Genetics and public health - evolution, or revolution?

During the 19th and early 20th century, public health and genetics shared common ground through similar approaches to health promotion in the population. By the mid-20th century there was a division between public health and genetics, with eugenicists estranged and clinical genetics focused on single gene disorders, usually only relevant to small numbers of people. Now through a common interest in the aetiology of complex diseases such as heart disease and cancer, there is a need for people working in public health and genetics to collaborate. This is not a comfortable convergence for many, particularly those in public health. Nine main concerns are reviewed: fear of eugenics; genetic reductionism; predictive power of genes; non-modifiable risk factors; rights of individuals compared with populations; resource allocation; commercial imperative; discrimination; and understanding and education. This paper aims to contribute to the thinking and discussion about an evolutionary, multidisciplinary approach to understanding, preventing, and treating complex diseases.

Genes and song : genetic and social connections in fragmented habitat in a woodland bird with limited dispersal

Understanding the processes leading to population declines in fragmented landscapes is essential for successful conservation management. However, isolating the influence of disparate processes, and dispersal in particular, is challenging. The Grey Shrike-thrush, Colluricincla harmonica, is a sedentary woodland-dependent songbird, with learned vocalizations whose incidence in suitable habitat patches falls disproportionally with decline in tree cover in the landscape. Although it has been suggested that gaps in tree cover might act as barriers to its dispersal, the species remains in many remnants of native vegetation in agricultural landscapes, suggesting that it may have responded to habitat removal and fragmentation by maintaining or even increasing dispersal distances. We quantified population connectivity of the Grey Shrike-thrush in a system fragmented over more than 120 years using genetic (microsatellites) and acoustic (song types) data. First, we tested for population genetic and acoustic structure at regional and local scales in search of barriers to dispersal or gene flow and signals of local spatial structuring indicative of restricted dispersal or localized acoustic similarity. Then we tested for effects of habitat loss and fragmentation on genetic and acoustic connectivity by fitting alternative models of mobility (isolation-by-distance [the null model] and reduced and increased movement models) across treeless vs. treed areas. Birds within 5 km of each other had more similar genotypes and song types than those farther away, suggesting that dispersal and song matching are limited in the region. Despite restricted dispersal detected for females (but not males), populations appeared to be connected by gene flow and displayed some cultural (acoustic) connectivity across the region. Fragmentation did not appear to impact greatly the dispersal of the Grey Shrike-thrush: none of the mobility models fit the genetic distances of males, whereas for females, an isolation-by-distance model could not be rejected in favor of the models of reduced or increased movement through treeless gaps. However, dissimilarities of the song types were more consistent with the model of reduced cultural connectivity through treeless areas, suggesting that fragmentation impedes song type sharing in the Grey Shrike-thrush. Our paper demonstrates that habitat fragmentation hinders important population processes in an Australian woodland bird even though its dispersal is not detectably impacted.

How many seabirds do we need to track to define home-range area?

In recent years, marine predator and seabird tracking studies have become ever more popular. However, they are often conducted without first considering how many individuals should be tracked and for how long they should be tracked in order to make reliable predictions of a population's home-range area. Home-range area analysis of two seabird-tracking data sets was used to define the area of active use (where birds spent 100% of their time) and the core foraging area (where birds spent 50% of their time). Analysis was conducted on the first foraging trip undertaken by the birds and then the first two, three and four foraging trips combined. Appropriate asymptotic models were applied to the data, and the calculated home-range areas were plotted as a function of an increasing number of individuals and trips included in the sample. Data were extrapolated from these models to predict the area of active use and the core foraging area of the colonies sampled. Significant variability was found in the home-range area predictions made by analysis of the first foraging trip and the first four foraging trips combined. For shags, the first foraging trip predicted a 56% smaller area of active use when compared to the predictions made by combining the first four foraging trips. For kittiwakes, a 43% smaller area was predicted when comparing the first foraging trip with the four combined trips. The number of individuals that would be required to predict the home range area of the colony depends greatly on the number of trips included in the analysis. This analysis predicted that 39 (confidence interval 29-73) shags and 83 (CI: 109-161) kittiwakes would be required to predict 95% of the area of active use when the first four foraging trips are included in the sample compared with 135 (CI 96-156) shags and 248 (164-484) kittiwakes when only the first trip is included in the analysis. Synthesis and applications. Seabird and marine mammal tracking studies are increasingly being used to aid the designation of marine conservation zones and to predict important foraging areas. We suggest that many studies may be underestimating the size of these foraging areas and that better estimates could be made by considering both the duration and number of data logger deployments. Researchers intending to draw conclusions from tracking data should conduct a similar analysis of their data as used in this study to determine the reliability of their home-range area predictions.

High genetic diversity is not essential for successful introduction

Some introduced populations thrive and evolve despite the presumed loss of diversity at introduction. We aimed to quantify the amount of genetic diversity retained at introduction in species that have shown evidence of adaptation to their introduced environments. Samples were taken from native and introduced ranges of Arctotheca populifolia and Petrorhagia nanteuilii. Using microsatellite data, we identified the source for each introduction, estimated genetic diversity in native and introduced populations and calculated the amount of diversity retained in introduced populations. These values were compared to those from a literature review of diversity in native, confamilial populations and to estimates of genetic diversity retained at introduction. Gene diversity in the native range of both species was significantly lower than for confamilials. We found that, on average, introduced populations showing evidence of adaptation to their new environments retained 81% of the genetic diversity from the native range. Introduced populations of P. nanteuilii had higher genetic diversity than found in the native source populations, whereas introduced populations of A. populifolia retained only 14% of its native diversity in one introduction and 1% in another. Our literature review has shown that most introductions demonstrating adaptive ability have lost diversity upon introduction. The two species studied here had exceptionally low native range genetic diversity. Further, the two introductions of A. populifolia represent the largest percentage loss of genetic diversity in a species showing evidence of substantial morphological change in the introduced range. While high genetic diversity may increase the likelihood of invasion success, the species examined here adapted to their new environments with very little neutral genetic diversity. This finding suggests that even introductions founded by small numbers of individuals have the potential to become invasive.

Consensus guidelines for implementation of quality processes to prevent invasive fungal disease and enhanced surveillance measures during hospital building works, 2014

Healthcare-associated fungal outbreaks impose a substantial economic burden on the health system and typically result in high patient morbidity and mortality, particularly in the immunocompromised host. As the population at risk of invasive fungal infection continues to grow due to the increased burden of cancer and related factors, the need for hospitals to employ preventative measures has become increasingly important. These guidelines outline the standard quality processes hospitals need to accommodate into everyday practice and at times of healthcare-associated outbreak, including the role of antifungal stewardship programmes and best practice environmental sampling. Specific recommendations are also provided to help guide the planning and implementation of quality processes and enhanced surveillance before, during and after high-risk activities, such as hospital building works. Areas in which information is still lacking and further research is required are also highlighted.

Population genetic structure of the red fox (Vulpes vulpes) in the UK

The red fox (Vulpes vulpes) is common and widely distributed within the UK. It is a carrier or potential carrier of numerous zoonotic diseases. Despite this, there are no published reports on the population genetics of foxes in Britain. In this study, we aim to provide an insight into recent historical movement of foxes within Britain, as well as a current assessment of the genetic diversity and gene flow within British populations. We used 14 microsatellite markers to analyse 501 red fox samples originating from England, southern Scotland and northern France. High genetic diversity was evident within the sample set as a whole and limited population genetic structure was present in British samples analysed. Notably, STRUCTURE analysis found support of four population clusters, one of which grouped two southern England sampling areas with the nearby French samples from Calais, indicating recent (post-formation of the Channel) mixing of British and French populations. This may coincide with reports of large-scale translocations of foxes into Britain during the nineteenth century for sport hunting. Other STRUCTURE populations may be related to geographic features or to cultural practices such as fox hunting. In addition, the two British urban populations analysed showed some degree of differentiation from their local rural counterparts.

What are we missing about marine invasions? Filling in the gaps with evolutionary genomics

Research on invasion biology has been largely dominated by studies on the ecological effects of invasion events, although recently, evolutionary processes have been shown to be important to invasion success. This is largely attributed to novel genomic tools that provide new opportunities to unravel the natural history, taxonomy, and invasion pathways of invasive species, as well as the genetic basis of adaptive traits that allow them to expand within and beyond their native range. Despite these advances and the growing literature of genomic research on terrestrial pests, these tools have not been widely applied to marine invasive species. This is in part due to the perception that high levels of dispersal and connectivity in many invasive marine species can limit the opportunity for local adaptation. However, there is growing evidence that even in species with high dispersal potential, significant site-specific adaptation can occur. We review how these “omic” tools provide unprecedented opportunities to characterise the role of adaptive variation, physiological tolerance, and epigenetic processes in determining the success of marine invaders. Yet, rapid range expansion in invasions can confound the analysis of genomic data, so we also review how data should be properly analysed and carefully interpreted under such circumstances. Although there are a limited number of studies pioneering this research in marine systems, this review highlights how future studies can be designed to integrate ecological and evolutionary information. Such datasets will be imperative for the effective management of marine pests.

Social structure and landscape genetics of the endemic New Caledonian ant Leptomyrmex pallens Emery, 1883 (Hymenoptera: Formicidae: Dolichoderinae), in the context of fire-induced rainforest fragmentation

Habitat fragmentation is a major threat to biodiversity, as it can alter ecological processes at various spatial and trophic scales. At the species level, fragmentation leading to the isolation of populations can trigger reductions in genetic diversity, potentially having detrimental effects on population fitness, adaptability and ultimately population persistence. Leptomyrmex pallens is a widespread rainforest ant endemic to New Caledonia but now confined to habitat patches that have been fragmented by anthropogenic fire regimes over the last 200 years. We investigated the social structure of L. pallens in the Aoupinié region (c.a. 4900 ha), and assessed the impacts of habitat fragmentation on its population genetic structure. Allele frequencies at 13 polymorphic microsatellite loci were compared among 411 worker ants from 21 nests distributed across the region. High within-nest relatedness (r = 0.70 ± 0.02), and a single queen found in 38 % of the nests by pedigree analysis indicate that the species is monogynous to weakly polygynous. Estimates of gene flow and genetic structure across the region were subsequently determined using a combined dataset of single workers per nest and of unrelated foraging workers. These estimates coupled with a comprehensive landscape genetic analysis revealed no evidence of significant population structure or habitat effects, suggesting that the Aoupinié region harbours a single panmictic population. In contrast, analyses of mitochondrial DNA sequence data revealed a high degree of genetic structuring, indicating limited maternal gene flow and suggesting that gene flow among nests is driven primarily by winged males. Overall these findings suggest that fire-induced habitat fragmentation has had little impact on the population dynamics of L. pallens. Additional studies of less mobile species should therefore be conducted to gain further insights into fire related disturbances on the unique biodiversity and function of New Caledonian ecosystems.

Strong genetic structure corresponds to small-scale geographic breaks in the Australian alpine grasshopper Kosciuscola tristis

BACKGROUND: Mountain landscapes are topographically complex, creating discontinuous 'islands' of alpine and sub-alpine habitat with a dynamic history. Changing climatic conditions drive their expansion and contraction, leaving signatures on the genetic structure of their flora and fauna. Australia's high country covers a small, highly fragmented area. Although the area is thought to have experienced periods of relative continuity during Pleistocene glacial periods, small-scale studies suggest deep lineage divergence across low-elevation gaps. Using both DNA sequence data and microsatellite markers, we tested the hypothesis that genetic partitioning reflects observable geographic structuring across Australia's mainland high country, in the widespread alpine grasshopper Kosciuscola tristis (Sjösted). RESULTS: We found broadly congruent patterns of regional structure between the DNA sequence and microsatellite datasets, corresponding to strong divergence among isolated mountain regions. Small and isolated mountains in the south of the range were particularly distinct, with well-supported divergence corresponding to climate cycles during the late Pliocene and Pleistocene. We found mixed support, however, for divergence among other mountain regions. Interestingly, within areas of largely contiguous alpine and sub-alpine habitat around Mt Kosciuszko, microsatellite data suggested significant population structure, accompanied by a strong signature of isolation-by-distance. CONCLUSIONS: Consistent patterns of strong lineage divergence among different molecular datasets indicate genetic breaks between populations inhabiting geographically distinct mountain regions. Three primary phylogeographic groups were evident in the highly fragmented Victorian high country, while within-region structure detected with microsatellites may reflect more recent population isolation. Despite the small area of Australia's alpine and sub-alpine habitats, their low topographic relief and lack of extensive glaciation, divergence among populations was on the same scale as that detected in much more extensive Northern hemisphere mountain systems. The processes driving divergence in the Australian mountains might therefore differ from their Northern hemisphere counterparts.

Critically low levels of genetic diversity in fragmented populations of the endangered Glenelg spiny freshwater crayfish Euastacus bispinosus

The Glenelg spiny freshwater crayfish Euastacus bispinosus is a large endangered freshwater invertebrate of southeastern Australia that has suffered major population declines over the last century. Disjunct populations in the state of South Australia are in a particularly critical condition, restricted to a few isolated rising-spring habitats and in an ongoing state of decline. We assessed genetic diversity and gene flow within E. bispinosus across its current range using allele frequencies from 11 nuclear microsatellite loci and DNA sequence data from a single mitochon -drial locus (cytochrome oxidase subunit I). Populations were characterized by low levels of genetic diversity and found to be highly structured, with gene flow restricted both within and across catchments, highlighting the species' vulnerability to further habitat fragmentation and the importance of managing environmental threats on local scales across its current natural range. South Australian populations were characterized by critically low levels of genetic diversity generally, highlighting their potential vulnerability to localized extinction. Holistic conservation efforts are necessary to conserve populations, including local habitat management and, potentially, translocations to increase genetic diversity and evolutionary potential, and reduce possible inbreeding effects and the threat of extinction.

Characterisation of the complete mitochondrial genome and 13 microsatellite loci through next-generation sequencing for the New Caledonian spider-ant Leptomyrmex pallens

The complete mitochondrial genome and a set of polymorphic microsatellite markers were identified by 454 pyrosequencing (1/16th of a plate) for the New Caledonian rainforest spider-ant Leptomyrmex pallens. De novo genome assembly recovered the entire mitochondrial genome with mean coverage of 8.9-fold (range 1-27). The mitogenome consists of 15,591 base pairs including 13 protein-coding genes, 2 ribosomal subunit genes, 22 transfer RNAs, and a non-coding AT-rich region. The genome arrangement is typical of insect taxa and very similar to the only other published ant mitogenome from the Solenopsis genus, with the main differences consisting of translocations and inversions of tRNAs. A total of 13 polymorphic loci were also characterized using 41 individuals from a single population in the Aoupinié region, corresponding to workers from 21 nests and 16 foraging workers. We observed moderate genetic variation across most loci (mean number of alleles per locus = 4.50; mean expected heterozygosity = 0.53) with evidence of only two loci deviating significantly from Hardy-Weinberg equilibrium due to null alleles. Marker independence was confirmed with tests for linkage disequilibrium. Most loci cross amplified for three additional Leptomyrmex species. The annotation of the mitogenome and characterization of microsatellite markers will provide useful tools for assessing the colony structure, population genetic patterns, and dispersal strategy of L. pallens in the context of rainforest fragmentation in New Caledonia. Furthermore, this paper confirms a recent line of evidence that comprehensive mitochondrial data can be obtained relatively easily from small next-generation sequencing analyses. Greater synthesis of next-generation sequencing data will play a significant role in expanding the taxonomic representation of mitochondrial genome sequences.

Lack of genetic divergence found with microsatellite DNA markers in the tarakihi Nemadactylus macropterus

Three classes of molecular markers are commonly employed during population genetic studies of marine taxa: allozymes, mitochondrial DNA (mtDNA), and microsatellite DNA. These markers differ in their levels of polymorphism, and the ease and cost of their application. Nemadactylus macropterus is a commercially important marine fish from New Zealand and southern Australia that has been the subject of genetic (allozyme, mtDNA) and non-genetic (otolith microchemistry, larval advection) studies of stock structure. We collected microsatellite DNA data from this species to compare the utility of these molecular markers with those genetic methods previously applied to N. macropterus. Microsatellites did not indicate significant divergence among Australian samples, or between Australian and New Zealand samples. The latter is incongruent with the allozyme and mtDNA studies, and it is suggested that allelic homoplasy has hindered the resolution of population structure when using microsatellites.

Low allozyme variation in snapper, Pagrus auratus, in Victoria, Australia

The population genetic structure of snapper, Pagrus auratus (Bloch and Schneider), in Victoria was investigated using six polymorphic allozyme loci. Fish were sampled from four sites in Victoria and single locations in South Australia, Western Australia and New Zealand. Although there were distinct genetic differences between the snapper populations from each of the Australian states and New Zealand, only minor and largely insignificant differences were detected among Victorian populations. The results are consistent with previous genetic and tagging studies that indicate no mixing between snapper stocks in Victoria and Spencer Gulf in South Australia. This justifies separate management of the snapper fisheries in these regions. The low levels of polymorphism and heterozygosity in Victorian snapper suggest an isolation by distance model of population structure rather than one of discrete subpopulations.

Inheritance of molecular markers and sex in the Australian freshwater crayfish, Cherax destructor Clark

Inheritance of three kinds of molecular genetic markers (mtDNA, random-amplified polymorphic DNAs (RAPDs) and allozymes) and sex were investigated in crossbreeding experiments between three populations of the Australian freshwater crayfish Cherax destructor. Crossbreeding did not disrupt the ively maternally inherited, and allozyme and RAPD markers were transmitted following expected Mendelian principles for co-dominant and dominant traits respectively. Unlike these three markers, sex ratios were found to be distorted by crossbreeding in some families. Two crossbred families produced only females. The implications of these findings for freshwater crayfish population genetics, taxonomy and aquaculture are discussed.