New contributions to the study of common double mutants in the human <Emphasis Type="Italic">LDL</Emphasis> receptor gene

Variations in the gene encoding the low-density lipoprotein receptor (LDLR) can cause familial hypercholesterolemia (FH), one of the most common inherited metabolic disorders in humans. The functional effects of the p.Gln92Glu and p.Asn564His alterations are predicted as benign, but the c.313 + 1G>C and p.Lys799_Phe801del changes are believed to cause disease. Although p.Gln92Glu and c.313 + 1G>C have been observed only in Spain, p.Asn564His and p.Lys799_Phe801del are widespread in Western Europe. In order to estimate the ages (t generations) of these four variants of the gene, to determine their possible origin and to consider the influence of age and selective pressure on their spread, we analyzed 86 healthy individuals and 126 FH patients in Spain. Most of the FH patients investigated carried two of these four LDLR variants simultaneously, while only one patient carried three of them simultaneously. Haplotype analyses were based on five LDLR SNPs: c.81T>C, c.1413G>A, c.1725C>T, c.1959T>C and c.2232G>A. The results suggest that p.Gln92Glu and c.313 + 1G>C arose at about the same time (99 and 103 generations ago, respectively) in the CACTG haplotype and that p.Asn564His and p.Lys799_Phe801del appeared in the CGCCG haplotype and might be slightly more recent variations (92 and 95 generations ago, respectively). Low selective pressures could explain the maintenance of these variants in spite of their ages. The origin of p.Gln92Glu and c.313 + 1G>C appears to be in Spain whereas p.Asn564His and p.Lys799_Phe801del could have been introduced in Spain by Celtic migrations in the seventh to fifth centuries BC.     

Acid mine drainage pollution in the Tinto and Odiel rivers (Iberian Pyrite Belt, SW Spain) and bioavailability of the transported metals to the Huelva Estuary

The Tinto and Odiel rivers are seriously affected by acid mine drainage (AMD) from the long-term mining activities in Iberian Pyrite Belt (IPB). As a consequence, the Huelva estuary is heavily contaminated by metals and metalloids. This study presents an estimation of the seasonal variation, and the dissolved contaminant load transported by both rivers from February 2002 to September 2004. Besides, toxicity and bioaccumulation tests with the sediments of the estuary have been conducted in order to measure the mobility of the toxic metals. Results show that the Tinto and Odiel rivers transport enormous quantities of dissolved metals to the estuary: 7900 t yr(-1) of Iron (Fe), 5800 t yr(-1) Aluminium (Al), 3500 t yr(-1) Zinc (Zn), 1700 t yr(-1) Copper (Cu), 1600 t yr(-1) Manganese (Mn) and minor quantities of other metals and metalloids. These values represent 37% of the global gross flux of dissolved Zn transported by rivers in to the ocean, and 15% of the global gross flux of dissolved Cu. These metals and metalloids usually sink in the estuarine sediments due to pH and salinity changes. The increase of salinity in the estuary favours the adsorption and trapping of metals. For this reason, the mobility and bioavailability of metals such as Zn, Cd and Cu is higher in sediments located in the area of fresh water influence that in sediments located in the marine influenced area of the estuary, showing a higher percentage of fractionation and bioaccumulation of these metals in the station influenced by the fresh water environment.     

Using expert elicitation to define successful adaptation to climate change

This paper develops definitions of adaptation and successful adaptation to climate change, with a view to evaluating adaptations. There is little consensus on the definition of adapting to climate change in existing debates or on the criteria by which adaptation actions can be deemed successful or sustainable. In this paper, a variant of the Delphi technique is used to elicit expert opinion on a definition of successful adaptation to climate change. Through an iterative process, expert respondents coalesced around a definition based on risk and vulnerability and agreed that a transparent and acceptable definition should reflect impacts on sustainability. According to the final definition, agreed by the Delphi panel, successful adaptation is any adjustment that reduces the risks associated with climate change, or vulnerability to climate change impacts, to a predetermined level, without compromising economic, social, and environmental sustainability.     

Floater mortality within settlement areas can explain the Allee effect in breeding populations

The Allee effect (the positive relationship between population growth rate and population size) is a constraint of some animal populations at low numbers, which increases their likelihood of extinction because of a decrease in reproduction and/or survival. We were able to demonstrate that the Allee effect can be the result of a mortality increase affecting floaters (i.e. dispersing individuals able to enter as breeders in the reproductive population when a breeding territory or a potential mate – owner of a suitable breeding territory – becomes available). Previously, potential mechanisms underlying Allee effects were always related to the breeding portion of a population only. In contrast, our understanding of or solutions to population declines due to the Allee effects can reside elsewhere, away from breeding territories.     

Fire reduces morphospace occupation in plant communities

The two main assembly processes claimed to structure plant communities are habitat filtering and competitive interactions. The set of species growing in fire-prone communities has been filtered in such a way that species without fire-persistence traits have not successfully entered the community. Because plant traits are evolutionarily conserved and fire traits are correlated with other plant traits, communities under high fire frequency should not include all possible trait combinations, and thus the morphospace occupation by species in these communities should be lower than expected by chance (underoccupied). In contrast, communities under low fire frequency would lack the filtering factor, and thus their underoccupation of the morphospace is not expected. We test this prediction by comparing the morphospace occupation by species in communities located in the western Mediterranean Basin, five of them subject to high fire frequency (HiFi) and four to low fire frequency (LowFi). We first compile a set of morphological and functional traits for the species growing on the nine sites, then we compute the morphospace occupation of each site as a convex hull volume, and finally, to assert that our results are not a product of a random branching pattern of evolution, we simulate our traits under a null model of neutral evolution and compare the morphospace occupation of the simulated traits with the results from the empirical data. The results suggest that, as predicted, there is a clear differential morphospace occupation between communities under different fire regimes in such a way that the morphospace is underoccupied in HiFi communities only. The simulation of a neutral evolutionary model does not replicate the observed pattern of differential morphospace occupation, and thus it should be attributed to assembly processes. In conclusion, our results suggest that fire is a strong community assembling process, filtering the species that have fire-persistent traits and thus assembling phenotypically and phylogenetically clustered communities with vacant zones in the morphospace.     

4200 years of pine-dominated upland forest dynamics in west-central Mexico: human or natural legacy?

The pine-dominated forests of west-central Mexico are internationally recognized for their high biodiversity, and some areas are protected through various conservation measures including prohibition of human activity. In this region, however, there is evidence for human settlement dating back to ca. AD 1200. It is therefore unclear whether the present forest composition and structure are part of a successional stage following use by indigenous human populations during the past, or due to natural processes, such as climate. We present a study reconstructing the vegetation dynamics of pine-dominated forest over the past 4200 years using paleoecological techniques. Results from fossil pollen and charcoal indicate that, in this region, pine-dominated forests are the native vegetation type and not anthropogenically derived secondary succession. The predominant driving mechanism for the expansion of pine-dominated forest appears to be intervals of aridity and naturally induced burning. A close association is noted between pine abundance and longer-term climatic trends, including intervals of aridity between ca. 4200 and 2500, 1200 and 850, and 500 and 200 cal yr BP and shorter-term trends. Evident periodicity occurs in pine and Poaceae abundance every 80 years. These short-term quasi-periodic oscillations have been recorded in a number of lake and ocean sediments in Mexico and are thought to be linked to solar forcing resulting in drought cycles that occur at approximately the same time intervals.     

A global evaluation of metabolic theory as an explanation for terrestrial species richness gradients

We compiled 46 broadscale data sets of species richness for a wide range of terrestrial plant, invertebrate, and ectothermic vertebrate groups in all parts of the world to test the ability of metabolic theory to account for observed diversity gradients. The theory makes two related predictions: (1) In-transformed richness is linearly associated with a linear, inverse transformation of annual temperature, and (2) the slope of the relationship is near -0.65. Of the 46 data sets, 14 had no significant relationship; of the remaining 32, nine were linear, meeting prediction 1. Model I (ordinary least squares, OLS) and model II (reduced major axis, RMA) regressions then tested the linear slopes against prediction 2. In the 23 data sets having nonlinear relationships between richness and temperature, split-line regression divided the data into linear components, and regressions were done on each component to test prediction 2 for subsets of the data. Of the 46 data sets analyzed in their entirety using OLS regression, one was consistent with metabolic theory (meeting both predictions), and one was possibly consistent. Using RMA regression, no data sets were consistent. Of 67 analyses of prediction 2 using OLS regression on all linear data sets and subsets, two were consistent with the prediction, and four were possibly consistent. Using RMA regression, one was consistent (albeit weakly), and four were possibly consistent. We also found that the relationship between richness and temperature is both taxonomically and geographically conditional, and there is no evidence for a universal response of diversity to temperature. Meta-analyses confirmed significant heterogeneity in slopes among data sets, and the combined slopes across studies were significantly lower than the range of slopes predicted by metabolic theory based on both OLS and RMA regressions. We conclude that metabolic theory, as currently formulated, is a poor predictor of observed diversity gradients in most terrestrial systems.     

Evaluation of porous cup soil‐water samplers under laboratory conditions: Comparison of ceramic and PTFE cups

Three different types of soil solution samplers (two ceramic cups and PTFE) were tested in the laboratory to validate their use for collecting soil‐water samples and for monitoring the chemical composition of soil solutions. Interactions between porous materials and chemical solutions were examined under different experimental conditions for several major cations (Ca²⁺, Mg²⁺, Na⁺ and K⁺) and anions (HCO^‐ ₃, NO^‐ ₃, SO₄ ^2‐ and Cl^‐) and for several minor ions (NH⁺ ₄, NO^‐ ₄, PO₄ ^3‐and B).

The results show that ceramic cups are not inert for bicarbonate, calcium and phosphate ions. Their use is only valid for a limited number of ions such as chloride and nitrate which, however, are the most studied ions in field experiments. PTFE cups have less restrictions although their use in measuring sulphates, phosphates and ammonium presents some problems.

Choosing the appropriate type of cup depends on the objectives. In any case, laboratory experiments must be performed before installation.     

Design of water utilization systems in process plants with a single contaminant

This paper illustrates necessary conditions of optimality for single component water-using networks in process plants. These necessary conditions correspond to the optimal water allocation planning (WAP) problem that considers wastewater reuse on the basis of a single contaminant and where the objective is to minimize the total water intake. The conditions under which degenerate solutions are possible are also identified. Examples are discussed. A method that can be implemented by hand is also provided.