Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation.

Mutations of mitochondrial DNA (mtDNA) are an important cause of genetic disease. We describe a family with an unusual homoplasmic mutation that resulted in six neonatal deaths and one surviving child with Leigh syndrome. The mother is clinically normal, but a severe biochemical and molecular genetic defect was present in both a fatally affected child and the mother. This family highlights the role of homoplasmic mt-tRNA mutations in genetic disease.     

A Study of Melt Flow Analysis of an ABS-Iron Composite in Fused Deposition Modelling Process

Fused deposition modelling (FDM) is a filament based rapid prototyping system which offers the possibility of introducing new composite material for the FDM process as long as the new material can be made in feedstock filament form. Swinburne has been undertaking extensive research in development of new composite materials involving acrylonitrile-butadiene-styrene (ABS) and other materials including metals. In order to predict the behaviour of new ABS based composite materials in the course of FDM process, it is necessary to investigate the flow of the composite material in liquefier head. No such study is available considering the geometry of the liquefier head. This paper presents 2-D and 3-D numerical analysis of melt flow behaviour of a representative ABS-iron composite through the 90-degree bent tube of the liquefier head of the fused deposition modelling process using ANSYS FLOTRAN and CFX finite element packages. Main flow parameters including temperature, velocity, and pressure drop have been investigated. Filaments of the filled ABS have been fabricated and characterized to verify the possibility of prototyping using the new material on the current FDM machine. Results provide promising information in developing the melt flow modelling of metal-plastic composites and in optimising the FDM parameters for better part quality with such composites.     

New species of Australian arid zone chelonine wasps from the genera Phanerotoma and Ascogaster (Hymenoptera: Braconidae) informed by the ‘Bush Blitz’ surveys of national reserves

Here we focus on the poorly studied braconid wasp subfamily Cheloninae for the arid zone of the Australian continent, using material, in part, resulting from comprehensive surveys of three arid zone reserves. The Bush Blitz programme is a multi-institutional project with the aim of documenting the diversity of the flora and fauna in Australia’s National Reserve System, with describing new species being a key focus of the programme. In total, 11 species from the genera Ascogaster and Phanerotoma are treated, with species’ delimitation based on both molecular and morphological data. Two species are redescribed (Phanerotoma behriae Zettel, 1988a and P. decticauda Zettel, 1988a) and nine species are described as new (Ascogaster brevivena sp. nov., A. ferruginegaster sp. nov., A. prolixogaster sp. nov., A. rubriscapa sp. nov., Phanerotoma bonbonensis sp. nov., P. bushblitz sp. nov., P. lutea sp. nov., P. nigriscapulata sp. nov. and P. witchelinaensis sp. nov.). Keys to the arid zone species of these two genera are provided, along with a species richness estimation of Australian chelonine wasps.     

Forecasting load-duration curves

A new method is proposed for forecasting electricity load-duration curves. The approach first forecasts the load curve and then uses the resulting predictive densities to forecast the load-duration curve. A virtue of this procedure is that both load curves and load-duration curves can be predicted using the same model, and confidence intervals can be generated for both predictions. The procedure is applied to the problem of predicting New Zealand electricity consumption. A structural time-series model is used to forecast the load curve based on half-hourly data. The model is tailored to handle effects such as daylight savings, holidays and weekends, as well as trend, annual, weekly and daily cycles. Time-series methods, including Kalman filtering, smoothing and prediction, are used to fit the model and to achieve the desired forecasts of the load-duration curve.     

Scaling laws of marine predator search behaviour

Many free-ranging predators have to make foraging decisions with little, if any, knowledge of present resource distribution and availability. The optimal search strategy they should use to maximize encounter rates with prey in heterogeneous natural environments remains a largely unresolved issue in ecology. Lévy walks are specialized random walks giving rise to fractal movement trajectories that may represent an optimal solution for searching complex landscapes. However, the adaptive significance of this putative strategy in response to natural prey distributions remains untested. Here we analyse over a million movement displacements recorded from animal-attached electronic tags to show that diverse marine predators-sharks, bony fishes, sea turtles and penguins-exhibit Lévy-walk-like behaviour close to a theoretical optimum. Prey density distributions also display Lévy-like fractal patterns, suggesting response movements by predators to prey distributions. Simulations show that predators have higher encounter rates when adopting Lévy-type foraging in natural-like prey fields compared with purely random landscapes. This is consistent with the hypothesis that observed search patterns are adapted to observed statistical patterns of the landscape. This may explain why Lévy-like behaviour seems to be widespread among diverse organisms, from microbes to humans, as a 'rule' that evolved in response to patchy resource distributions.     

Modest stabilization by most hydrogen-bonded side-chain interactions in membrane proteins

Understanding the energetics of molecular interactions is fundamental to all of the central quests of structural biology including structure prediction and design, mapping evolutionary pathways, learning how mutations cause disease, drug design, and relating structure to function. Hydrogen-bonding is widely regarded as an important force in a membrane environment because of the low dielectric constant of membranes and a lack of competition from water. Indeed, polar residue substitutions are the most common disease-causing mutations in membrane proteins. Because of limited structural information and technical challenges, however, there have been few quantitative tests of hydrogen-bond strength in the context of large membrane proteins. Here we show, by using a double-mutant cycle analysis, that the average contribution of eight interhelical side-chain hydrogen-bonding interactions throughout bacteriorhodopsin is only 0.6 kcal mol(-1). In agreement with these experiments, we find that 4% of polar atoms in the non-polar core regions of membrane proteins have no hydrogen-bond partner and the lengths of buried hydrogen bonds in soluble proteins and membrane protein transmembrane regions are statistically identical. Our results indicate that most hydrogen-bond interactions in membrane proteins are only modestly stabilizing. Weak hydrogen-bonding should be reflected in considerations of membrane protein folding, dynamics, design, evolution and function.     

Proportionally more deleterious genetic variation in European than in African populations

Quantifying the number of deleterious mutations per diploid human genome is of crucial concern to both evolutionary and medical geneticists. Here we combine genome-wide polymorphism data from PCR-based exon resequencing, comparative genomic data across mammalian species, and protein structure predictions to estimate the number of functionally consequential single-nucleotide polymorphisms (SNPs) carried by each of 15 African American (AA) and 20 European American (EA) individuals. We find that AAs show significantly higher levels of nucleotide heterozygosity than do EAs for all categories of functional SNPs considered, including synonymous, non-synonymous, predicted 'benign', predicted 'possibly damaging' and predicted 'probably damaging' SNPs. This result is wholly consistent with previous work showing higher overall levels of nucleotide variation in African populations than in Europeans. EA individuals, in contrast, have significantly more genotypes homozygous for the derived allele at synonymous and non-synonymous SNPs and for the damaging allele at 'probably damaging' SNPs than AAs do. For SNPs segregating only in one population or the other, the proportion of non-synonymous SNPs is significantly higher in the EA sample (55.4%) than in the AA sample (47.0%; P < 2.3 x 10(-37)). We observe a similar proportional excess of SNPs that are inferred to be 'probably damaging' (15.9% in EA; 12.1% in AA; P < 3.3 x 10(-11)). Using extensive simulations, we show that this excess proportion of segregating damaging alleles in Europeans is probably a consequence of a bottleneck that Europeans experienced at about the time of the migration out of Africa.