53 research outputs found

    Transposable element-mediated rearrangements are prevalent in human genomes.

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    Transposable elements constitute about half of human genomes, and their role in generating human variation through retrotransposition is broadly studied and appreciated. Structural variants mediated by transposons, which we call transposable element-mediated rearrangements (TEMRs), are less well studied, and the mechanisms leading to their formation as well as their broader impact on human diversity are poorly understood. Here, we identify 493 unique TEMRs across the genomes of three individuals. While homology directed repair is the dominant driver of TEMRs, our sequence-resolved TEMR resource allows us to identify complex inversion breakpoints, triplications or other high copy number polymorphisms, and additional complexities. TEMRs are enriched in genic loci and can create potentially important risk alleles such as a deletion in TRIM65, a known cancer biomarker and therapeutic target. These findings expand our understanding of this important class of structural variation, the mechanisms responsible for their formation, and establish them as an important driver of human diversity

    Trends in Gender Authorship and Collaborations: A 30-Year Comparative Bibliometric Analysis of Manuscripts from The Journal of Bone and Joint Surgery and The Bone and Joint Journal

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    Publishing original peer-reviewed research is essential for advancement through all career stages. Fewer women than men hold senior-level positions in academic medicine and, therefore, examining publication trends relative to gender is important. The goal of this study was to examine and compare publication trends in The Journal of Bone and Joint Surgery (JBJS) and The Bone and Joint Journal (BJJ) with a particular emphasis on trends regarding author gender. Data was collected and analyzed for manuscripts published in JBJS and BJJ over the past 30 years. For manuscripts published in 1986, 1996, 2006, and 2016, we recorded the numbers of authors, manuscript pages, references, collaborating institutions, the position in the byline of the corresponding author, the country of the corresponding author, and the names of the first and corresponding author. We also calculated the normalized number of citations and corresponding author position. The number of authors, institutions, and countries collaborating on manuscripts published in both JBJS and BJJ increased over time. JBJS published more manuscripts from North America and BJJ published more manuscripts from Europe. In both journals, the percentage of women as first and/or corresponding author increased over time. Trends over the past 30 years have shown increased collaborations with greater citations in manuscripts published in JBJS and BJJ. In the same time period, both journals demonstrated a rise in the percentage of manuscripts with women first and/or corresponding authors, suggesting a decrease in the gender gap

    Biophysical Factors Affecting the Distribution of Demersal Fish around the Head of a Submarine Canyon Off the Bonney Coast, South Australia

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    We sampled the demersal fish community of the Bonney Canyon, South Australia at depths (100–1,500 m) and locations that are poorly known. Seventy-eight species of demersal fish were obtained from 12 depth-stratified trawls along, and to either side, of the central canyon axis. Distributional patterns in species richness and biomass were highly correlated. Three fish assemblage groupings, characterised by small suites of species with narrow depth distributions, were identified on the shelf, upper slope and mid slope. The assemblage groupings were largely explained by depth (ρw = 0.78). Compared to the depth gradient, canyon-related effects are weak or occur at spatial or temporal scales not sampled in this study. A conceptual physical model displayed features consistent with the depth zonational patterns in fish, and also indicated that canyon upwelling can occur. The depth zonation of the fish assemblage was associated with the depth distribution of water masses in the area. Notably, the mid-slope community (1,000 m) coincided with a layer of Antarctic Intermediate Water, the upper slope community (500 m) resided within the core of the Flinders Current, and the shelf community was located in a well-mixed layer of surface water (<450 m depth)

    Genetic Diversity and Population Structure of the Eurasian Whiskered Tern (Chlidonias hybrida hybrida), a Species Exhibiting Range Expansion

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    International audienceContrasting the general trend of declining Afro-Palearctic migratory: bird populations, the Whiskered Tern (Chlidonias hybrida hybrida) has recently exhibited spectacular demographic expansion and range shifts across its patchy European breeding distribution. To explore population connectivity of this species, individuals sampled from four sites in France, Poland, and Ukraine (n = 78) were genotyped at six microsatellite DNA loci and one partial mitochondrial cytochrome-b gene. Genetic variation was generally high (H-E = 0.47-0.67; pi = 1.29-2.26). Contrasting the historical absence of significant genetic structure (Phi(ST) = 0.061-0.027), the microsatellite data indicated strong differentiation between France and the Eastern European sites (F-ST = 0.067-0.098). This, coupled with evidence of two distinct genetic clusters (K = 2; Delta K = 2) corresponding to little subdivision between Poland and Ukraine, has confirmed the presence of two European Whiskered Tern subpopulations (western and eastern) characterized by stark differences in wintering distribution and seasonal migratory routes

    The Role of Body Size in Complex Food Webs: A Cold Case

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    Human-induced habitat destruction, overexploitation, introduction of alien species and climate change are causing species to go extinct at unprecedented rates, from local to global scales. There are growing concerns that these kinds of disturbances alter important functions of ecosystems. Our current understanding is that key parameters of a community (e.g. its functional diversity, species composition, and presence/absence of vulnerable species) reflect an ecological network’s ability to resist or rebound from change in response to pressures and disturbances, such as species loss. If the food web structure is relatively simple, we can analyse the roles of different species interactions in determining how environmental impacts translate into species loss. However, when ecosystems harbour species-rich communities, as is the case in most natural systems, then the complex network of ecological interactions makes it a far more challenging task to perceive how species’ functional roles influence the consequences of species loss. One approach to deal with such complexity is to focus on the functional traits of species in order to identify their respective roles: for instance, large species seem to be more susceptible to extinction than smaller species. Here, we introduce and analyse the marine food web from the high Antarctic Weddell Sea Shelf to illustrate the role of species traits in relation to network robustness of this complex food web. Our approach was threefold: firstly, we applied a new classification system to all species, grouping them by traits other than body size; secondly, we tested the relationship between body size and food web parameters within and across these groups and finally, we calculated food web robustness. We addressed questions regarding (i) patterns of species functional/trophic roles, (ii) relationships between species functional roles and body size and (iii) the role of species body size in terms of network robustness. Our results show that when analyzing relationships between trophic structure, body size and network structure, the diversity of predatory species types needs to be considered in future studies

    A longitudinal study of vaccine hesitancy attitudes and social influence as predictors of COVID-19 vaccine uptake in the US

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    Background In many countries with high levels of COVID-19 vaccine access, uptake remains a major issue. We examined prospective predictors of COVID-19 vaccine uptake in a United States longitudinal study. Methods An online longitudinal study on COVID-19 and well-being assessed vaccine hesitancy attitudes, social norms, and uptake among 444 respondents who had completed both survey waves in March and June 2021. Results The mean sample age was 41, with 55% female, 71% white, 13% Black, and 6% Latinx. In March 2021, 14% had received at least one COVID-19 vaccine dose. By June 2021, 64% reported receiving at least one dose. In prospectively assessing predictors of vaccine uptake, we found strong correlations among five different vaccine hesitancy questions. In multivariable logistic regression models, family and friends discouraging vaccination (adjusted odds ratios [aOR] = .26, 95% CI = .07, .98), not knowing whom to believe about vaccine safety (aOR = .51, 95% CI = .27, .95), and concerns that shortcuts were taken with vaccine development (aOR = .43, 95% CI = .23, .81) were all independent predictors of lower vaccine uptake. Political conservatism, gender, education, and income were also independent predictors of reduced uptake. Vaccine hesitancy items were also modeled as a scale, and the scale was found to be strongly predictive of vaccine uptake. Conclusions The findings highlight the importance of social norm interventions and suggest general and specific vaccine hesitancy attitudes, especially trust, should be considered in developing vaccine uptake programs

    Behavioral and Attitudinal Correlates of Trusted Sources of COVID-19 Vaccine Information in the US

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    There is a critical need for the public to have trusted sources of vaccine information. A longitudinal online study assessed trust in COVID-19 vaccine information from 10 sources. A factor analysis for data reduction revealed two factors. The first factor contained politically conservative sources (PCS) of information. The second factor included eight news sources representing mainstream sources (MS). Multivariable logistic regression models were used. Trust in Dr. Fauci was also examined. High trust in MS was associated with intention to encourage family members to get COVID-19 vaccines, altruistic beliefs that more vulnerable people should have vaccine priority, and belief that racial minorities with higher rates of COVID-19 deaths should have priority. High trust in PCS was associated with intention to discourage friends from getting vaccinated. Higher trust in PCS was also associated with participants more likely to disagree that minorities with higher rates of COVID-19 deaths should have priority for a vaccine. High trust in Dr. Fauci as a source of COVID-19 vaccine information was associated with factors similar to high trust in MS. Fair, equitable, and transparent access and distribution are essential to ensure trust in public health systems’ abilities to serve the population
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