Molecular genetic investigation of mitochondrial dysfunction in relation to migraine susceptibility

The aim of this research was to assess the role of genetic variation in mitochondrial function and how this relates to migraine pathophysiology. Using our unique Norfolk Island population, a custom in-house next generation sequencing methodology was developed. This data for the first time showed that there is a molecular genetic link between mitochondrial dysfunction and migraine susceptibility. This work has provided the foundation for further studies aimed at utilising the identified markers in improved migraine diagnostic and therapeutic strategies.

Integration over song classification replicates: song variant analysis in the hihi

Human expert analyses are commonly used in bioacoustic studies and can potentially limit the reproducibility of these results. In this paper, a machine learning method is presented to statistically classify avian vocalizations. Automated approaches were applied to isolate bird songs from long field recordings, assess song similarities, and classify songs into distinct variants. Because no positive controls were available to assess the true classification of variants, multiple replicates of automatic classification of song variants were analyzed to investigate clustering uncertainty. The automatic classifications were more similar to the expert classifications than expected by chance. Application of these methods demonstrated the presence of discrete song variants in an island population of the New Zealand hihi (Notiomystis cincta). The geographic patterns of song variation were then revealed by integrating over classification replicates. Because this automated approach considers variation in song variant classification, it reduces potential human bias and facilitates the reproducibility of the results.

Identification of genetic variants contributing to the migraine phenotype in different Australian populations

This project aimed to identify novel genetic risk variants associated with migraine in the Norfolk Island population. Statistical analysis and bioinformatics approaches such as polygenic modeling and gene clustering methods were carried out to explore genotypic and expression data from high-throughput techniques. This project had a particular focus on hormonal genes and other genetic variants and identified a modest effect size on the migraine phenotype.

Case-control study of ADARB1 and ADARB2 gene variants in migraine

Background: Migraine causes crippling attacks of severe head pain along with associated nausea, vomiting, photophobia and/or phonophobia. The aim of this study was to investigate single nucleotide polymorphisms (SNPs) in the adenosine deaminase, RNA-specific, B1 (ADARB1)and adenosine deaminase, RNA specific, B2 (ADARB2) genes in an Australian case-control Caucasian population for association with migraine. Both candidate genes are highly expressed in the central nervous system (CNS) and fit criteria for migraine neuropathology. SNPs in the ADARB2 gene were previously found to be positively associated with migraine in a pedigree-based GWAS using the genetic isolate of Norfolk Island, Australia. The ADARB1 gene was also chosen for investigation due to its important function in editing neurotransmitter receptor transcripts. Methods: Four SNPs in ADARB1 and nine in ADARB2 were selected by inspecting blocks of LD in Haploview for genotyping using either TaqMan or Sequenom assays. These SNPs were genotyped in two-hundred and ninety one patients who satisfied the International Classification of Headache Disorders, ICHD-II 2004 diagnostic criteria for migraine and three-hundred and fourteen controls and PLINK was used for association testing. Results: Chi-square (χ2) analysis found no significant association between any of the SNPs tested in the ADARB1 and ADARB2 genes in this study and the occurrence of migraine. Conclusions: In contrast to findings that SNPs in the ADARB2 gene were positively associated with migraine in the Norfolk Island population, we find no evidence to support the involvement of RNA editing genes in migraine susceptibility in an Australian Caucasian population.

Are green turtles globally endangered?

Aim  To examine the exploitation, recovery and current status of green turtles (Chelonia mydas) nesting at Ascension Island. Location  Ascension Island (UK) (7°57′ S, 14°22′ W), South Atlantic Ocean. Methods  We analysed records of the harvest of green turtles nesting at Ascension Island between 1822 and 1935, illustrating the decline in numbers over this period. Using a deterministic age-class structured model we predict the initial number of breeding females present in the population prior to the recorded harvest and compare this to our estimate of the current population based upon our recent annual surveys (1999–2004). Results  Prior to 1822 we estimate the nesting population of green turtles to have been at least 19,000–22,000 individuals in order for the population to have survived the level of harvest recorded. From recent data (1999–2004), we estimate the current breeding population of green turtles at this site to be 11,000–15,000 females. Our results illustrate a dramatic recovery of the population, which is still increasing exponentially and shows no evidence of slowing, suggesting it has not reached 50% of its carrying capacity. Main conclusions  We estimate that, since the 1970s, the Ascension Island population of green turtles has increased by 285% and question the recent listing of this species as endangered by the IUCN (World Conservation Union), in particular in the Atlantic Ocean, where 75% of the populations assessed by the IUCN are increasing. Indeed, we estimate the global population of this species to be in excess of 2.2 million individuals. We suggest that the IUCN's global listing process detracts attention from those populations that are truly threatened with extinction and should not, in its present form, be applied to globally distributed long-lived species such as marine turtles.

Demographic status of Komodo dragons populations in Komodo National Park

The Komodo dragon (Varanus komodoensis) is the world's largest lizard and endemic to five islands in Eastern Indonesia. The current management of this species is limited by a paucity of demographic information needed to determine key threats to population persistence. Here we conducted a large scale trapping study to estimate demographic parameters including population growth rates, survival and abundance for four Komodo dragon island populations in Komodo National Park. A combined capture mark recapture framework was used to estimate demographic parameters from 925 marked individuals monitored between 2003 and 2012. Island specific estimates of population growth, survival and abundance, were estimated using open population capture-recapture analyses. Large island populations are characterised by near or stable population growth (i.e. λ~. 1), whilst one small island population (Gili Motang) appeared to be in decline (λ= 0.68 ± 0.09). Population differences were evident in apparent survival, with estimates being higher for populations on the two large islands compared to the two small islands. We extrapolated island specific population abundance estimates (considerate of species habitat use) to produce a total population abundance estimate of 2448 (95% CI: 2067-2922) Komodo dragons in Komodo National Park. Our results suggest that park managers must consider island specific population dynamics for managing and recovering current populations. Moreover understanding what demographic, environmental or genetic processes act independently, or in combination, to cause variation in current population dynamics is the next key step necessary to better conserve this iconic species.

Estrutura genética de Chromis multilineata (Guichenot, 1853) (Perciformes Pomacentridae) na costa NE do Brasil e ilhas oceânicas: evidências de um passado evolutivo instável.

The fauna of Brazilian reef fishes comprises approximately 320 species distributed along the coast of the mainland and islands ocean. Little is known about the levels of connectivity between their populations, but has been given the interest in the relations between the offshore and the islands of the Brazil, in a biogeographical perspective. The oceanic islands Brazilian hosting a considerable number of endemic species, which are locally abundant, and divide a substantial portion of its reef fish fauna with the Western Atlantic. Among the richest families of reef fish in species are Pomacentridae. This study analyzed through analysis of sequences of the mitochondrial DNA control region (D-loop), the standards-breeding population of C. Multilineata in different areas of the NE coast of Brazil, involving both oceanic islands (Fernando de Noronha Archipelago and of St. Peter and St. Paul) and continental shelf (RN and BA). To this aim, partial sequences were used in the region HVR1 of mtDNA (312pb). The population structure and parameters for the estimates of genetic variability, molecular variance (AMOVA), estimation of the index for fixing (FST) and number of migrants were determined. The phylogenetic relationships between the populations were estimated using neighbor-joining (NJ) method. A group of Bayesian analysis was used to verify population structure, according to haplotype frequency of each individual. The genetic variability of populations was extremely high. The populations sampled show moderate genetic structure, with a higher degree of genetic divergence being observed for the sample of the Archipelago of St. Peter and St. Paul. At smaller geographical scale, the sample of Rio Grande do Norte and the Archipelago of Fernando de Noronha do not have genetic differentiation. Three moderately differentiated population groups were identified: a population group (I), formed by the Rio Grande do Norte (I') and the archipelago of Fernando de Noronha (I''), and two other different groups formed by the island population of the archipelago of Saint Peter and St. Paul (II) and Bahia (III). The genetic patterns found suggest that the species has suffered a relatively recent radiation favoring the absence of shared haplotypes. C. multilineata seems to constitute a relatively homogenous population along the West Atlantic coast, with evidence of a moderate population genetic structure in relation to the Archipelago of St. Peter and St. Paul. These data supports the importance of the dispersal larvae by marine current and the interpopulation similarity this species.

Evolutionary history of Scinax treefrogs on land-bridge islands in south-eastern Brazil

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Diagnóstico coproparasitológico e avaliação dos fatores de risco para infecção parasitária intestinal em uma comunidade ribeirinha do município de Belém-Pará, Brasil

As parasitoses intestinais estão entre as doenças mais freqüentes que acometem o homem, principalmente nos países mais pobres, onde as condições higiênico-sanitárias são muito precárias. Este estudo tem como objetivo determinar a prevalência e identificar os fatores de risco para enteroparasitoses, na comunidade ribeirinha da Ilha de Jutuba, localizada no município de Belém-Pa. Foram examinadas 109 amostras de fezes pelos métodos direto e de sedimentação espontânea em água potável. A prevalência de enteroparasitose encontrada foi de 77,98% (85/109). O protozoário mais prevalente foi a Entamoeba histolytica (49,41%) e entre os helmintos destacaram-se os ancilostomideos (40,0%), Ascaris lumbricoides (29,41%) e Trichuris trichiura (24,71%). Não foram encontradas diferenças, estatisticamente, significativas entre parasitismo e sexo. A correlação entre o parasitismo por Giárdia lamblia e idade apresentou significância estatística (p<0,05) na faixa etária infantil. Entre os fatores de risco para doença parasitária na Ilha consideramos o baixo nível sócio-econômico, a falta de saneamento básico, o consumo de água direto do rio e o consumo de açaí in natura. A correlação entre o consumo de água não tratada e parasitose intestinal não mostrou significância estatística. A razão de chances (Oddes Ratio) calculada mostrou que os indivíduos que consomem açaí têm quatro vezes mais chances de adquirir parasitose intestinal do que os que não consomem. Conclui-se que para redução significativa na morbidade das doenças parasitárias na Ilha de Jutuba é fundamental a ação do poder público e levar à comunidade noções básicas de higiene e de educação sanitária, pois os fatores pertinentes no sentido de reduzir a prevalência de parasitoses intestinais envolvem, além de medidas de saneamento básico, o conhecimento da comunidade sobre o assunto.

Zoneamento do escoamento superficial da bacia hidrográfica do Rio Paciência, Ilha do Maranhão-MA

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Why is asthma mortality higher in Puerto Ricans?

Asthma is a significant public health issue and the most common chronic disease in children. The disease burden of asthma is rising around the world and especially in certain populations. In the United States Puerto Rican Americans have the highest rates of mortality due to asthma, while Mexico Americans have the lowest asthma mortality in the U.S. The reasons for this have been the cause of much speculation in the past; however, no clear cause for these differences has been recognized. The present work reviews the literature bearing on this question to show that there are good reasons to believe that individuals with unusually responsive innate immune responses may be predisposed to the development of asthma. Also reviewed is the molecular basis for this connection. The evidence shows that the history and anthropology of the Puerto Rican people is quite different from that of any other surviving North American or Caribbean population, as it was a relatively isolated island population for 400 years with an environment that tended to eliminate individuals with weak innate immune systems. The Puerto Rican population successfully survived the Columbian exchange of microbes but may be poorly adapted to the modern pro-inflammatory diet coupled with exposure to cigarette smoke as well as cockroach and house dust mite feces.^

Plant regeneration from an endangered valuable cork oak tree by somatic embryogenesis.

Among the several applications of in vitro tissue culture techniques, the conservation of plant germplasm is one of the most widely used. The cork oak is one of the principal tree species in the Western Mediterranean región. Within this área, the Balearic Islands are considered to be a glacial refuge, and therefore a reservoir of genetic resources. A singular tree has been found in the small Minorca Island population. The haplotype of this tree is of Tyrrhenian origin, showing a past link between Minorca and Sardinia. Moreover, this tree do not bear a deletion within an ITS from ribosimic nuclear DNA, which is fairly common in many populations of this species, and indicates that ir may be the descendant of a very ancient population. This tree is currently in a precarious condition, and it has not produced acorns in the last years. Hence there is a clear need of vegetative propagation to conserve this genotype. We have previously developed methods to clone adult cork oak tres by somatic embryogenesis, and therefore the aim of the present work was to clone this singular tree. There braches from the corwn were collected in November 2004, and methods previously described were carried out. By February 2005 somatic embryogenesis was obtained from leaves of the tree with percentages on induction ranging from 17 to 54% depending on the branch, which may show a novel source of variation that requires further study. Spontaneously matured somatic embryos germinated at 46% in average, and the first somatic seedlings from the Alfavaret's cork oak tree were obtained. Therefore, this study shows one of the most relevant applications of somatic embryogenesis: the plant regeneration of valuable genotypes for the in situ and ex situ conservation of forest genetic resources.

Traditional Korean islanders encounters with the British navy in the 1880s: The Port Hamilton Affair of 1885-1887

This article deals with the encounters between a traditional Korean rural and island population and western military forces when the British navy occupied Geomundo, an archipelago known to them as Port Hamilton, for 22 months between 1885 and 1887. The paper first outlines the sometimes painful process of East Asian countries being opened up to trade and outside influences in the 19th century, a process sometimes urged upon them by naval weapons in this era of gunboat diplomacy. This provides the setting for the Port Hamilton Affair itself when in preparation for possible war with Russia, a British naval squadron steamed into Port Hamilton and took it without reference to the local people or their national government. After brief reference to the political consequences of this action, the focus is then on what the records from the occupation and earlier investigations by the British, who had long coveted the islands’ strategic harbour, reveal about the life of the islanders. The article considers both their traditional life, from a time rather before western travel accounts were written about the Korean mainland, and how the islanders fared under the British.

Distribution of conjunctival ultraviolet autoflourescence in a population-based study : the Norfolk Island Eye Study

OBJECTIVE: The objective of this study was to describe the distribution of conjunctival ultraviolet autofluorescence (UVAF) in an adult population. METHODS: We conducted a cross-sectional, population-based study in the genetic isolate of Norfolk Island, South Pacific Ocean. In all, 641 people, aged 15 to 89 years, were recruited. UVAF and standard (control) photographs were taken of the nasal and temporal interpalpebral regions bilaterally. Differences between the groups for non-normally distributed continuous variables were assessed using the Wilcoxon-Mann-Whitney ranksum test. Trends across categories were assessed using Cuzick's non-parametric test for trend or Kendall's rank correlation τ. RESULTS: Conjunctival UVAF is a non-parametric trait with a positively skewed distribution. Median amount of conjunctival UVAF per person (sum of four measurements; right nasal/temporal and left nasal/temporal) was 28.2 mm(2) (interquartile range 14.5-48.2). There was an inverse, linear relationship between UVAF and advancing age (P<0.001). Males had a higher sum of UVAF compared with females (34.4 mm(2) vs 23.2 mm(2), P<0.0001). There were no statistically significant differences in area of UVAF between right and left eyes or between nasal and temporal regions. CONCLUSION: We have provided the first quantifiable estimates of conjunctival UVAF in an adult population. Further data are required to provide information about the natural history of UVAF and to characterise other potential disease associations with UVAF. UVR protective strategies should be emphasised at an early age to prevent the long-term adverse effects on health associated with excess UVR.

Dividing population genetic distance data with the software Partitioning Optimization with Restricted Growth Strings (PORGS): an application for Chinook salmon (Oncorhynchus tshawytscha), Vancouver Island, British Columbia

A new method of finding the optimal group membership and number of groupings to partition population genetic distance data is presented. The software program Partitioning Optimization with Restricted Growth Strings (PORGS), visits all possible set partitions and deems acceptable partitions to be those that reduce mean intracluster distance. The optimal number of groups is determined with the gap statistic which compares PORGS results with a reference distribution. The PORGS method was validated by a simulated data set with a known distribution. For efficiency, where values of n were larger, restricted growth strings (RGS) were used to bipartition populations during a nested search (bi-PORGS). Bi-PORGS was applied to a set of genetic data from 18 Chinook salmon (Oncorhynchus tshawytscha) populations from the west coast of Vancouver Island. The optimal grouping of these populations corresponded to four geographic locations: 1) Quatsino Sound, 2) Nootka Sound, 3) Clayoquot +Barkley sounds, and 4) southwest Vancouver Island. However, assignment of populations to groups did not strictly reflect the geographical divisions; fish of Barkley Sound origin that had strayed into the Gold River and close genetic similarity between transferred and donor populations meant groupings crossed geographic boundaries. Overall, stock structure determined by this partitioning method was similar to that determined by the unweighted pair-group method with arithmetic averages (UPGMA), an agglomerative clustering algorithm.