Denaturing high-performance liquid chromatography (DHPLC)-based prenatal diagnosis for tuberous sclerosis

Tuberous sclerosis (TSC) is a frequent autosomal-dominant condition (affecting 1 in 6000 individuals) caused by various mutations in either the hamartin (TSC1) or the tuberin gene (TSC2). This allelic and non-allelic heterogeneity makes genetic counseling and prenatal diagnosis difficult, especially as a significant proportion of TSC cases are due to de novo mutations. For this reason the identification of the disease causing mutation is mandatory for accurate counseling, yet current mutation detection methods such as single-strand conformation polymorphism (SSCP) or denaturing gradient gel electrophoresis (DGGE) are labor intensive with limited detection efficiency. Denaturing high-performance liquid chromatography (DHPLC) is a high-throughput, semi-automated mutation detection system with a reported mutation detection rate close to 100% for PCR fragments of up to 800 bp. We used a recently described DHPLC assay allowing the efficient detection of mutations in TSC1 to analyze the DNA extracted from a chorion villus sample in order to perform a prenatal diagnosis for TSC. The fetus was found not to have inherited the deleterious mutation and the DHPLC diagnosis was confirmed by haplotype analysis. This represents the first DHPLC-based prenatal diagnosis of a genetic disease. Copyright © 2001 John Wiley & Sons, Ltd.     

Rational pricing of groundwater with a growing population

When population is increasing, characterizing the optimal water consumption path is complicated by the fact that the underlying dynamics of the water stock is contingent on the level of the stock itself. We propose a method of constructing the optimal path in this case. Since population is increasing, the optimal consumption path may involve refraining at times from consuming the totality of the surface water flow in order to restock in groundwater for future consumption. The aquifer then serves as a means to achieve welfare increasing intertemporal transfers of surface water. Therefore the aquifer itself, as distinct from the stock of water it serves to store, may have value and the marginal valuation of water when groundwater stocks are being drawn upon should, for this reason, differ at times from the marginal valuation of water when it is drawn strictly from surface water.     

Levels of major organochlorine contaminants in sequentially - laid Herring Gull eggs

Sequentially laid eggs of Herring Gulls in Lake Erie and the Detroit River (Ontario) were found to contain increasingly higher levels of organochlorine contaminants. The reason for this was not determined but a depletion of lipid pools during the egg laying period and a rapid equilibrium between body and egg burdens may explain the results. It is recommended that, for long term toxic residue monitoring, eggs at the same position in the order of laying be taken from all sampled clutches.     

Tradescantia micronucleus test indicates genotoxic potential of traffic emissions in European cities

Urban atmospheres contain complex mixtures of air pollutants including mutagenic and carcinogenic substances such as benzene, diesel soot, heavy metals and polycyclic aromatic hydrocarbons. In the frame of a European network for the assessment of air quality by the use of bioindicator plants, the Tradescantia micronucleus (Trad-MCN) test was applied to examine the genotoxicity of urban air pollution. Cuttings of Tradescantia clone #4430 were exposed to ambient air at 65 monitoring sites in 10 conurbations employing a standardised methodology. The tests revealed an elevated genotoxic potential mainly at those urban sites which were exposed to severe car traffic emissions. This bioassay proved to be a suitable tool to detect local 'hot spots' of mutagenic air pollution in urban areas. For its use in routine monitoring programmes, however, further standardisation of cultivation and exposure techniques is recommended in order to reduce the variability of results due to varying environmental conditions.     

Social discrimination tuning in ants: template formation and chemical similarity

To investigate the role of template plasticity in shaping nest-mate recognition processes in ants, we constructed experimental mixed-species groups of Manica rubida with either Myrmica rubra, Tetramorium bicarinatum or Formica selysi. Selecting Ma. rubida as the focal species, we observed the behaviour within mixed-species groups and the transfer rates of cuticular hydrocarbons (CHC) onto the focal ants, and we also tested the aggression of the focal species reared either alone or in association with each of the three different species. We show that Ma. rubida workers were always amicable towards their mixed group members, as towards members of the respective parental colonies, irrespective of the associated species. They did, however, express different levels of aggression towards single-species groups of the other species tested, depending on the species with which they were reared. The study suggests that similarity in CHC profiles in two species leads to a narrow template in mixed groups, while dissimilarity is followed by lower levels of aggression (a broader template), at least against species with similar CHC compound compositions (i.e. both a broader template in the focal ants and familiarity with the compound groups of the tested individuals operate together). This refutes the hypothesis that ants reared in mixed-species groups are systematically more tolerant. It also demonstrates that heterospecific information is not treated equally during development. We suggest that post-imaginal learning, template reforming and decision making are more precisely tuned when the two species' chemical complexes are similar.     

Fungal laccases: from structure-activity studies to environmental applications

Laccases are multicopper oxidases mainly secreted by filamentous fungi. Producing radical forms from organic substrates, they are involved in numerous reactions leading to the degradation and polymerization of xenobiotics. Our studies have led to a better knowledge of the structural, catalytic and genetic properties of laccases and allowed to develop a strategy for their evolution through genetic engineering. Here, we show that fungal laccases, wild or engineered, may be potent tools to develop bioremediation processes of soils polluted by organic compounds, and assays to assess the ecotoxicological impact of these pollutants on soil fungi.     

Modelling the influence of demographic parameters on group structure in social species with dispersal asymmetry and group fission

Female philopatry characterizes many mammal populations subdivided into social groups. Fission of these social groups is a relatively discrete event in the life of groups or of individuals, leading to the distribution of females among several newly formed groups. Fission is an important event because it can be a way for females to disperse. Group fissions have rarely been observed and their modalities generally remain poorly known, the best-documented species being primates. Most group fissions occur along lines of maternal relatedness, but the death of a matriarch may disrupt the cohesion within a matriline, inducing separation of sisters, accompanied by their descendants, when a group splits. Our model shows that the numbers and sizes of matrilines within groups depend on the precise demographic parameters and age structure of a population and not only on its rate of increase. For comparable population-growth periods, high survival rates of adult females induce an increase in the sizes of matrilines, whereas high survival rates of immature individuals induce an increase in the numbers of matrilines. Following fission, groups of a given size included, in the first case, only a few large matrilines, whereas in the second case, they consisted mainly of many small matrilines. The present study constitutes a preliminary stage, before modelling consequences of demographic structure of groups or populations on their genetic structure.