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Evolution and path models in human behavioral genetics.

The evolutionary implications of the path-analysis model most often used in human behavior genetics are examined. With directional selection, a model of pure vertical environmental transmission does not respond in a fully adaptive fashion. Unless the coefficients of transmission are exactly 0.50, the population mean will not equilibrate at the selective optimum over time. If there is both genetic and vertical environmental transmission, then the population mean can equilibrate at the selective optimum. In the presence of genetic transmission, vertical environmental transmission increases population fitness and has a strong effect on the rapid movement of the mean toward the selective optimum. This raises the intriguing paradox of why empirical evidence suggests that vertical environmental transmission is usually small when it possesses such important fitness properties.

Biological Evolution↗

Ecological bistability and evolutionary reversals under asymmetrical competition.

How does the process of life-history evolution interplay with population dynamics? Almost all models that have addressed this question assume that any combination of phenotypic traits uniquely determine the ecological population state. Here we show that if multiple ecological equilibria can exist, the evolution of a trait that relates to competitive performance can undergo adaptive reversals that drive cyclic alternation between population equilibria. The occurrence of evolutionary reversals requires neither environmentally driven changes in selective forces nor the coevolution of interactions with other species. The mechanism inducing evolutionary reversals is twofold. First, there exist phenotypes near which mutants can invade and yet fail to become fixed; although these mutants are eventually eliminated, their transitory growth causes the resident population to switch to an alternative ecological equilibrium. Second, asymmetrical competition causes the direction of selection to revert between high and low density. When ecological conditions for evolutionary reversals are not satisfied, the population evolves toward a steady state of either low or high abundance, depending on the degree of competitive asymmetry and environmental parameters. A sharp evolutionary transition between evolutionary stasis and evolutionary reversals and cycling can occur in response to a smooth change in ecological parameters, and this may have implications for our understanding of size-abundance patterns.

Animals↗

Elimination of marker genes from transgenic plants using MAT vector systems.

We have developed an efficient system (Multi-Auto-Transformation [MAT] vectors) for the removal of marker genes and to increase the regeneration frequency of transgenic crops without using antibiotic selection, reducing their possible environmental impact. The MAT vector system is designed to use the oncogenes (ipt, iaaM/H, rol) of Agrobacterium, which control the endogenous levels of plant hormones and the cell responses to plant growth regulators, to differentiate transgenic cells, and to select marker-free transgenic plants. The oncogenes are combined with the site-specific recombination system (R/RS). At transformation, the oncogenes regenerate transgenic plants and then are removed by the R/RS system to generate marker-free transgenic plants. The choice of a promoter for the oncogenes and the recombinase (R) gene, the state of plant materials and the tissue culture conditions greatly affect efficiency of both the regeneration of transgenic plants and the generation of marker-free plants. We have evaluated these conditions in several plant species to increase their generation efficiency. This chapter describes our transformation protocols using MAT vectors.

Cloning, Molecular↗

Strategies to protect biological diversity and the evolutionary processes that sustain it.

Conservation planning has tended to focus more on pattern (representation) than process (persistence) and, for the former, has emphasized species and ecosystem or community diversity over genetic diversity. Here I consider how best to incorporate knowledge of evolutionary processes and the distribution of genetic diversity into conservation planning and priority setting for populations within species and for biogeographic areas within regions. Separation of genetic diversity into two dimensions, one concerned with adaptive variation and the other with neutral divergence caused by isolation, highlights different evolutionary processes and suggests alternative strategies for conservation. Planning for both species and areas should emphasize protection of historically isolated lineages (Evolutionarily Significant Units) because these cannot be recovered. By contrast, adaptive features may best be protected by maintaining the context for selection, heterogeneous landscapes, and viable populations, rather than protecting specific phenotypes. A useful strategy may be to (1) identify areas that are important to represent species and (vicariant) genetic diversity and (2) maximize within these areas the protection of contiguous environmental gradients across which selection and migration can interact to maintain population viability and (adaptive) genetic diversity. These concepts are illustrated with recent results from analysis of a rainforest fauna from northeast Australia.

Animals↗

The argRB of Escherichia coli is rare in isolates obtained from natural sources.

A single nucleotide polymorphism between Escherichia coli strains K12 and B is known to alter the mechanism by which the arginine repressor regulates arginine biosynthesis, from a regulated system in E. coli K12 to a deregulated system in E. coli B. Laboratory experiments have demonstrated that the different regulatory strategies are selectively favored under different environmental conditions. In this study we analyzed 537 E. coli strains and show that the argR allele in E. coli B, which causes deregulation, is rare in isolates obtained from natural sources. Moreover, sequence analysis of 85 strains shows no evidence of selection at the arginine repressor locus. This illustrates that analysis of sequence data is insufficient to detect selection of uncommon alleles in rare environments.

Alleles↗

Evolutionary response to selection on clutch size in a long-term study of the mute swan.

Life-history traits in wild populations are often regarded as being subject to directional selection, and the existence of substantial variation and microevolutionary stasis of these characters is therefore a problem in need of explanation. Avian clutch size is an archetypal life-history trait in this context, and many studies have sought to test explanations for stasis in clutch size. Surprisingly, there are many fewer studies that used long-term data to ask how selection acts on clutch size, particularly in a multivariate framework. In this article, we report selection, inheritance, and evolution of clutch size over 25 years in a colony of mute swans using a multivariate quantitative genetic framework to control for correlations with breeding time. We show that clutch size is influenced by both additive genetic and permanent environmental effects and that selection acts on clutch size in combination with breeding time. Natural selection on clutch size is strongly directional, favoring larger clutches, and we observe an increase in clutch size of 0.35 standard deviations, consistent with the expected response based on selection and inheritance of clutch size. We hypothesize that these changes result from recent relaxation of food constraints and predation risks experienced by this colony.

Animals↗

High-performance liquid chromatography column switching applied to the trace determination of herbicides in environmental and drinking water samples.

A selective and sensitive coupled-column high-performance liquid chromatographic method is developed for the simultaneous determination of 5 phenylurea herbicides (monuron, linuron, isoproturon, monolinuron, and diuron) in environmental and drinking water samples. Sample clean-up is performed automatically by means of a column switching technique. Using 2 octadecyl silica columns connected via two programmable 6-port valves and ultraviolet detection at 244 nm, the aforementioned compounds can be determined at the low concentration levels required for pesticide residue analysis in water samples. A mobile phase consisting of a mixture of methanol-water (55:45, v/v) is pumped at 1 mL/min. For the 5 phenylureas, high recoveries ranging from 94.9 to 101.6%, good reproducibility with relative standard deviations lower than 5%, and wide linear ranges up to 20 micrograms/L are observed with determination limits of 0.05 microgram/L. The method is successfully applied to the screening of different environmental water samples such as surface, ground, rain, and drinking water.

Chromatography, High Pressure Liquid↗

Ionizing radiation and genetic risks. VIII. The concept of mutation component and its use in risk estimation for multifactorial diseases.

Multifactorial diseases, which include the common congenital abnormalities (incidence: 6%) and chronic diseases with onset predominantly in adults (population prevalence: 65%), contribute substantially to human morbidity and mortality. Their transmission patterns do not conform to Mendelian expectations. The model most frequently used to explain their inheritance and to estimate risks to relatives is a Multifactorial Threshold Model (MTM) of disease liability. The MTM assumes that: (i) the disease is due to the joint action of a large number of genetic and environmental factors, each of which contributing a small amount of liability, (ii) the distribution of liability in the population is Gaussian and (iii) individuals whose liability exceeds a certain threshold value are affected by the disease. For most of these diseases, the number of genes involved or the environmental factors are not fully known. In the context of radiation exposures of the population, the question of the extent to which induced mutations will cause an increase in the frequencies of these diseases has remained unanswered. In this paper, we address this problem by using a modified version of MTM which incorporates mutation and selection as two additional parameters. The model assumes a finite number of gene loci and threshold of liability (hence, the designation, Finite-Locus Threshold Model or FLTM). The FLTM permits one to examine the relationship between broad-sense heritability of disease liability and mutation component (MC), the responsiveness of the disease to a change in mutation rate. Through the use of a computer program (in which mutation rate, selection, threshold, recombination rate and environmental variance are input parameters and MC and heritability of liability are output estimates), we studied the MC-heritability relationship for (i) a permanent increase in mutation rate (e.g., when the population sustains radiation exposure in every generation) and (ii) a one-time increase in mutation rate. Our investigation shows that, for a permanent increase in mutation rate of 15%, MC in the first few generations is of the order of 1-2%. This conclusion holds over a broad range of heritability values above about 30%. At equilibrium, however, MC reaches 100%. For a one-time increase in mutation rate, MC reaches its maximum value (of 1-2%) in the first generation, followed by a decline to zero in subsequent generations. These conclusions hold for so many combinations of parameter values (i.e., threshold, selection coefficient, number of loci, environmental variance, spontaneous mutation rate, increases in mutation rate, levels of 'interaction' between genes and recombination rates) that it can be considered to be relatively robust. We also investigated the biological validity of the FLTM in terms of the minimum number of loci, their mutation rates and selection coefficients needed to explain the incidence of multifactorial diseases using the theory of genetic loads. We argue that for common multifactorial diseases, selection coefficients are small in present-day human populations. Consequently, with mutation rates of the order known for Mendelian genes, the FLTM with a few loci and weak selection provides a good approximation for studying the responsiveness of multifactorial diseases to radiation exposures.

Adult↗

The design of adaptive systems: optimal parameters for variation and selection in learning and development.

Some aspects of learning and development are based on evolutionary change within the organism. In trial and error learning, variant ideas or behaviors are generated and selective filters (learning rules) choose among the population of variants. Development may, in some cases, proceed by selection within a population of variant cellular lineages. This paper analyses abstract properties of selective systems to understand the evolutionary dynamics that occur within organisms. The Price Equation and Fisher's fundamental theorem of natural selection, two of the most powerful concepts in evolutionary genetics, are applied in a general way to internal selective systems in learning and development. This analysis emphasizes generative mechanisms and selective filters as genetically controlled phenotypes of individual organisms. Generative mechanisms create the variation on which selection acts. Selective filters determine the extent to which selection within the organism optimizes organismal performance. The methods of Price and Fisher provide a general way in which to partition evolutionary change into improvements caused by selection and the tendency of high performance variants to deteriorate because of competition or environmental change. This balance between selective improvement, at a rate equal to the variance in fitness, and a matching deterioration in performance, provides general insight into the common properties of adaptive systems in genetics, learning and development. These ideas are applied to a model of honey bee foraging. This example clarifies the relation between genes and phenotypes controlled by internal selective systems.

Adaptation, Physiological↗

Toxicology of selected pesticides, drugs, and chemicals. Pyrethrin and pyrethroid insecticides.

Pyrethroids have a wide spectrum of insecticidal potency, vertebrate toxicity, and environmental stability. The exceptionally high selectivity ratios of pyrethrins and pyrethroids have resulted in their use for insect control in numerous formulations. A primary effect of pyrethroids is to slow the closing of the sodium activation gate in nerve cells. All pyrethroids have essentially the same basic mechanism of action on voltage-dependent sodium channels but differ in the magnitude of effect. Based on clinical signs, electrophysiologic responses, and chemical structure, pyrethroids can be classified as Type I or Type II. Inhibition of the GABAA receptor appears to be an additional mechanism of Type II pyrethroids. Clinical signs in small animals during a pyrethroid toxicosis vary but are generally attributable to neural dysfunction. Treatment consists of decontamination procedures and application of appropriate symptomatic care, including control of seizures if necessary.

Animals↗

On alternatives to selection-induced mutation in the Bgl operon of Escherichia coli.

Selection-induced mutations are nonrandom mutations that occur as specific and direct responses to environmental challenge. Examples of selection-induced mutations have been reported both in bacteria and in yeast. I previously showed (Hall 1988) that excisions of the mobile genetic element IS150 from within bglF are selection induced and argued that they occurred because they were potentially advantageous under the selective conditions employed. Mittler and Lenski (Mittler and Lenski 1992) have argued that such excisions are not selection induced but that they occur randomly in nondividing cells. Here I provide further evidence that IS150 excisions are induced by selection and that the excisions are immediately, rather than only potentially, advantageous to the cell. I also provide evidence that excisions, which Mittler and Lenski claim occur randomly in saturated broth cultures, actually occur after samples from those cultures are plated onto selective medium.

Benzyl Alcohols↗

Flow sorting of microorganisms for molecular analysis.

Not only classical cultivation-based methods but also the new molecular approaches may result in incomplete and selective information on the natural diversity of microbial communities. Flow sorting of microorganisms from environmental samples allows the deliberate selection of cell populations of interest from highly diverse systems for molecular analysis. Several cellular parameters that can be measured by flow cytometry are useful as sort criteria. Here, we report sorting of bacteria from activated sludge, lake water, and lake sediment according to differences in light scattering, DNA content, and/or affiliation to certain phylogenetic groups as assessed by fluorescein-labeled, rRNA-targeted oligonucleotide probes. Microscopy of the sorted cells showed that populations of originally low abundance could be strongly enriched by flow sorting (up to 280-fold), depending on the original abundance of the cells of interest and the type of sample sorted. The purity of the cells of interest could be further increased by repeated sorting, but this increase was limited by cell aggregation in the case of activated-sludge samples. It was possible to amplify almost full-length 16S ribosomal DNA (rDNA) fragments from sorted microbial cells by PCR, even after fixation with paraformaldehyde and in situ hybridization. Dot blot hybridization and sequencing demonstrated that most of the amplified rDNA originated from those cells that had been selected for by flow sorting. Comparative analysis of 16S rDNA sequences revealed previously unknown species of magnetotactic or activated-sludge bacteria.

Bacteria↗

A genetically encoded fluorescent amino acid.

The ability to introduce fluorophores selectively into proteins provides a powerful tool to study protein structure, dynamics, localization, and biomolecular interactions both in vitro and in vivo. Here, we report a strategy for the selective and efficient biosynthetic incorporation of a low-molecular-weight fluorophore into proteins at defined sites. The fluorescent amino acid 2-amino-3-(5-(dimethylamino)naphthalene-1-sulfonamide)propanoic acid (dansylalanine) was genetically encoded in Saccharomyces cerevisiae by using an amber nonsense codon and corresponding orthogonal tRNA/aminoacyl-tRNA synthetase pair. This environmentally sensitive fluorophore was selectively introduced into human superoxide dismutase and used to monitor unfolding of the protein in the presence of guanidinium chloride. The strategy described here should be applicable to a number of different fluorophores in both prokaryotic and eukaryotic organisms, and it should facilitate both biochemical and cellular studies of protein structure and function.

Alanine↗

Rapid assays for environmental and biological monitoring.

Rapid, inexpensive, sensitive, and selective enzyme-linked immunosorbent assays (ELISAs) now are utilized in environmental science. In this laboratory, many ELISAs have been developed for pesticides and other toxic substances and also for their metabolites. Compounds for which ELISAs have recently been devised include insecticides (organophosphates, carbaryl, pyrethroids, and fenoxycarb), herbicides (s-triazines, arylureas, triclopyr, and bromacil), fungicides (myclobutanil), TCDD, and metabolites of naphthalene and toluene. New rapid assays have been developed for mercury.

Antifungal Agents↗

Chemical carcinogens. A review and analysis of the literature of selected chemicals and the establishment of the Gene-Tox Carcinogen Data Base. A report of the U.S. Environmental Protection Agency Gene-Tox Program.

The literature on 506 selected chemicals has been evaluated for evidence that these chemicals induce tumors in experimental animals and this assessment comprises the Gene-Tox Carcinogen Data Base. Three major sources of information were used to create this evaluated data base: all 185 chemicals determined by the International Agency for Research on Cancer to have Sufficient evidence of carcinogenic activity in experimental animals, 28 selected chemicals bioassayed for carcinogenic activity by the National Toxicology Program/National Cancer Institute and found to induce tumors in mice and rats, and 293 selected chemicals which had been evaluated in genetic toxicology and related bioassays as determined from previous Gene-Tox reports. The literature data on the 239 chemicals were analyzed by the Gene-Tox Carcinogenesis Panel in an organized, rational and consistent manner. Criteria were established to assess individual studies employing single chemicals and 4 categories of response were developed: Positive, Negative, Inconclusive (Equivocal) and Inconclusive. After evaluating each of the individual studies on the 293 chemicals, the Panel placed each of the 506 chemicals in an overall classification category based on the strength of the evidence indicating the presence or absence of carcinogenic effects. An 8-category decision scheme was established using a modified version of the International Agency for Research on Cancer approach. This scheme included two categories of Positive (Sufficient and Limited), two categories of Negative (Sufficient and Limited), a category of Equivocal (the evidence of carcinogenicity from well-conducted and well-reported lifetime studies had uncertain significance and was neither clearly positive nor negative), and three categories of Inadequate (the evidence of carcinogenicity was insufficient to make a decision, however, the data suggested a positive or negative indication). Of the 506 chemicals in the Gene-Tox Carcinogen Data Base, 252 were evaluated as Sufficient Positive, 99 as Limited Positive, 40 as Sufficient Negative, 21 as Limited Negative, 1 as Equivocal, 13 as Inadequate with the data suggesting a positive indication, 32 as Inadequate with the data suggesting a negative indication, and 48 Inadequate with the data not suggesting any indication of activity. This data base was analyzed and examined according to chemical class, using a 29 chemical class scheme.(ABSTRACT TRUNCATED AT 400 WORDS)

Animals↗

Growth variability in avian embryos as a source of experimental error.

To reduce variability in an embryonic population to be used in experiments with electromagnetic fields, 820 Japanese quail eggs (41 experiments, 20 eggs per experiment) were incubated to analyze different possible inputs of experimental variance. Eggs came from a randombred progenitor population obtained from a poultry farm and selectively maintained. The results show that growth variability is significantly higher in some progenies, which show bimodal distributions; this is evidence of the existence of a dichotomous population with different growth velocities within these populations. This phenomenon seems to be the result of growth factors inherited from the progenitors and not of environmental factors. A genetic selection of the progenitors used in the experimental lines dealing with growth variability in birds seems necessary to reduce any possible erroneous interpretation of the experimental results.

Animals↗

Dietary and other environmental risk factors in acute leukaemias: a case-control study of 119 patients.

Selected dietary risk factors and other environmental factors were studied in 119 adult patients (60 males and 59 females of the Cracow region) with acute leukaemia (91 acute myeloid leukaemia and 28 acute lymphoblastic leukaemia), by a case-control study method and logistic regression modelling of the risk of leukaemia. It was shown that the diet of patients with acute leukaemias before the onset of the disease differed qualitatively and quantitatively from that of healthy subjects of control groups. The risk of acute leukaemia was elevated in the subjects characterized by rare consumption of raw vegetables, frequent drinking of milk, frequent consumption of poultry, and drinking of soft water. Other environmental conditions connected with the dietary risk were: frequent viral infections, vaccination with the vaccinia virus, frequent use of aminophenazone, presence of fungi in the house, drinking of milk supplied from own's own cows, and frequent deaths of reared poultry.

Acute Disease↗