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Cognitive-Behavioral Phenotypes of Williams Syndrome Are Associated With Genetic Variation in the GTF2I Gene, In a Healthy Population

Peer reviewed: 
Yes, item is peer reviewed.
Date created: 
2014
Abstract: 

Background

Individuals with Williams syndrome, a neurogenetic condition caused by deletion of a set of genes at chromosomal location 7q11.23, exhibit a remarkable suite of traits including hypersociality with high, nonselective friendliness and low social anxiety, expressive language relatively well-developed but under-developed social-communication skills overall, and reduced visual-spatial abilities. Deletions and duplications of the Williams-syndrome region have also been associated with autism, and with schizophrenia, two disorders centrally involving social cognition. Several lines of evidence have linked the gene GTF2I (General Transcription Factor IIi) with the social phenotypes of Williams syndrome, but a role for this gene in sociality within healthy populations has yet to be investigated.

Results

We genotyped a large set of healthy individuals for two single-nucleotide polymorphisms in the GTF2I gene that have recently been significantly associated with autism, and thus apparently exhibit functional effects on autism-related social phenotypes. GTF2I genotypes for these SNPs showed highly significant association with low social anxiety combined with reduced social-communication abilities, which represents a metric of the Williams-syndrome cognitive profile as described from previous studies.

Conclusions

These findings implicate the GTF2I gene in the neurogenetic basis of social communication and social anxiety, both in Williams syndrome and among individuals in healthy populations.

Document type: 
Article
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Data for Effects of salmon-derived nutrients and habitat characteristics on population densities of stream-resident sculpins

Peer reviewed: 
No, item is not peer reviewed.
Date created: 
2014-11-12
Abstract: 

Data on population densities of stream-resident sculpins.

Document type: 
Dataset

Global Biogeography of Reef Fishes: A Hierarchical Quantitative Delineation of Regions

Peer reviewed: 
Yes, item is peer reviewed.
Date created: 
2013
Abstract: 

Delineating regions is an important first step in understanding the evolution and biogeography of faunas. However, quantitative approaches are often limited at a global scale, particularly in the marine realm. Reef fishes are the most diversified group of marine fishes, and compared to most other phyla, their taxonomy and geographical distributions are relatively well known. Based on 169 checklists spread across all tropical oceans, the present work aims to quantitatively delineate biogeographical entities for reef fishes at a global scale. Four different classifications were used to account for uncertainty related to species identification and the quality of checklists. The four classifications delivered converging results, with biogeographical entities that can be hierarchically delineated into realms, regions and provinces. All classifications indicated that the Indo-Pacific has a weak internal structure, with a high similarity from east to west. In contrast, the Atlantic and the Eastern Tropical Pacific were more strongly structured, which may be related to the higher levels of endemism in these two realms. The “Coral Triangle”, an area of the Indo-Pacific which contains the highest species diversity for reef fishes, was not clearly delineated by its species composition. Our results show a global concordance with recent works based upon endemism, environmental factors, expert knowledge, or their combination. Our quantitative delineation of biogeographical entities, however, tests the robustness of the results and yields easily replicated patterns. The similarity between our results and those from other phyla, such as corals, suggests that our approach may be of broad utility in describing and understanding global marine biodiversity patterns.

Document type: 
Article
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Differential Expression of Apoptosis Related Genes in Selected Strains of Aedes aegypti with Different Susceptibilities to Dengue Virus

Peer reviewed: 
Yes, item is peer reviewed.
Date created: 
2013
Abstract: 

Aedes aegypti is the principal vector of Dengue viruses worldwide. We identified field collected insects with differential susceptibility to Dengue-2 virus (DENv-2) and used isofemale selection to establish susceptible and refractory strains based on midgut infection barriers. Previous experiments had identified higher expression of apoptosis-related genes in the refractory strain. To identify potential molecular mechanisms associated with DENv susceptibility, we evaluated the differential expression of Caspase-16, Aedronc, Aedredd, Inhibitor of apoptosis (AeIAP1) and one member of the RNAi pathway, Argonaute-2 in the midguts and fat body tissues of the selected strains at specific times post blood feeding or infection with DENv-2. In the refractory strain there was significantly increased expression of caspases in midgut and fatbody tissues in the presence of DENv-2, compared to exposure to blood alone, and significantly higher caspase expression in the refractory strain compared with the susceptible strain at timepoints when DENv was establishing in these tissues. We used RNAi to knockdown gene expression; knockdown of AeIAP1 was lethal to the insects. In the refractory strain, knockdown of the pro-apoptotic gene Aedronc increased the susceptibility of refractory insects to DENv-2 from 53% to 78% suggesting a contributing role of this gene in the innate immune response of the refractory strain.

Document type: 
Article
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Native Predators Do Not Influence Invasion Success of Pacific Lionfish on Caribbean Reefs

Peer reviewed: 
Yes, item is peer reviewed.
Date created: 
2013
Abstract: 

Biotic resistance, the process by which new colonists are excluded from a community by predation from and/or competition with resident species, can prevent or limit species invasions. We examined whether biotic resistance by native predators on Caribbean coral reefs has influenced the invasion success of red lionfishes (Pterois volitans and Pterois miles), piscivores from the Indo-Pacific. Specifically, we surveyed the abundance (density and biomass) of lionfish and native predatory fishes that could interact with lionfish (either through predation or competition) on 71 reefs in three biogeographic regions of the Caribbean. We recorded protection status of the reefs, and abiotic variables including depth, habitat type, and wind/wave exposure at each site. We found no relationship between the density or biomass of lionfish and that of native predators. However, lionfish densities were significantly lower on windward sites, potentially because of habitat preferences, and in marine protected areas, most likely because of ongoing removal efforts by reserve managers. Our results suggest that interactions with native predators do not influence the colonization or post-establishment population density of invasive lionfish on Caribbean reefs.

Document type: 
Article
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The Conservation and Management of Tunas and Their Relatives: Setting Life History Research Priorities

Peer reviewed: 
Yes, item is peer reviewed.
Date created: 
2013
Abstract: 

Scombrids (tunas, bonitos, Spanish mackerels and mackerels) support important fisheries in tropical, subtropical and temperate waters around the world, being one of the most economically- and socially-important marine species globally. Their sustainable exploitation, management and conservation depend on accurate life history information for the development of quantitative fisheries stock assessments, and in the fishery data-poor situations for the identification of vulnerable species. Here, we assemble life history traits (maximum size, growth, longevity, maturity, fecundity, spawning duration and spawning interval) for the 51 species of scombrids globally. We identify major biological gaps in knowledge and prioritize life history research needs in scombrids based on their biological gaps in knowledge, the importance of their fisheries and their current conservation status according to the International Union for Conservation of Nature Red List. We find that the growth and reproductive biology of tunas and mackerel species have been more extensively studied than for Spanish mackerels and bonitos, although there are notable exceptions in all groups. We also reveal that reproductive biology of species, particular fecundity, is the least studied biological aspect in scombrids. We identify two priority groups, including 32 species of scombrids, and several populations of principal market tunas, for which life history research should be prioritized following the species-specific life history gaps identified in this study in the coming decades. By highlighting the important gaps in biological knowledge and providing a priority setting for life history research in scombrid species this study provides guidance for management and conservation and serves as a guide for biologists and resource managers interested in the biology, ecology, and management of scombrid species.

Document type: 
Article
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The Long and the Short of It: No Dietary Specialisation between Male and Female Western Sandpipers Despite Strong Bill Size Dimorphism

Peer reviewed: 
Yes, item is peer reviewed.
Date created: 
2013
Abstract: 

Many bird species show spatial or habitat segregation of the sexes during the non-breeding season. One potential ecological explanation is that differences in bill morphology favour foraging niche specialisation and segregation. Western sandpipers Calidris mauri have pronounced bill size dimorphism, with female bills averaging 15% longer than those of males. The sexes differ in foraging behaviour and exhibit partial latitudinal segregation during the non-breeding season, with males predominant in the north and females in the south. Niche specialisation at a local scale might account for this broad geographic pattern, and we investigated whether longer-billed females and shorter-billed males occupy different foraging niches at 16 sites across the non-breeding range. We used stable-nitrogen (δ15N) isotope analysis of whole blood to test for dietary specialisation according to bill length and sex. Stable-nitrogen isotope ratios increase with trophic level. We predicted that δ15N values would increase with bill length and would be higher for females, which use a greater proportion of foraging behaviour that targets higher-trophic level prey. We used stable-carbon (δ13C) isotope analysis to test for habitat segregation according to bill length and sex. Stable-carbon isotope ratios vary between marine- and freshwater-influenced habitats. We predicted that δ13C values would differ between males and females if the sexes segregate between habitat types. Using a model selection approach, we found little support for a relationship between δ15N and either bill length or sex. There was some indication, however, that more marine δ13C values occur with shorter bill lengths. Our findings provide little evidence that male and female western sandpipers exhibit dietary specialisation as a function of their bill size, but indicate that the sexes may segregate in different habitats according to bill length at some non-breeding sites. Potential ecological factors underlying habitat segregation between sexes include differences in preferred habitat type and predation risk.

Document type: 
Article
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Citizen Science Reveals an Extensive Shift in the Winter Distribution of Migratory Western Grebes

Peer reviewed: 
Yes, item is peer reviewed.
Date created: 
2013
Abstract: 

Marine waterbirds have shown variable trends in abundance over the past four decades with some species displaying steep declines along the Pacific coast from British Columbia through California. One of the most dramatic changes has been that of western grebes (Aechmophorus occidentalis) in the Salish Sea. This region was a former core of the species wintering distribution but they have become increasingly rare prompting calls for conservation action. A more thorough understanding of this situation requires the analysis of trends at broader geographic scales as well as a consideration of mechanisms that might have led to a change in abundance. We used hierarchical modeling with a Bayesian framework applied to 36 years of Audubon Christmas Bird Count data to assess continent-wide and regional population trends in western and Clark’s grebes (A. clarkii) from 1975 to 2010. Our results show that the North American wintering population of Aechmophorus grebes decreased by ~52% after 1975, but also that western grebes displayed strongly opposing regional patterns. Abundance decreased by about 95% over 36 years in the Salish Sea but increased by over 300% along coastal California. As a result, the mean centre of the species distribution shifted south by an estimated 895 km between 1980 and 2010. Mechanisms underlying this shift require further study but we hypothesize that it may be related to a change in the abundance and availability of their forage fish prey base. Since the mid-1980s, the Pacific sardine stock off the California coast increased from a few thousand metric tonnes to over two million. At the same time both the abundance and availability of Pacific herring declined in the Salish Sea. Studies are needed to examine this hypothesis further and additional consideration should be directed at other changes in the marine environment that may have contributed to a range shift.

Document type: 
Article
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Moving into Protected Areas? Setting Conservation Priorities for Romanian Reptiles and Amphibians at Risk from Climate Change

Peer reviewed: 
Yes, item is peer reviewed.
Date created: 
2013
Abstract: 

Rapid climate change represents one of the top threats to biodiversity, causing declines and extinctions of many species. Range shifts are a key response, but in many cases are incompatible with the current extent of protected areas. In this study we used ensemble species distribution models to identify range changes for 21 reptile and 16 amphibian species in Romania for the 2020s and 2050s time horizons under three emission scenarios (A1B = integrated world, rapid economic growth, A2A = divided world, rapid economic growth [realistic scenario], B2A = regional development, environmentally-friendly scenario) and no- and limited-dispersal assumptions. We then used irreplaceability analysis to test the efficacy of the Natura 2000 network to meet conservation targets. Under all scenarios and time horizons, 90% of the species suffered range contractions (greatest loses under scenarios B2A for 2020s, and A1B for 2050s), and four reptile species expanded their ranges. Two reptile and two amphibian species are predicted to completely lose climate space by 2050s. Currently, 35 species do not meet conservation targets (>40% representation in protected areas), but the target is predicted to be met for 4 - 14 species under future climate conditions, with higher representation under the limited-dispersal scenario. The Alpine and Steppic-Black Sea biogeographic regions have the highest irreplaceability value, and act as climate refugia for many reptiles and amphibians. The Natura 2000 network performs better for achieving herpetofauna conservation goals in the future, owing to the interaction between drastic range contractions, and range shifts towards existing protected areas. Thus, conservation actions for herpetofauna in Romania need to focus on: (1) building institutional capacity of protected areas in the Alpine and Steppic-Black Sea biogeographic regions, and (2) facilitating natural range shifts by improving the conservation status of herpetofauna outside protected areas, specifically in traditionally-managed landscapes and abandoned cropland.

Document type: 
Article
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Identification of 526 Conserved Metazoan Genetic Innovations Exposes a New Role for Cofactor E-like in Neuronal Microtubule Homeostasis

Peer reviewed: 
Yes, item is peer reviewed.
Date created: 
2013
Abstract: 

The evolution of metazoans from their choanoflagellate-like unicellular ancestor coincided with the acquisition of novel biological functions to support a multicellular lifestyle, and eventually, the unique cellular and physiological demands of differentiated cell types such as those forming the nervous, muscle and immune systems. In an effort to understand the molecular underpinnings of such metazoan innovations, we carried out a comparative genomics analysis for genes found exclusively in, and widely conserved across, metazoans. Using this approach, we identified a set of 526 core metazoan-specific genes (the ‘metazoanome’), approximately 10% of which are largely uncharacterized, 16% of which are associated with known human disease, and 66% of which are conserved in Trichoplax adhaerens, a basal metazoan lacking neurons and other specialized cell types. Global analyses of previously-characterized core metazoan genes suggest a prevalent property, namely that they act as partially redundant modifiers of ancient eukaryotic pathways. Our data also highlights the importance of exaptation of pre-existing genetic tools during metazoan evolution. Expression studies in C. elegans revealed that many metazoan-specific genes, including tubulin folding cofactor E-like (TBCEL/coel-1), are expressed in neurons. We used C. elegans COEL-1 as a representative to experimentally validate the metazoan-specific character of our dataset. We show that coel-1 disruption results in developmental hypersensitivity to the microtubule drug paclitaxel/taxol, and that overexpression of coel-1 has broad effects during embryonic development and perturbs specialized microtubules in the touch receptor neurons (TRNs). In addition, coel-1 influences the migration, neurite outgrowth and mechanosensory function of the TRNs, and functionally interacts with components of the tubulin acetylation/deacetylation pathway. Together, our findings unveil a conserved molecular toolbox fundamental to metazoan biology that contains a number of neuronally expressed and disease-related genes, and reveal a key role for TBCEL/coel-1 in regulating microtubule function during metazoan development and neuronal differentiation.

Document type: 
Article
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