The genome sequence of the ringlet, Aphantopus hyperantus Linnaeus 1758

We present a genome assembly based on an individual female Aphantopus hyperantus , also known as Maniola hyperantus (the ringlet butterfly; Arthropoda; Insecta; Lepidoptera, Nymphalidae), scaffolded using data from a second, unrelated specimen. The genome sequence is 411 megabases in span. The majority of the assembly is scaffolded into 29 chromosomal pseudomolecules, including the Z sex chromosome

Global burden of 369 diseases and injuries in 204 countries and territories, 1990–2019: a systematic analysis for the Global Burden of Disease Study 2019

Background: In an era of shifting global agendas and expanded emphasis on non-communicable diseases and injuries along with communicable diseases, sound evidence on trends by cause at the national level is essential. The Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) provides a systematic scientific assessment of published, publicly available, and contributed data on incidence, prevalence, and mortality for a mutually exclusive and collectively exhaustive list of diseases and injuries. Methods: GBD estimates incidence, prevalence, mortality, years of life lost (YLLs), years lived with disability (YLDs), and disability-adjusted life-years (DALYs) due to 369 diseases and injuries, for two sexes, and for 204 countries and territories. Input data were extracted from censuses, household surveys, civil registration and vital statistics, disease registries, health service use, air pollution monitors, satellite imaging, disease notifications, and other sources. Cause-specific death rates and cause fractions were calculated using the Cause of Death Ensemble model and spatiotemporal Gaussian process regression. Cause-specific deaths were adjusted to match the total all-cause deaths calculated as part of the GBD population, fertility, and mortality estimates. Deaths were multiplied by standard life expectancy at each age to calculate YLLs. A Bayesian meta-regression modelling tool, DisMod-MR 2.1, was used to ensure consistency between incidence, prevalence, remission, excess mortality, and cause-specific mortality for most causes. Prevalence estimates were multiplied by disability weights for mutually exclusive sequelae of diseases and injuries to calculate YLDs. We considered results in the context of the Socio-demographic Index (SDI), a composite indicator of income per capita, years of schooling, and fertility rate in females younger than 25 years. Uncertainty intervals (UIs) were generated for every metric using the 25th and 975th ordered 1000 draw values of the posterior distribution. Findings: Global health has steadily improved over the past 30 years as measured by age-standardised DALY rates. After taking into account population growth and ageing, the absolute number of DALYs has remained stable. Since 2010, the pace of decline in global age-standardised DALY rates has accelerated in age groups younger than 50 years compared with the 1990–2010 time period, with the greatest annualised rate of decline occurring in the 0–9-year age group. Six infectious diseases were among the top ten causes of DALYs in children younger than 10 years in 2019: lower respiratory infections (ranked second), diarrhoeal diseases (third), malaria (fifth), meningitis (sixth), whooping cough (ninth), and sexually transmitted infections (which, in this age group, is fully accounted for by congenital syphilis; ranked tenth). In adolescents aged 10–24 years, three injury causes were among the top causes of DALYs: road injuries (ranked first), self-harm (third), and interpersonal violence (fifth). Five of the causes that were in the top ten for ages 10–24 years were also in the top ten in the 25–49-year age group: road injuries (ranked first), HIV/AIDS (second), low back pain (fourth), headache disorders (fifth), and depressive disorders (sixth). In 2019, ischaemic heart disease and stroke were the top-ranked causes of DALYs in both the 50–74-year and 75-years-and-older age groups. Since 1990, there has been a marked shift towards a greater proportion of burden due to YLDs from non-communicable diseases and injuries. In 2019, there were 11 countries where non-communicable disease and injury YLDs constituted more than half of all disease burden. Decreases in age-standardised DALY rates have accelerated over the past decade in countries at the lower end of the SDI range, while improvements have started to stagnate or even reverse in countries with higher SDI. Interpretation: As disability becomes an increasingly large component of disease burden and a larger component of health expenditure, greater research and developm nt investment is needed to identify new, more effective intervention strategies. With a rapidly ageing global population, the demands on health services to deal with disabling outcomes, which increase with age, will require policy makers to anticipate these changes. The mix of universal and more geographically specific influences on health reinforces the need for regular reporting on population health in detail and by underlying cause to help decision makers to identify success stories of disease control to emulate, as well as opportunities to improve. Funding: Bill & Melinda Gates Foundation. © 2020 The Author(s). Published by Elsevier Ltd. This is an Open Access article under the CC BY 4.0 licens

The contribution of X-linked coding variation to severe developmental disorders

Abstract: Over 130 X-linked genes have been robustly associated with developmental disorders, and X-linked causes have been hypothesised to underlie the higher developmental disorder rates in males. Here, we evaluate the burden of X-linked coding variation in 11,044 developmental disorder patients, and find a similar rate of X-linked causes in males and females (6.0% and 6.9%, respectively), indicating that such variants do not account for the 1.4-fold male bias. We develop an improved strategy to detect X-linked developmental disorders and identify 23 significant genes, all of which were previously known, consistent with our inference that the vast majority of the X-linked burden is in known developmental disorder-associated genes. Importantly, we estimate that, in male probands, only 13% of inherited rare missense variants in known developmental disorder-associated genes are likely to be pathogenic. Our results demonstrate that statistical analysis of large datasets can refine our understanding of modes of inheritance for individual X-linked disorders

Why do students choose to study engineering?: Insights from a large-scale institutional survey

CONTEXTImproving capability in the science, technology, engineering and mathematics (STEM) disciplines is fundamental to the Australian government’s agenda for promoting productivity and innovation (Australian Government, 2017). Increasing participation in university engineering degrees is a key mechanism for achieving this. However, encouraging students to pursue engineering pathways is an ongoing challenge with falling rates of students completing advanced STEM subjects in high school (Barrington & Evans, 2016) and the persistent underrepresentation of minority groups (Australian Government, 2017). Australia’s capacity to develop more engineers, and thus address projected skill shortages, requires action across the pipeline. Improved understanding of why students choose to study engineering is valuable in guiding strategies for increasing participation.PURPOSEThis study investigates factors influencing student decisions to study engineering compared to students studying in other areas. The research question is: “What factors influence student decisions to choose to study engineering and when do they make them, as compared to other disciplines?”APPROACHBuilding upon a previous study (Dawes et al., 2015), the first-year domestic cohorts enrolled in STEM degrees as well as selected non-STEM degrees at the Queensland University of Technology were surveyed about their study decisions. In 2022, 19.6% (n=967) of the eligible population responded to the survey. Participants were grouped into (1) engineering, (2) science, technology, or mathematics (STM), and (3) non-STEM related disciplines. Statistical analysis was applied to investigate the relationship between discipline group and specific categorical variables relating to gender, perceived mathematics ability, influencers on degree decision making, and timing of decision to study chosen degree.OUTCOMESEngineering students were less likely to be female and have greater perceived mathematics ability compared to both STM and non-STEM students. No statistically significant differences were recorded for the influencers on decision making across the disciplines, but engineering students selected their degree earlier than STM and non-STEM students.CONCLUSIONSThe differences in degree decision making between engineering and STM students highlights the need for specific strategies to attract students to engineering, rather than promoting STEM as an aggregated field. Separating engineering aspiration from other STEM disciplines is recommended for understanding which factors impact degree selection

Zygosity-based sex determination in a butterfly drives hypervariability of <i>Masculinizer</i>.

Nature has devised many ways of producing males and females. Here, we report on a previously undescribed mechanism for Lepidoptera that functions without a female-specific gene. The number of alleles or allele heterozygosity in a single Z-linked gene (BaMasc) is the primary sex-determining switch in Bicyclus anynana butterflies. Embryos carrying a single BaMasc allele develop into WZ (or Z0) females, those carrying two distinct alleles develop into ZZ males, while (ZZ) homozygotes initiate female development, have mismatched dosage compensation, and die as embryos. Consequently, selection against homozygotes has favored the evolution of spectacular allelic diversity: 205 different coding sequences of BaMasc were detected in a sample of 246 females. The structural similarity of a hypervariable region (HVR) in BaMasc to the HVR in Apis mellifera csd suggests molecular convergence between deeply diverged insect lineages. Our discovery of this primary switch highlights the fascinating diversity of sex-determining mechanisms and underlying evolutionary drivers

The genome sequence of the ringlet, Aphantopus hyperantus Linnaeus 1758

We present a genome assembly based on an individual female Aphantopus hyperantus, also known as Maniola hyperantus (the ringlet butterfly; Arthropoda; Insecta; Lepidoptera, Nymphalidae), scaffolded using data from a second, unrelated specimen. The genome sequence is 411 megabases in span. The majority of the assembly is scaffolded into 29 chromosomal pseudomolecules, including the Z sex chromosome.</ns4:p

ARES I: WASP-76 b, A Tale of Two HST Spectra*

status: publishe

ARES I: WASP-76 b, A Tale of Two HST Spectra

International audienceWe analyze the transmission and emission spectra of the ultra-hot Jupiter WASP-76 b, observed with the G141 grism of the Hubble Space Telescope's (HST) Wide Field Camera 3 (WFC3). We reduce and fit the raw data for each observation using the open-source software Iraclis before performing a fully Bayesian retrieval using the publicly available analysis suite TauREx 3. Previous studies of the WFC3 transmission spectra of WASP-76 b found hints of titanium oxide (TiO) and vanadium oxide (VO) or non-gray clouds. Accounting for a fainter stellar companion to WASP-76, we reanalyze this data and show that removing the effects of this background star changes the slope of the spectrum, resulting in these visible absorbers no longer being detected, eliminating the need for a non-gray cloud model to adequately fit the data but maintaining the strong water feature previously seen. However, our analysis of the emission spectrum suggests the presence of TiO and an atmospheric thermal inversion, along with a significant amount of water. Given the brightness of the host star and the size of the atmospheric features, WASP-76 b is an excellent target for further characterization with HST, or with future facilities, to better understand the nature of its atmosphere, to confirm the presence of TiO and to search for other optical absorbers

ARES IV: Probing the atmospheres of the two warm small planets HD 106315 c and HD 3167 c with the HST/WFC3 camera

We present an atmospheric characterization study of two medium sized planets bracketing the radius of Neptune: HD 106315 c (R$_{\rm{P}}$=4.98 $\pm$ 0.23 R$_{\oplus}$) and HD 3167 c (R$_{\rm{P}}$=2.740$_{-0.100}^{+0.106}$ R$_{\oplus}$). We analyse spatially scanned spectroscopic observations obtained with the G141 grism (1.125 - 1.650 $\mu$m) of the Wide Field Camera 3 (WFC3) onboard the Hubble Space Telescope. We use the publicly available Iraclis pipeline and TauREx3 atmospheric retrieval code and we detect water vapor in the atmosphere of both planets with an abundance of $\log_{10}[\mathrm{H_2O}]=-2.1^{+0.7}_{-1.3}$ ($\sim$5.68$\sigma$) and $\log_{10}[\mathrm{H_2O}]=-4.1^{+0.9}_{-0.9}$ ($\sim$3.17$\sigma$) for HD 106315 c and HD 3167 c, respectively. The transmission spectrum of HD 106315 c shows also a possible evidence of ammonia absorption ($\log_{10}[\mathrm {NH_3}]=-4.3^{+0.7}_{-2.0}$, $\sim$1.97$\sigma$ -even if it is not significant-), whilst carbon dioxide absorption features may be present in the atmosphere of HD 3167 c in the $\sim$1.1-1.6~$\mu$m wavelength range ($\log_{10}[\mathrm{CO_{2}}]= -2.4^{+0.7}_{-1.0}$, $\sim$3.28$\sigma$). However the CO$_2$ detection appears significant, it must be considered carefully and put into perspective. Indeed, CO$_2$ presence is not explained by 1D equilibrium chemistry models, and it could be due to possible systematics. The additional contribution of clouds, CO and CH$_4$ are discussed. HD 106315 c and HD 3167 c will be interesting targets for upcoming telescopes such as the James Webb Space Telescope (JWST) and the Atmospheric Remote-Sensing Infrared Exoplanet Large-Survey (Ariel).Etude des hydrocarbures en émission et absorption dasn les exoplanètes à haute températur