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Search for susceptibility genes, gene x gene interactions, and gene x environment interactions utilizing nonparametric linkage analysis.

There may be a different genetic basis for the two forms of the disease simulated in Problem 2 and the complex disease may be affected by environmental factors. Hence, we investigate the effects of two environmental factors. We selected 400 nuclear families from the data generated for Problem 2. Affection status was investigated in several ways. Individuals with severe and mild forms of the disease were both considered affected, individuals with only the severe form were considered affected while those with the mild form were considered unknown, and individuals with only the mild form were considered affected while those with the severe form were considered unknown. We found evidence of linkage between putative disease loci and markers in the D3G042-D3G049 and D5G031-D5G042 regions when we considered severely and mildly affected individuals as affected and also in the region D1G004-D1G013 when mildly affected individuals were considered unknown. We observed interactions between the first environmental factor and D1G043 among healthy sib pairs.

Environment↗

Biocide use in the food industry and the disinfectant resistance of persistent strains of Listeria monocytogenes and Escherichia coli.

AIMS: The aims of the project were threefold: to survey the use of disinfectants in the UK food industry; to assess the product and environmental microflora of selected food factories for the persistence of Listeria monocytogenes and Escherichia coli; and to determine the disinfectant resistance of any persistent strains. METHODS AND RESULTS: A survey of the use of disinfectants in the UK food industry was undertaken in which a total of 40 sites were visited and a further 77 postal questionnaires were returned from farms, food manufacture, food transport and food retail sites. Quaternary ammonium compounds (QACs) were predominantly used, applied in small volumes as a mist. Approximately 30,000 samples from the product and environment of five chilled food factories were examined for L. monocytogenes and E. coli over a 3 year period. A total of 181 L. monocytogenes and 176 E. coli isolates were ribotyped to yield 19 and 34 ribogroups, respectively. Some strains were isolated only from the product, a number only from the environment and others from both niches. Some strains were seen to be persistent for the duration of the sampling exercise (2-3 years). The most common L. monocytogenes and E. coli strains, together with two environmental L. monocytogenes strains, were assessed for any resistance to commercial disinfectants as compared with a laboratory L. monocytogenes disinfectant testing strain. The resistance of the L. monocytogenes and E. coli strains isolated from the factory were not significantly different from the laboratory control strain. CONCLUSIONS: Persistent strains of L. monocytogenes and E. coli are found in the UK food industry, though this persistence is not related to their increased susceptibility to the most commonly used disinfectants. SIGNIFICANCE AND IMPACT OF THE STUDY: The concept of a persistent microflora in food factories will have an impact on the future selection of suitable control options, including the use of biocides.

DNA Fingerprinting↗

Biocide use in the food industry and the disinfectant resistance of persistent strains of Listeria monocytogenes and Escherichia coli.

AIMS: The aims of the project were threefold: to survey the use of disinfectants in the UK food industry; to assess the product and environmental microflora of selected food factories for the persistence of Listeria monocytogenes and Escherichia coli; and to determine the disinfectant resistance of any persistent strains. METHODS AND RESULTS: A survey of the use of disinfectants in the UK food industry was undertaken in which a total of 40 sites were visited and a further 77 postal questionnaires were returned from farms, food manufacture, food transport and food retail sites. Quaternary ammonium compounds (QACs) were predominantly used, applied in small volumes as a mist. Approximately 30,000 samples from the product and environment of five chilled food factories were examined for L. monocytogenes and E. coli over a 3 year period. A total of 181 L. monocytogenes and 176 E. coli isolates were ribotyped to yield 19 and 34 ribogroups, respectively. Some strains were isolated only from the product, a number only from the environment and others from both niches. Some strains were seen to be persistent for the duration of the sampling exercise (2-3 years). The most common L. monocytogenes and E. coli strains, together with two environmental L. monocytogenes strains, were assessed for any resistance to commercial disinfectants as compared with a laboratory L. monocytogenes disinfectant testing strain. The resistance of the L. monocytogenes and E. coli strains isolated from the factory were not significantly different from the laboratory control strain. CONCLUSIONS: Persistent strains of L. monocytogenes and E. coli are found in the UK food industry, though this persistence is not related to their increased susceptibility to the most commonly used disinfectants. SIGNIFICANCE AND IMPACT OF THE STUDY: The concept of a persistent microflora in food factories will have an impact on the future selection of suitable control options, including the use of biocides.

Anti-Bacterial Agents↗

Hair dye use and other risk factors for leukemia and pre-leukemia: a case-control study. Italian Leukemia Study Group.

A case-control study was carried out to examine the relation of three subtypes of leukemia cells and refractory anemia with excess of blasts to selected behavioral and environmental factors. Cases aged 15 years or older were recruited in three hospitals located in Rome, Bologna, and Pavia, respectively. Outpatients who were either normal or had nonneoplastic hematologic disorders and were seen in the same hospitals as the cases were enrolled as controls. Two hundred fifty-two patients with acute myeloid leukemia, 100 with acute lymphocytic leukemia, 111 with refractory anemia with excess of blasts, 156 with chronic myeloid leukemia, and 1,161 controls were included in the study. Refractory anemia with excess of blasts and chronic myeloid leukemia were included because they are regarded as forms of pre-leukemia. Odds ratio estimates were generally imprecise, but associations were suggested between specific case subtypes and exposure to dark hair dye, selected occupations (shoemaker, painter, electrician, child care), residence in houses built with tuff, and smoking. Although the exploratory nature of the study and its limited statistical power preclude firm conclusions, its results are consistent with those of previous studies, and are in general biologically plausible.

Adolescent↗

Organic solvent-tolerant mutants of Pseudomonas aeruginosa display multiple antibiotic resistance.

Organic solvent-tolerant mutants of Pseudomonas aeruginosa selected in the presence of hexane exhibited increased resistance to a variety of structurally unrelated antimicrobial agents, including beta-lactams, fluoroquinolones, chloramphenicol, tetracycline, and novobiocin, a phenotype typical of nalB multidrug-resistant mutants. Western immunoblotting with antibodies specific to components of the three known multidrug efflux systems in P. aeruginosa demonstrated that the solvent-tolerant mutants displayed increased expression of the MexAB-OprM system and decreased expression of the MexEF-OprN system. Sequence analysis of mexR, the repressor gene of mexAB-oprM efflux operon, identified a nonsense mutation and a point mutation in the mexR genes of two solvent-tolerant mutants. These results emphasize the importance of the MexAB-OprM efflux system in organic solvent tolerance and the ability of environmental pollutants to select bacteria with a medically relevant antibiotic-resistant phenotype.

Anti-Bacterial Agents↗

Effect of environmental antigens on the Ig diversification and the selection of productive V-J joints in the bursa.

In chickens, a single set of unique functional segments of both Ig H and L chain genes is rearranged during early embryogenesis to generate a pool of B cell progenitors that will be diversified in the bursa by gene conversion, forming the preimmune repertoire. After hatching, bursal cells are exposed to environmental Ags in the bursal lumen. We prepared B cells from each single bursal follicle and used PCR-directed Ig L chain gene analysis to study the differentiation of B cells and the effect of antigenic stimulation from the bursal lumen on the neonatal chicken B cell repertoire formation. Selective amplification of B cell clones with a productive V-J joint was observed during the late embryonic stage, possibly by the interaction with ligands expressed on the bursal stroma and further accelerated in the neonatal chicken. Administration of the artificial Ags into the bursal lumen before the isolation of bursa by bursal duct ligation in the embryo caused a significant increase in lymphocytes with a productive V-J joint in the neonatal chicken bursa compared with the isolated bursa. Intra- and interclonal diversity of a complementarity-determining region measured by an evolutionary distance increased during bursal development. Clonal diversification did not require stimulation by artificial Ags from the bursal lumen. Thus, the preimmune repertoire in the bursa is generated by gene conversion during Ag-independent B cell proliferation, and antigenic stimulation from the bursal epithelium to bursal B cells plays roles in the selection of clones with a productive V-J joint.

Amino Acid Sequence↗

The importance of comparative studies and ecological validity for understanding hippocampal structure and cognitive function.

Building from the premise that hippocampal cognitive function has been molded by natural selection under natural environmental conditions, it is argued that traditional laboratory studies likely do not reveal the richness and complexity of hippocampal function. Research on the role of the hippocampal formation in the navigational behavior of homing pigeons is offered as an example to illustrate the advantages of using an ecological approach to understand hippocampal function. It is further proposed that dissimilarities in hippocampal anatomy, physiology, and neurochemistry found between species reflect species differences in the range of functions served by the hippocampal formation, as well as possibly the molecular and cellular mechanisms that support such functions. These differences notwithstanding, it is suggested that, from an evolutionary perspective, the primary function of the hippocampal formation is a role in some aspect of spatial cognition. Dissimilarities in hippocampal structure and function among extant species are viewed as resulting from differences in evolutionary selective pressure and evolutionary history.

Animals↗

[Prediction of yield and yield components in hybrid rice by using molecular markers].

Yield and yield components in hybrid rice were investigated using AFLP, RAPD and SSR markers. Ten restorer and five male-sterile lines were crossed in all possible pairs resulting in 50 crosses. Positive loci, effect-increasing loci, effect-decreasing loci and non-environmental loci were selected from the 931 marker loci surveyed in the 15 parental lines and their correlation with yield and yield components were analyzed. The results indicated as follows (1) The correlation between genetic difference and yield and yield components calculated on all three molecular loci failed to reach significant level for most of the traits investigated and can not be used to predict yield and yield components directly. (2) Positive loci were of limited usefulness in the prediction of yield and yield components for their variation with different traits investigated despite that they can improve the correlation coefficient in some degree. (3) Effect-increasing and effect-decreasing loci can greatly improve correlation coefficient and may be used to predict the yield and yield components for their consistence with the environment. (4) The coefficient based on non-environmental loci was high though it was a bit lower than that based on effect-increasing and effect-decreasing loci. It indicated that environment had great effect on yield and yield components in rice.

DNA, Plant↗

Sparse phenotyping for wheat grain yield enabled by multiomics prediction.

Grain yield is a central target in wheat breeding, yet accurately predicting it remains challenging because it depends on many genes and responds strongly to environmental variation. Genomic selection (GS) has improved breeding efficiency by enabling genome-based prediction of genetic merit, but predictability (PA) for grain yield is often limited under stress environments. At the same time, advances in high-throughput phenotyping (HTP) using unmanned aerial vehicles (UAVs) provide phenomic data that capture environment-responsive plant performance and may complement genomic information. In this study, we evaluated genomic and phenomic models for predicting grain yield in elite bread wheat lines across irrigated, drought, and heat-stress environments. Using a sparse phenotyping framework, we compared parametric and non-parametric models. PA was evaluated within environments and under cross-environment sparse phenotyping scenarios. Genomic models provided a stable baseline and enabled effective information sharing across environments when phenotypic data were incomplete. Phenomics-only models captured environment-specific plant responses but were more sensitive to environmental context. Multiomics models that integrated genomic and phenomic information consistently achieved the highest PA, with the largest gains observed under stress conditions. Overall, our results demonstrate that integrating genomics and UAV-based phenomics within sparse phenotyping designs offers a practical and scalable approach to improve grain yield prediction in wheat.

Triticum↗

A site-directed mutagenesis interrogation of the carboxy-terminal end of Arabidopsis thaliana threonine dehydratase/deaminase reveals a synergistic interaction between two effector-binding sites and contributes to the development of a novel selectable marker.

We fused four mutant omr1 alleles, encoding feedback-insensitive forms of Arabidopsis thaliana biosynthetic threonine dehydratase/deaminase (TD), to the CaMV 35S promoter and transformed these constructs into A. thaliana Columbia wild type plants. The mutant TD forms consisted of our previously isolated double mutant, omr1-1 , and three new site-directed mutants, omr1-5 , omr1-7 , and omr1-8 with single point mutations. We employed site-directed mutagenesis to assay the effects of amino acid substitutions in separate regulatory regions within the carboxy-terminal (C-term) allosteric end. TD assays and growth resistance to the isoleucine (Ile) toxic analog -O-methylthreonine (OMT) confirmed the desensitization to feedback inhibition and the viability of these mutant omr1 alleles as selectable markers, respectively. Two of the site-directed mutants, omr1-5 and omr1-7 , appeared to influence one of the two separate Ile-binding sites and had a notable 13-fold and 15-fold increase in free Ile, respectively. The omr1-8 appeared to influence the other Ile-binding site and resulted in a 2-fold increase in free Ile. The transgenic omr1-1 double mutant affecting both Ile-binding sites, however, displayed a 106-fold increase in free Ile revealing a profound synergistic interplay between these separate Ile-binding sites. While all of the four omr1 alleles conferred resistance to elevated concentrations of OMT, the progeny of omr1-1 initial transformants exhibited a bushy phenotype at the rosette stage. On the other hand, progeny of transformants omr1-5 , omr1-7 , and omr1-8 had a normal phenotype, undistinguishable from wild type. Therefore, alleles omr1-5 , omr1-7 , and omr1-8 , proved to be ideal as environmentally-friendly, dominant, selectable markers for plant transformation.

Alleles↗

Size-dependent concentrations of trace metals in four Mediterranean gastropods.

In order to gain more information on the possible use of four gastropod species as metal biomonitors for the Mediterranean area, the influence of body weight upon Cd, Cr, Cu, Pb and Zn concentrations was studied in specimens collected at locations with different degrees of environmental pollution. The selected species were the marine snails Monodonta turbinata Born and Monodonta mutabilis Philippi, and the limpets Patella caerulea L. and Patella lusitanica Gmelin. Significant differences between metal concentrations in individuals from different stations were tested by ANCOVA on log-transformed data with log body weight as covariate. For all species a positive correlation between metal concentrations and body weight was observed, which means that the largest individuals contained the highest levels of metals. The inclusion of body weight as covariate in the statistical analysis explained from 81% to 99% of the metal variability within the organisms and enabled the achievement of improvements in the detection of differences among sites. The four selected species provided a rather univocal picture of bioavailable metal loads at the different stations of the experimental area. Except for Cd, the metal concentrations recorded at the clean stations were found to lie in the range of the lowest values reported in the literature and can be employed as useful background levels which can be referred to for intraspecific comparison within the Mediterranean area. It is concluded that in view of its distribution, unambiguous identification, resistance to pollution and accumulation patterns M. turbinata has considerable potential as a biomonitor of trace metals over the Mediterranean.

Animals↗

Geographic patterns of clonal diversity in the earth mite species Penthaleus major with particular emphasis on species margins.

Patterns of clonal diversity in parthenogenetic species can be influenced by occasional sexual reproduction, selection due to environmental heterogeneity, and genetic drift. Here we investigate geographic patterns of clonal diversity in the obligate parthenogenetic earth mite species, Penthaleus major, in southeastern Australia. Spatial autocorrelation analysis indicated a relationship between geographic distance and clonal diversity at the sites. However, there was no evidence for an association between distance and clonal composition or the frequency of the two most common clones. Regression analyses indicated that clonal diversity and the frequency of one of the common clonal groups were associated with latitude and/or climatic variables, whereas the other common group was not associated with any of those variables. In four transects (each 250-400 km in length) extending from the center of the distribution of P. major to its margins, there was a consistent and continuous decline in clonal diversity as the margin was approached but no evidence that one clonal group predominated at the margin. This argues against the importance of a general-purpose genotype being favored at margins and suggests that either selection acts to decrease local diversity at sites near the margin or that diversity declines due to drift at these sites.

Animals↗

Releases from copper smelters and refineries and zinc plants in Canada: human health exposure and risk characterization.

In these assessments of releases from copper smelters and refineries and from zinc plants as Priority Substances under the Canadian Environmental Protection Act (CEPA), available data were critically evaluated to determine if environmental exposure to selected components of these releases poses a risk to human health. The data on airborne levels of a variety of toxic substances near these facilities in Canada were obtained from the companies or provinces and systematically analyzed. Monitoring of ambient air near the Canadian copper smelters and refineries and zinc plants indicates that releases from these facilities result in increased potential for inhalation exposure of local human populations to several components of releases (As, Cd, Cr, Ni, Pb, SO(2) and PM(10)). Airborne levels in the vicinity of these metal-processing operations overlap those associated with cardiorespiratory effects for PM(10), and exceed health-based guidelines for SO(2) and, near some facilities, Pb. In addition, the margin between levels of As, Cd, Cr and Ni near these facilities in Canada and carcinogenic potency for each of these metals is relatively small near copper smelters, larger near copper refineries, and intermediate near zinc plants. On this basis, the risk to human health from environmental exposure to releases from these facilities is considered to be high compared with other Priority Substances assessed under CEPA, especially for facilities where copper is smelted.

Air Pollutants↗

Biomonitoring lead exposure with delta-aminolevulinate dehydratase (ALA-D) activity ratios.

The occupational or environmental exposure of selected populations to lead, either alone or in combination with other metals, was monitored using ratios of the activity of the erythrocytic enzyme delta-aminolevulinate dehydratase. The results obtained have reaffirmed earlier findings that this test affords several significant advantages over the use of the enzyme's activity value measured at a set pH value and other types of activity ratios to assess lead exposure. Furthermore, the activity ratios' proven sensitivity, reliability, reproducibility, specificity and stability warrant that they be considered as viable alternatives to the more widely accepted diagnostic criteria of lead intoxication namely zinc protoporphyrin and lead levels in blood.

Adult↗

An assay for selecting high risk population for gastric cancer by studying environmental factors.

Gastric cancer mortality incidence data registered in two different areas of Eastern Transylvania (Roumania) were reported related to 325,000 inhabitants from the period of 1951-1972. The findings were compared to some geographical environmental factors deriving from an area of 13,300 km with 905,700 inhabitants. A 2-3.5 times larger incidence of gastric cancer (75-140 per 100,000/year) was found in some selected geographical areas of the intermontane depressions of Gheorgheni and Ciuc in comparison to hilly area of Transylvanian Tableland. The difference might be explained by some unknown environmental gastric cancer risk factors. Of the natural factors, the presence of magmatic substrata shows a significant degree of correlation. The main pedological factor seems to be badly drained pseudoglyied podzolic and peaty soils of low pH and high content of organic matter. Sofs drinking waters also may be involved as risk factor. High altitude, cold climate determining a restricted assortiment of cultivated plants, the successive production of vegetal and animal food on the same soil for livelong periods and several generations, especially in isolated rural areas, seem to represent gastric cancer risk factors. According to authors' opinion a survey of the high-risk population selected on the basis of the environmental factors, especially of the persons suffering from gastric disorders considered today possible precursors of gastric cancer, may offer some progress in detecting early gastric malignancy in the future.

Climate↗

Genetic correlation between serum insulin-like growth factor-1 concentration and performance and meat quality traits in Duroc pigs.

This study was intended to examine whether serum IGF-I concentration is appropriate for use as a physiological predictor for genetic improvement of meat production and meat quality traits in pigs. Heritabilities and genetic correlations were estimated for these traits. The Duroc breed used in this study was selected for seven generations for average daily BW gain (DG) from 30 to 105 kg of BW, loin-eye muscle area (EM), backfat thickness (BF), and intramuscular fat (IMF) content. Serum IGF-I concentration of boars and gilts at the fourth generation of selection and that of boars, gilts, and barrows from the fifth to seventh generations of selection were measured at 8 wk (IGFI-8W) for 832 animals and again at the time they reached 105 kg of BW (IGFI-105KG) for 834 animals. A multivariate REML procedure was used to estimate genetic parameters with a model incorporating generation of selection, sex, common environmental effect of litter, and individual additive genetic effects. Heritability estimates for IGFI-8W and IGFI-105KG were 0.23 +/- 0.02 and 0.26 +/- 0.03, respectively. The estimates of common environmental effect for IGFI-8W and IGFI-105KG were 0.20 +/- 0.02 and 0.03 +/- 0.01, respectively. Positive genetic correlations were estimated between IGFI-8W and DG (0.26 +/- 0.08), EM (0.22 +/- 0.10), and IMF (0.32 +/- 0.10). Moreover, the positive genetic correlation between IGFI-105KG and EM was 0.42 +/- 0.08. These results indicate that serum IGF-I concentration at an early stage of growth was effective for prediction of IMF, but it was not a reliable physiological predictor of genetic merit of meat production traits.

Adipose Tissue↗

Availability of in vitro vitellogenin assay for screening of estrogenic and anti-estrogenic activities of environmental chemicals.

Vitellogenin (VTG) protein, VTG mRNA, other egg yolk proteins, vitelline envelope proteins and their mRNAs are produced in the liver of oviparous species by stimulation of endogenous estrogen and exogenous estrogenic chemicals. The VTG assay based on enzyme-linked immunosorbent assay (ELISA) has been widely used for many fish species to screen estrogenic and anti-estrogenic activities of chemicals and sewage effluents using immature fish and/or male fish. In order to reduce the number of fish for screening of estrogenicity and anti-estrogenicity of chemicals, primary cultured fish hepatocytes can be used. In fact, primary cultured hepatocytes have been successfully used for the detection of estrogenic and anti-estrogenic activities of environmental chemicals in selected OECD fish species, e.g., medaka (Oryzias latipes) and rainbow trout (Oncorhynchys mykiss) together with other fish species such as Atlantic salmon (Salmo salar L.), Siberian sturgeon (Acipenser baeri), tilapia (Oreochromis mossambicus), carp (Cyprinus carpio), bream (Abramis brama), Carassius auratus, silver eel (Anguilla anguilla L.), and channel catfish (Ictalurus punctanus). In terms of hepatocyte assays relating to other taxa, these include frogs such as Xenopus laevis and the common green frog (Rana esculenta), chickens (Gallus domesticus) and herring gulls (Larus argentatus). VTG mRNA measurement by quantitative reverse transcription-polymerase chain reaction has also been successfully applied in the primary cultured hepatocytes of various species.

Animals↗

Population studies in microorganisms. I. Evolution of diploidy in Saccharomyces cerevisiae.

The relative adaptation of isogenic haploid and diploid strains of yeast was investigated in different sets of physiological conditions. When all nutrients were present in excess, no difference in the reproductive rates of isogenic haploid and diploid strains of yeast was detected in both optimal and non-optimal growth conditions. Competition between haploid and diploid strains of yeast was observed when growth was limited by the concentration of a single nutrilite. Under certain conditions when fitness (reproductive rate) is determined by transport of an essential nutrilite that exists in very low concentrations, diploid cells were selected against. These environmental conditions are similar to those found in offshore marine environments where nutrients are often present in extremely low concentrations. The fitness of diploid cells was estimated to be.93 +/-.02 (haploid fitness = 1). The reduced fitness of diploid cells in this environment can be explained by the reduced surface area/volume ratio possessed by diploid cells in comparison to haploid cells. The fitnesses of haploid and diploid cells in these environments are closely correlated with geometric variations in these strains. These results are consistent with the hypothesis that diploid cells are simply double haploids, and diploidy per se does not confer any direct adaptive advantage. The mechanism of the evolution of diploidy as a dominant phase in the life cycle of higher plants and animals remains obscure.

Diploidy↗