Linkage disequilibrium analysis in the genetically isolated Norfolk Island population

Norfolk Island is a human genetic isolate, possessing unique population characteristics that could be utilized for complex disease gene localization. Our intention was to evaluate the extent and strength of linkage disequilibrium (LD) in the Norfolk isolate by investigating markers within Xq13.3 and the NOS2A gene encoding the inducible nitric oxide synthase. A total of six microsatellite markers spanning approximately 11 Mb were assessed on chromosome Xq13.3 in a group of 56 men from Norfolk Island. Additionally, three single nucleotide polymorphisms (SNPs) localizing to the NOS2A gene were analyzed in a subset of the complex Norfolk pedigree. With the exception of two of the marker pairs, one of which is the most distantly spaced marker, all the Xq13.3 marker pairs were found to be in significant LD indicating that LD extends up to 9.5-11.5 Mb in the Norfolk Island population. Also, all SNPs studied showed significant LD in both Norfolk Islanders and Australian Caucasians, with two of the marker pairs in complete LD in the Norfolk population only. The Norfolk Island study population possesses a unique set of characteristics including founder effect, geographical isolation, exhaustive genealogical information and phenotypic data of use to cardiovascular disease risk traits. With LD extending up to 9.5-11 Mb, the Norfolk isolate should be a powerful resource for the localization of complex disease genes.

Linkage mapping of CVD risk traits in the isolated Norfolk Island population

To understand the underlying genetic architecture of cardiovascular disease (CVD) risk traits, we undertook a genome-wide linkage scan to identify CVD quantitative trait loci (QTLs) in 377 individuals from the Norfolk Island population. The central aim of this research focused on the utilization of a genetically and geographically isolated population of individuals from Norfolk Island for the purposes of variance component linkage analysis to identify QTLs involved in CVD risk traits. Substantial evidence supports the involvement of traits such as systolic and diastolic blood pressures, high-density lipoprotein-cholesterol, low-density lipoprotein-cholesterol, body mass index and triglycerides as important risk factors for CVD pathogenesis. In addition to the environmental inXuences of poor diet, reduced physical activity, increasing age, cigarette smoking and alcohol consumption, many studies have illustrated a strong involvement of genetic components in the CVD phenotype through family and twin studies. We undertook a genome scan using 400 markers spaced approximately 10 cM in 600 individuals from Norfolk Island. Genotype data was analyzed using the variance components methods of SOLAR. Our results gave a peak LOD score of 2.01 localizing to chromosome 1p36 for systolic blood pressure and replicated previously implicated loci for other CVD relevant QTLs.

Phenotypical characterisation of the isolated Norfolk Island population focusing on epidemiological indicators of cardiovascular disease

Objectives Only 193 people from Pitcairn Island, all descended from 9 ‘Bounty’ mutineers and 12 Tahitian women, moved to the uninhabited Norfolk Island in 1856. Our objective was to assess the population of Norfolk Island, several thousand km off the eastern coast of Australia, as a genetic isolate of potential use for cardiovascular disease (CVD) gene mapping. Methods A total of 602 participants, approximately two thirds of the island’s present adult population, were characterized for a panel of CVD risk factors. Statistical power and heritability were calculated. Results Norfolk Islander’s possess an increased prevalence of hypertension, obesity and multiple CVD risk factors when compared to outbred Caucasian populations. 64% of the study participants were descendents of the island’s original founder population. Triglycerides, cholesterol, and blood pressures all had heritabilities above 0.2. Conclusions The Norfolk land population is a potentially useful genetic isolate for gene mapping studies aimed at identifying CVD risk factor quantitative trait loci (QTL).

Association of oestrogen-receptor gene (ESR1) polymorphisms with migraine in the large Norfolk Island pedigree

BACKGROUND: Oestrogen receptor 1 ( ESR1) is located in region 6q25.1 and encodes a ligand-activated transcription factor composed of several domains important for hormone binding and transcription activation. Progesterone receptor ( PGR) is located in 11q22-23 and mediates the role of progesterone interacting with different transcriptional co-regulators. ESR1 and PGR have previously been implicated in migraine susceptibility. Here, we report the results of an association study of these genes in a migraine pedigree from the genetic isolate of Norfolk Island, a population descended from a small number of Isle of Man "Bounty Mutineer" and Tahitian founders.

Prevalence of chronic ocular diseases in a genetic isolate : the Norfolk Island Eye Study (NIES)

Purpose: Over 40% of the permanent population of Norfolk Island possesses a unique genetic admixture dating to Pitcairn Island in the late 18 th century, with descendents having varying degrees of combined Polynesian and European ancestry. We conducted a population-based study to determine the prevalence and causes of blindness and low vision on Norfolk Island. Methods: All permanent residents of Norfolk Island aged ≥ 15 years were invited to participate. Participants completed a structured questionnaire/interview and underwent a comprehensive ophthalmic examination including slit-lamp biomicroscopy. Results: We recruited 781 people aged ≥ 15, equal to 62% of the permanent population, 44% of whom could trace their ancestry to Pitcairn Island. No one was bilaterally blind. Prevalence of unilateral blindness (visual acuity [VA] < 6/60) in those aged ≥ 40 was 1.5%. Blindness was more common in females (P=0.049) and less common in people with Pitcairn Island ancestry (P<0.001). The most common causes of unilateral blindness were age-related macular degeneration (AMD), amblyopia, and glaucoma. Five people had low vision (Best-Corrected VA < 6/18 in better eye), with 4 (80%) due to AMD. People with Pitcairn Island ancestry had a lower prevalence of AMD (P<0.001) but a similar prevalence of glaucoma to those without Pitcairn Island ancestry. Conclusions: The prevalence of blindness and visual impairment in this isolated Australian territory is low, especially amongst those with Pitcairn Island ancestry. AMD was the most common cause of unilateral blindness and low vision. The distribution of chronic ocular diseases on Norfolk Island is similar to mainland Australian estimates.

Shadows : Re-visualising the shark. Developing a framework for hybrid photography in the illumination of nonhuman animal and ecological perspectives at Heron Island and Gladstone, Great Barrier Reef

This study investigated how and to what degree “hybrid photography”—the simultaneous use of indexical and fictional properties and strategies— innovates the representation of animals within animalcentric, ecocentric frameworks. Design theory structured this project’s Practice-led, Visual research methodology framework. Grounded theory processes articulated emerging categories of hybrid photography through systematically and comparatively treating animal photography works for reflexive analysis. Design theory then applied and clarified categories, developing practice that re-visualised shark perspectives as new ecological discourse. Shadows, a creative practice installation, realised a full-scale photographic investigation into shark and marine animal realities of a specific environment—Heron Island and Gladstone, Great Barrier Reef—facing ecological crisis from dredging and development at Gladstone Harbour. Works rendered and explored hybrid photography’s capacity for illuminating nonhuman animals, in particular, sharks, and comprise 65% of this project’s weighting. This exegetical paper offers a definition, strategies and evaluation of hybrid photography in unsettling animal perspectives as effective ecological discourse, and comprises 35%.

Use of serum and blood samples on filter paper to improve the surveillance of dengue in Pacific Island Countries

Background In Pacific Island Countries (PICs) the epidemiology of dengue is characterized by long-term transmission of a single dengue virus (DENV) serotype. The emergence of a new serotype in one island country often indicates major outbreaks with this serotype will follow in other PICs. Objectives Filter paper (FP) cards on which whole blood or serum from dengue suspected patients had been dried was evaluated as a method for transportation of this material by standard mail delivery throughout the Pacific. Study design Twenty-two FP-dried whole blood samples collected from patients in New Caledonia and Wallis & Futuna Islands, during DENV-1 and DENV-4 transmission, and 76 FP-dried sera collected from patients in Yap State, Majuro (Republic of Marshall Islands), Tonga and Fiji, before and during outbreaks of DENV-2 in Yap State and DENV-4 in Majuro, were tested for the presence of DENV RNA, by serotype specific RT-PCR, at the Institut Louis Malardé in French Polynesia. Results The serotype of DENV could be determined, by a variety of RT-PCR procedures, in the FP-dried samples after more than three weeks of transport at ambient temperatures. In most cases, the sequencing of the envelope gene to genotype the viruses also was possible. Conclusions The serotype and genotype of DENV can be determined from FP-dried serum or whole blood samples transported over thousands of kilometers at ambient, tropical, temperatures. This simple and low-cost approach to virus identification should be evaluated in isolated and resource poor settings for surveillance for a range of significant viral diseases.

Thorough assessment of DNA preservation from fossil bone and sediments excavated from a late Pleistocene–Holocene cave deposit on Kangaroo Island, South Australia

Fossils and sediments preserved in caves are an excellent source of information for investigating impacts of past environmental changes on biodiversity. Until recently studies have relied on morphology-based palaeontological approaches, but recent advances in molecular analytical methods offer excellent potential for extracting a greater array of biological information from these sites. This study presents a thorough assessment of DNA preservation from late Pleistocene–Holocene vertebrate fossils and sediments from Kelly Hill Cave Kangaroo Island, South Australia. Using a combination of extraction techniques and sequencing technologies, ancient DNA was characterised from over 70 bones and 20 sediment samples from 15 stratigraphic layers ranging in age from >20 ka to ∼6.8 ka. A combination of primers targeting marsupial and placental mammals, reptiles and two universal plant primers were used to reveal genetic biodiversity for comparison with the mainland and with the morphological fossil record for Kelly Hill Cave. We demonstrate that Kelly Hill Cave has excellent long-term DNA preservation, back to at least 20 ka. This contrasts with the majority of Australian cave sites thus far explored for ancient DNA preservation, and highlights the great promise Kangaroo Island caves hold for yielding the hitherto-elusive DNA of extinct Australian Pleistocene species.

Retaining the thin blue line : What shapes workers' intentions not to quit the current work environment

Purpose – The purpose of this paper is to investigate the relationship between workplace factors and the intentions of police officers to quit their current department. Design/methodology/approach – Data from a survey of Baltimore officers, designed to examine the relationship between police stress and domestic violence in police families were used. Using multivariate regression analysis, the authors focus on the officers' stated intentions to look for alternative employment, with proxies for social and workplace factors. Findings – Higher levels of cooperation (trust), interactional justice and work-life-balance reduce police officers' intentions to quit. While high levels of physical and psychological strain and trauma are not correlated with intentions to quit. Research limitations/implications – A discernible limitation of this study is the age of the data analyzed and that many changes have occurred in recent times (policing and social). It would be of great interest to repeat this study to gauge the true effect. Practical implications – There are policy implications for retention and recruitment: it may possible to decrease the ethnic and gender gaps, through identifying officers at risk and creating programs to hold existing minorities, recruit more, whilst maintaining a strong, happy and healthy department. Originality/value – This study examines the impact of workplace factors on quitting intention for police officers. It is demonstrated that social capital, fairness and work-life balance are moderators for quitting, adding to the literature on worker retention, as little research has been done using multivariate analysis on quitting intentions.

Regulation of dormancy in barley by blue light and after-ripening : effects on abscisic acid and gibberellin metabolism

White light strongly promotes dormancy in freshly harvested cereal grains, whereas dark and after-ripening have the opposite effect. We have analyzed the interaction of light and after-ripening on abscisic acid (ABA) and gibberellin (GA) metabolism genes and dormancy in barley (Hordeum vulgare ‘Betzes’). Analysis of gene expression in imbibed barley grains shows that different ABA metabolism genes are targeted by white light and after-ripening. Of the genes examined, white light promotes the expression of an ABA biosynthetic gene, HvNCED1, in embryos. Consistent with this result, enzyme-linked immunosorbent assays show that dormant grains imbibed under white light have higher embryo ABA content than grains imbibed in the dark. After-ripening has no effect on expression of ABA biosynthesis genes, but promotes expression of an ABA catabolism gene (HvABA8′OH1), a GA biosynthetic gene (HvGA3ox2), and a GA catabolic gene (HvGA2ox3) following imbibition. Blue light mimics the effects of white light on germination, ABA levels, and expression of GA and ABA metabolism genes. Red and far-red light have no effect on germination, ABA levels, or HvNCED1. RNA interference experiments in transgenic barley plants support a role of HvABA8′OH1 in dormancy release. Reduced HvABA8′OH1 expression in transgenic HvABA8′OH1 RNAi grains results in higher levels of ABA and increased dormancy compared to nontransgenic grains.

The national railway of Sarah Island : Richard Flanagan's Gould's Book of Fish

In the latter half of the nineteenth century the railway became an emblem of technological advancement, stood for the improvement and progression of European life, and became a recognizable symbol for the achievements of governments and citizens. The implementation and use of the railway became closely linked with notions of national identity and character. The railway became an identifiable artefact in official history but at the same time it became a part of everyday life. Richard Flanagan’s Gould’s Book of Fish retells the life-story of a fictionalized convict sent to Sarah Island and who paints fish, eventually he metamorphoses into one. It could be thought that a novel set in convict times would have little to do with notions of national identity, technological advancement, and railway travel. However, Richard Flanagan, in this very complex, almost surreal, novel, has used the construction of a fictional national railway as one of the ways to explore Australia's complex relationship with history and space. The novel tells of the plans of a history-loving Commandant and his desire to build a national railway on Sarah Island. This paper explores how Sarah Island becomes a metonym for Australia as a whole and Flanagan's novel takes on a metaphysical dimension as he reveals the struggles that emerge when official history collides with non-official versions. The fabulations of the novel contribute to an historical reconstruction of the spatial/architectural history of the Tasmanian colonial project.

Pathway to sustainability : the Lady Elliot Island hybrid solar power station

The Lady Elliot Island eco-resort, on the Great Barrier Reef, operates with a strong sustainability ethic, and has broken away from its reliance on diesel generators, an initiative which has ongoing and substantial economic benefit. The first step was an energy audit that led to a 35% reduction in energy usage, to an average of 575 kWh per day. The eco-resort then commissioned a hybrid solar power station, in 2008, with energy storage in battery banks. Solar power is currently (2013) providing about 160 kWh of energy per day, and the eco-resort’s diesel fuel usage has decreased from 550 to 100 litres per day, enabling the power station to pay for itself in 3 years. The eco-resort plans to complete its transition to renewable energy by 2015, by installing additional solar panels, and a 10-15 kW wind turbine. This paper starts by discussing why the eco-resort chose a hybrid solar power station to transition to renewable energy, and the barriers to change. It then describes the power station, upgrades through to 2013, the power control system, the problems that were solved to realise the potential of a facility operating in a harsh and remote environment, and its performance. The paper concludes by outlining other eco-resort sustainability practices, including education and knowledge-sharing initiatives, and monitoring the island’s environmental and ecological condition.

Mapping eQTLs in the Norfolk Island genetic isolate identifies candidate genes for CVD risk traits

Cardiovascular disease (CVD) affects millions of people worldwide and is influenced by numerous factors, including lifestyle and genetics. Expression quantitative trait loci (eQTLs) influence gene expression and are good candidates for CVD risk. Founder-effect pedigrees can provide additional power to map genes associated with disease risk. Therefore, we identified eQTLs in the genetic isolate of Norfolk Island (NI) and tested for associations between these and CVD risk factors. We measured genome-wide transcript levels of blood lymphocytes in 330 individuals and used pedigree-based heritability analysis to identify heritable transcripts. eQTLs were identified by genome-wide association testing of these transcripts. Testing for association between CVD risk factors (i.e., blood lipids, blood pressure, and body fat indices) and eQTLs revealed 1,712 heritable transcripts (p < 0.05) with heritability values ranging from 0.18 to 0.84. From these, we identified 200 cis-acting and 70 trans-acting eQTLs (p < 1.84 × 10(-7)) An eQTL-centric analysis of CVD risk traits revealed multiple associations, including 12 previously associated with CVD-related traits. Trait versus eQTL regression modeling identified four CVD risk candidates (NAAA, PAPSS1, NME1, and PRDX1), all of which have known biological roles in disease. In addition, we implicated several genes previously associated with CVD risk traits, including MTHFR and FN3KRP. We have successfully identified a panel of eQTLs in the NI pedigree and used this to implicate several genes in CVD risk. Future studies are required for further assessing the functional importance of these eQTLs and whether the findings here also relate to outbred populations.

Feeling a little Blue? : Boofheads, bodies, and beaches

Pat Grant’s graphic novel Blue (2012) tells two stories about the impact of a newly migrant group on a small coastal Australian town. The wider story explores the wholesale effects of a previously unknown population joining an existing, culturally homogenous community. These broad social images are used to contextualise the more immediate story of three youths who are disenfranchised within the pre-existing community, but who can claim social enfranchisement by alienating the new members of the community. That the migrant population is depicted literally as aliens emphasises Blue’s participation in a wider conversation about citizenship and empathy. However, Blue does not necessarily seek to provoke a particular emotional response in its readers. Rather, in following three characters who lack what Nussbaum calls “narrative imagination” in their pursuit of good surfing or visceral entertainment—of beaches or bodies—Blue explores the means and consequences of refusing intersubjective affect. This is most powerfully rendered by the main characters’ ultimate avoidance of, and fictions about, a dead body they have wagged school to see. At the very moment of a person becoming a true object—a corpse—the meaning of objectifying people is revealed; the young protagonists seem to recognise this fact, and thus retreat from the affective scene which nonetheless informs Blue as a whole.