we present a theoretical analysis of a putative sex-role-reversed lek in the butterfly Acraea encedon. Sex-role reversal appears to have come about because of infection with a male-killing Wolbachia. The bacterium is highly prevalent in some populations, such that there is a dearth of males. Receptive females form dense aggregations, and it has been suggested that males preferentially select females uninfected with the bacterium. As with more conventional systems, this presents a theoretical problem exactly analogous to the lek paradox, namely what maintains female variation and hence why do males continue to choose? We model the evolution of a male choice gene that allows discrimination between infected and uninfected females, and show that the stable maintenance of both female variation and male choice is likely, so long as males make mistakes when discriminating between females. Furthermore, our model allows the maintenance, in a panmictic population, of a male killer that is perfectly transmitted. This is the first model to allow this result, and may explain the long-term persistence of a male killer in Hypolimnas bolina.

Animals↗
PubMed2001

The evolution of female mate choice by sexual conflict.

Although empirical evidence has shown that many male traits have evolved via sexual selection by female mate choice, our understanding of the adaptive value of female mating preferences is still very incomplete. It has recently been suggested that female mate choice may result from females evolving resistance rather than attraction to males, but this has been disputed. Here, we develop a quantitative genetic model showing that sexual conflict over mating indeed results in the joint evolution of costly female mate choice and exaggerated male traits under a wide range of circumstances. In contrast to tradition explanations of costly female mate choice, which rely on indirect genetic benefits, our model shows that mate choice can be generated as a side-effect of females evolving to reduce the direct costs of mating.

Animals↗
PubMed2002

The mechanisms of morph determination in the amphipod Jassa: implications for the evolution of alternative male phenotypes.

The proximal basis for and the maintenance of alternative male reproductive strategies and tactics are generally not understood in most species, despite the occurrence of male polymorphism across many taxa. In the marine amphipod Jassa marmorata, males differ in morphology as well as behaviour. This dimorphism corresponds to two contrasting reproductive strategies: small sneaker males or 'minors', and large fighter males or 'majors'. This study uses quantitative genetic analyses in conjunction with experimental manipulations to assess the relative importance of genetic versus environmental factors in the determination and maintenance of these alternative mating strategies. Heritability analyses indicated the reproductive phenotypes do not reflect genetic differences between dimorphic males. By contrast, morph determination was significantly affected by diet quality. Majors essentially only developed on high-protein diets. Field studies also identified a strong correlation between seasonal shifts in the relative proportions of morphs and changes in food (i.e. phytoplankton) quantity and composition, corroborating that diet cues the switch between alternative reproductive tactics. Moreover, the comparison of major and minor growth trajectories identified a heterochronic shift in maturation times between morphs, indicating that ecological selective pressures, rather than just sexual selection, may be involved in the maintenance of this conditional strategy.

Amphipoda↗
PubMed2004

Quantitative evolutionary genomics: differential gene expression and male reproductive success in Drosophila melanogaster.

We combined traditional quantitative genetics and oligonucleotide microarrays to examine within-population genetic variation in a trait closely related to fitness. The trait, male reproductive success under competitive conditions (MCRS), is of central importance to both life-history and sexual-selection theory. We identified 27 candidate genes whose expression levels were associated with within-population variation in MCRS. "High" MCRS was associated with low expression of a cytochrome P450 that causes pesticide resistance, suggesting a fitness cost to resistance. Two groups of metabolic proteins (glutathione transferases and phosphatases) were significantly over-represented, and a large portion of the candidates are genes involved in oxidative stress resistance, energy acquisition or energy storage. Genes expressed in accessory glands and testes were not over-represented among differentially expressed genes, but testis-expressed genes were significantly more likely to be upregulated in high MCRS genotypes. Finally, nine candidate genes that we identified had no previous functional annotation, and this experiment suggests that they play a role in male reproductive success.

Animals↗
PubMed2005

Genotypic probabilities for pairs of inbred relatives.

Expressions for the joint genotypic probabilities of two related individuals are used in many population and quantitative genetic analyses. These expressions, resting on a set of 15 probabilities of patterns of identity by descent among the four alleles at a locus carried by the relatives, are generally well known. There has been recent interest in special cases where the two individuals are both related and inbred, although there have been differences among published results. Here, we return to the original 15-probability treatment and show appropriate reductions for relatives when they are drawn from a population that itself is inbred or when the relatives have parents who are related. These results have application in affected-relative tests for linkage, and in methods for interpreting forensic genetic profiles.

Breeding↗
PubMed2005

Auxin and light control of adventitious rooting in Arabidopsis require ARGONAUTE1.

Adventitious rooting is a quantitative genetic trait regulated by both environmental and endogenous factors. To better understand the physiological and molecular basis of adventitious rooting, we took advantage of two classes of Arabidopsis thaliana mutants altered in adventitious root formation: the superroot mutants, which spontaneously make adventitious roots, and the argonaute1 (ago1) mutants, which unlike superroot are barely able to form adventitious roots. The defect in adventitious rooting observed in ago1 correlated with light hypersensitivity and the deregulation of auxin homeostasis specifically in the apical part of the seedlings. In particular, a clear reduction in endogenous levels of free indoleacetic acid (IAA) and IAA conjugates was shown. This was correlated with a downregulation of the expression of several auxin-inducible GH3 genes in the hypocotyl of the ago1-3 mutant. We also found that the Auxin Response Factor17 (ARF17) gene, a potential repressor of auxin-inducible genes, was overexpressed in ago1-3 hypocotyls. The characterization of an ARF17-overexpressing line showed that it produced fewer adventitious roots than the wild type and retained a lower expression of GH3 genes. Thus, we suggest that ARF17 negatively regulates adventitious root formation in ago1 mutants by repressing GH3 genes and therefore perturbing auxin homeostasis in a light-dependent manner. These results suggest that ARF17 could be a major regulator of adventitious rooting in Arabidopsis.

Arabidopsis↗
PubMed2004

Efficient regression analysis with ranked-set sampling.

This article is motivated by a lung cancer study where a regression model is involved and the response variable is too expensive to measure but the predictor variable can be measured easily with relatively negligible cost. This situation occurs quite often in medical studies, quantitative genetics, and ecological and environmental studies. In this article, by using the idea of ranked-set sampling (RSS), we develop sampling strategies that can reduce cost and increase efficiency of the regression analysis for the above-mentioned situation. The developed method is applied retrospectively to a lung cancer study. In the lung cancer study, the interest is to investigate the association between smoking status and three biomarkers: polyphenol DNA adducts, micronuclei, and sister chromatic exchanges. Optimal sampling schemes with different optimality criteria such as A-, D-, and integrated mean square error (IMSE)-optimality are considered in the application. With set size 10 in RSS, the improvement of the optimal schemes over simple random sampling (SRS) is great. For instance, by using the optimal scheme with IMSE-optimality, the IMSEs of the estimated regression functions for the three biomarkers are reduced to about half of those incurred by using SRS.

Biometry↗
PubMed2000

Reproductive costs of heat shock protein in transgenic Drosophila melanogaster.

Senescence may evolve when genes have antagonistic effects between early reproduction and later age-specific mortality. Although widely consistent with data of quantitative genetics, this model has yet to be validated with the identification of a specific locus presenting such trade-offs. The molecular chaperone hsp70 may be a candidate for such a gene. Heat induced expression of the Hsp70 protein in adults decreases rates of age-specific mortality during normal aging, while maternally experienced heat shock depresses the production of mature progeny. Here we show that maternal heat shock reduces the proportion of egg hatch but not the viability of successfully hatched offspring. To assess whether heat induced maternal expression of hsp70 causes reduced egg hatch, we measured the proportion of eggs that hatch from females engineered to overexpress hsp70 transgenes. We used the same transgenic strains that extend longevity upon hsp70 expression and found that Hsp70 is sufficient to suppress egg hatch. The proportion of egg hatch as a function of hsp70 expression was not reduced in the first eggs laid after maternal heat shock, but appears in later laid eggs, which were at preoogenic and early vitellogenic stages during the maternal expression of hsp70. The contervailing effects of hsp70 upon fecundity and subsequent age-specific mortality exemplify antagonistic pleiotropy, and this trade-off could contribute to the evolution of Drosophila senescence.

Animals↗
PubMed2003

Lifetime selection on heritable life-history traits in a natural population of red squirrels.

Despite their importance in evolutionary biology, heritability and the strength of natural selection have rarely been estimated in wild populations of iteroparous species or have usually been limited to one particular event during an organism's lifetime. Using an animal-model restricted maximum likelihood and phenotypic selection models, we estimated quantitative genetic parameters and the strength of lifetime selection on parturition date and litter size at birth in a natural population of North American red squirrels, Tamiasciurus hudsonicus. Litter size at birth and parturition date had low heritabilities (h2 = 0.15 and 0.16, respectively). We considered potential effects of temporal environmental covariances between phenotypes and fitness and of spatial environmental heterogeneity in estimates of selection. Selection favored early breeders and females that produced litter sizes close to the population average. Stabilizing selection on litter size at birth may occur because of a trade-off between number of offspring produced per litter and offspring survival or a trade-off between a female's fecundity and her future reproductive success and survival.

Age Factors↗
PubMed2003

Coevolution of an avian host and its parasitic cuckoo.

We use a quantitative genetic model to examine the coevolution of host and cuckoo egg characters (termed "size" as a proxy for general appearance), host discrimination, and host and cuckoo population dynamics. A host decides whether to discard an egg using a comparison of the sizes of the eggs in her nest, which changes as host and cuckoo eggs evolve. Specifically, we assume that the probability that she discards the largest egg in her nest depends on how much larger it is than the second largest egg. This decision rule (i.e., the acceptable difference in egg sizes) also evolves, changing both the chance of successful rejection of a cuckoo egg in parasitized nests and the chance of mistaken rejection of a host egg in both parasitized and unparasitized nests. We find a stable equilibrium for coexistence of the host and cuckoo where there is cuckoo egg mimicry, evolutionary displacement of the host egg away from the cuckoo egg phenotype, and host discrimination against unusual eggs. Both host discrimination and host egg displacement are fairly weak at the equilibrium. Cuckoo egg mimicry, although imperfect, usually evolves more extensively and quickly than the responses of the host. Our model provides evidence for both the evolutionary equilibrium and evolutionary lag hypotheses of host acceptance of parasitic eggs.

Animals↗