Redescription and ecology of the endemic Tasmanian Scincid lizards Leiolopisma microlepidotum and L. Pretiosum

Two species of scincid lizard, both hitherto identified as Leiolopisma pretiosum, occur syntopically on Mt Wellington, near Hobart, Tasmania. One of these is conspecific with the holotype of Moeoa pretiosa O'Shaughnessy, 1874, while the other is conspecific with the holotype of Mocoa microlepidota O'Shaughnessy, 1874, which has been regarded as a synonym of L. pretiosum since 1887. The two species are redescribed as members of an endemic Tasmanian subgroup within the Australian radiation of the genus Leiolopisma (sensu Greer 1982). Leiolopisma mierolepidotum is confined to disjunct alpine populations in the south and west of Tasmania. It differs from L. pretiosum in colour pattern, larger size and more robust, less depressed head and body. Aspects of the biology and ecology of these and other Tasmanian endemic Leiolopisma species are also discussed

Inheritance of Telomere Length in a Bird

Telomere dynamics are intensively studied in human ageing research and epidemiology, with many correlations reported between telomere length and age-related diseases, cancer and death. While telomere length is influenced by environmental factors there is also good evidence for a strong heritable component. In human, the mode of telomere length inheritance appears to be paternal and telomere length differs between sexes, with females having longer telomeres than males. Genetic factors, e.g. sex chromosomal inactivation, and non-genetic factors, e.g. antioxidant properties of oestrogen, have been suggested as possible explanations for these sex-specific telomere inheritance and telomere length differences. To test the influence of sex chromosomes on telomere length, we investigated inheritance and sex-specificity of telomere length in a bird species, the kakapo (Strigops habroptilus), in which females are the heterogametic sex (ZW) and males are the homogametic (ZZ) sex. We found that, contrary to findings in humans, telomere length was maternally inherited and also longer in males. These results argue against an effect of sex hormones on telomere length and suggest that factors associated with heterogamy may play a role in telomere inheritance and sex-specific differences in telomere length

Design Principles for Ligand-Sensing, Conformation-Switching Ribozymes

Nucleic acid sensor elements are proving increasingly useful in biotechnology and biomedical applications. A number of ligand-sensing, conformational-switching ribozymes (also known as allosteric ribozymes or aptazymes) have been generated by some combination of directed evolution or rational design. Such sensor elements typically fuse a molecular recognition domain (aptamer) with a catalytic signal generator (ribozyme). Although the rational design of aptazymes has begun to be explored, the relationships between the thermodynamics of aptazyme conformational changes and aptazyme performance in vitro and in vivo have not been examined in a quantitative framework. We have therefore developed a quantitative and predictive model for aptazymes as biosensors in vitro and as riboswitches in vivo. In the process, we have identified key relationships (or dimensionless parameters) that dictate aptazyme performance, and in consequence, established equations for precisely engineering aptazyme function. In particular, our analysis quantifies the intrinsic trade-off between ligand sensitivity and the dynamic range of activity. We were also able to determine how in vivo parameters, such as mRNA degradation rates, impact the design and function of aptazymes when used as riboswitches. Using this theoretical framework we were able to achieve quantitative agreement between our models and published data. In consequence, we are able to suggest experimental guidelines for quantitatively predicting the performance of aptazyme-based riboswitches. By identifying factors that limit the performance of previously published systems we were able to generate immediately testable hypotheses for their improvement. The robust theoretical framework and identified optimization parameters should now enable the precision design of aptazymes for biotechnological and clinical applications

Accuracy of Predicting the Genetic Risk of Disease Using a Genome-Wide Approach

Background - The prediction of the genetic disease risk of an individual is a powerful public health tool. While predicting risk has been successful in diseases which follow simple Mendelian inheritance, it has proven challenging in complex diseases for which a large number of loci contribute to the genetic variance. The large numbers of single nucleotide polymorphisms now available provide new opportunities for predicting genetic risk of complex diseases with high accuracy. Methodology/Principal Findings - We have derived simple deterministic formulae to predict the accuracy of predicted genetic risk from population or case control studies using a genome-wide approach and assuming a dichotomous disease phenotype with an underlying continuous liability. We show that the prediction equations are special cases of the more general problem of predicting the accuracy of estimates of genetic values of a continuous phenotype. Our predictive equations are responsive to all parameters that affect accuracy and they are independent of allele frequency and effect distributions. Deterministic prediction errors when tested by simulation were generally small. The common link among the expressions for accuracy is that they are best summarized as the product of the ratio of number of phenotypic records per number of risk loci and the observed heritability. Conclusions/Significance - This study advances the understanding of the relative power of case control and population studies of disease. The predictions represent an upper bound of accuracy which may be achievable with improved effect estimation methods. The formulae derived will help researchers determine an appropriate sample size to attain a certain accuracy when predicting genetic ris

Sustainability of bioenergy – Mapping the risks & benefits to inform future bioenergy systems

Bioenergy is widely included in energy strategies for its GHG mitigation potential. Bioenergy technologies will likely have to be deployed at scale to meet decarbonisation targets, and consequently biomass will have to be increasingly grown/mobilised. Sustainability risks associated with bioenergy may intensify with increasing deployment and where feedstocks are sourced through international trade. This research applies the Bioeconomy Sustainability Indicator Model (BSIM) to map and analyse the performance of bioenergy across 126 sustainability issues, evaluating 16 bioenergy case studies that reflect the breadth of biomass resources, technologies, energy vectors and bio-products. The research finds common trends in sustainability performance across projects that can inform bioenergy policy and decision making. Potential sustainability benefits are identified for People (jobs, skills, income, energy access); for Development (economy, energy, land utilisation); for Natural Systems (soil, heavy metals), and; for Climate Change (emissions, fuels). Also, consistent trends of sustainability risks where focus is required to ensure the viability of bioenergy projects, including for infrastructure, feedstock mobilisation, techno-economics and carbon stocks. Emission mitigation may be a primary objective for bioenergy, this research finds bioenergy projects can provide potential benefits far beyond emissions - there is an argument for supporting projects based on the ecosystem services and/or economic stimulation they may deliver. Also given the broad dynamics and characteristics of bioenergy projects, a rigid approach of assessing sustainability may be incompatible. Awarding ‘credit’ across a broader range of sustainability indicators in addition to requiring minimum performances in key areas, may be more effective at ensuring bioenergy sustainability

Sustainable prevention of obesity through integrated strategies: The SPOTLIGHT project's conceptual framework and design

<p>Abstract</p> <p>Background</p> <p>The prevalence of overweight and obesity in Europe is high. It is a major cause of the overall rates of many of the main chronic (or non communicable) diseases in this region and is characterized by an unequal socio-economic distribution within the population. Obesity is largely determined by modifiable lifestyle behaviours such as low physical activity levels, sedentary behaviour and consumption of energy dense diets. It is increasingly being recognised that effective responses must go beyond interventions that only focus on a specific individual, social or environmental level and instead embrace system-based multi-level intervention approaches that address both the individual and environment. The EU-funded project “sustainable prevention of obesity through integrated strategies” (SPOTLIGHT) aims to increase and combine knowledge on the wide range of determinants of obesity in a systematic way, and to identify multi-level intervention approaches that are strong in terms of Reach, Efficacy, Adoption, Implementation and Maintenance (RE-AIM).</p> <p>Methods/Design</p> <p>SPOTLIGHT comprises a series of systematic reviews on: individual-level predictors of success in behaviour change obesity interventions; social and physical environmental determinants of obesity; and on the RE-AIM of multi-level interventions. An interactive web-atlas of currently running multi-level interventions will be developed, and enhancing and impeding factors for implementation will be described. At the neighbourhood level, these elements will inform the development of methods to assess obesogenicity of diverse environments, using remote imaging techniques linked to geographic information systems. The validity of these methods will be evaluated using data from surveys of health and lifestyles of adults residing in the neighbourhoods surveyed. At both the micro- and macro-levels (national and international) the different physical, economical, political and socio-cultural elements will be assessed.</p> <p>Discussion</p> <p>SPOTLIGHT offers the potential to develop approaches that combine an understanding of the obesogenicity of environments in Europe, and thus how they can be improved, with an appreciation of the individual factors that explain why people respond differently to such environments. Its findings will inform governmental authorities and professionals, academics, NGOs and private sector stakeholders engaged in the development and implementation of policies to tackle the obesity epidemic in Europe.</p

Satisfaction survey with DNA cards method to collect genetic samples for pharmacogenetics studies

BACKGROUND: Pharmacogenetic studies are essential in understanding the interindividual variability of drug responses. DNA sample collection for genotyping is a critical step in genetic studies. A method using dried blood samples from finger-puncture, collected on DNA-cards, has been described as an alternative to the usual venepuncture technique. The purpose of this study is to evaluate the implementation of the DNA cards method in a multicentre clinical trial, and to assess the degree of investigators' satisfaction and the acceptance of the patients perceived by the investigators. METHODS: Blood samples were collected on DNA-cards. The quality and quantity of DNA recovered were analyzed. Investigators were questioned regarding their general interest, previous experience, safety issues, preferences and perceived patient satisfaction. RESULTS: 151 patients' blood samples were collected. Genotyping of GST polymorphisms was achieved in all samples (100%). 28 investigators completed the survey. Investigators perceived patient satisfaction as very good (60.7%) or good (39.3%), without reluctance to finger puncture. Investigators preferred this method, which was considered safer and better than the usual methods. All investigators would recommend using it in future genetic studies. CONCLUSION: Within the clinical trial setting, the DNA-cards method was very well accepted by investigators and patients (in perception of investigators), and was preferred to conventional methods due to its ease of use and safety