A duplication at chromosome 11q12.2–11q12.3 is associated with spinocerebellar ataxia type 20

Spinocerebellar ataxia type 20 (SCA20) has been linked to chromosome 11q12, but the underlying genetic defect has yet to be identified. We applied single-nucleotide polymorphism genotyping to detect structural alterations in the genomic DNA of patients with SCA20. We found a 260 kb duplication within the previously linked SCA20 region, which was confirmed by quantitative polymerase chain reaction and fiber fluorescence in situ hybridization, the latter also showing its direct orientation. The duplication spans 10 known and 2 unknown genes, and is present in all affected individuals in the single reported SCA20 pedigree. While the mechanism whereby this duplication may be pathogenic remains to be established, we speculate that the critical gene within the duplicated segment may be DAGLA, the product of which is normally present at the base of Purkinje cell dendritic spines and contributes to the modulation of parallel fiber-Purkinje cell synapses

Sexual Dimorphism of Staminate- and Pistillate-Phase Flowers of Saponaria officinalis (Bouncing Bet) Affects Pollinator Behavior and Seed Set

The sequential separation of male and female function in flowers of dichogamous species allows for the evolution of differing morphologies that maximize fitness through seed siring and seed set. We examined staminate- and pistillate-phase flowers of protandrous Saponaria officinalis for dimorphism in floral traits and their effects on pollinator attraction and seed set. Pistillate-phase flowers have larger petals, greater mass, and are pinker in color, but due to a shape change, pistillate-phase flowers have smaller corolla diameters than staminate-phase flowers. There was no difference in nectar volume or sugar content one day after anthesis, and minimal evidence for UV nectar guide patterns in staminate- and pistillate-phase flowers. When presented with choice arrays, pollinators discriminated against pistillate-phase flowers based on their pink color. Finally, in an experimental garden, in 2012 there was a negative correlation between seed set of an open-pollinated, emasculated flower and pinkness (as measured by reflectance spectrometry) of a pistillate-phase flower on the same plant in plots covered with shade cloth. In 2013, clones of genotypes chosen from the 2012 plants that produced pinker flowers had lower seed set than those from genotypes with paler flowers. Lower seed set of pink genotypes was found in open-pollinated and hand-pollinated flowers, indicating the lower seed set might be due to other differences between pink and pale genotypes in addition to pollinator discrimination against pink flowers. In conclusion, staminate- and pistillate-phase flowers of S. officinalis are dimorphic in shape and color. Pollinators discriminate among flowers based on these differences, and individuals whose pistillate-phase flowers are most different in color from their staminate-phase flowers make fewer seeds. We suggest morphological studies of the two sex phases in dichogamous, hermaphroditic species can contribute to understanding the evolution of sexual dimorphism in plants without the confounding effects of genetic differences between separate male and female individuals

Search for scalar diphoton resonances in the mass range 65-600 GeV with the ATLAS detector in pp collision data at √s = 8 TeV

A search for scalar particles decaying via narrow resonances into two photons in the mass range 65–600 GeV is performed using 20.3  fb−¹ of √s=8  TeV pp collision data collected with the ATLAS detector at the Large Hadron Collider. The recently discovered Higgs boson is treated as a background. No significant evidence for an additional signal is observed. The results are presented as limits at the 95% confidence level on the production cross section of a scalar boson times branching ratio into two photons, in a fiducial volume where the reconstruction efficiency is approximately independent of the event topology. The upper limits set extend over a considerably wider mass range than previous searches

Surviving in isolation: genetic variation, bottlenecks and reproductive strategies in the Canarian endemic Limonium macrophyllum (Plumbaginaceae)

Oceanic archipelagos are typically rich in endemic taxa, because they offer ideal conditions for diversification and speciation in isolation. One of the most remarkable evolutionary radiations on the Canary Islands comprises the 16 species included in Limonium subsection Nobiles, all of which are subject to diverse threats, and legally protected. Since many of them are single-island endemics limited to one or a few populations, there exists a risk that a loss of genetic variation might limit their longterm survival. In this study, we used eight newly developed microsatellite markers to characterize the levels of genetic variation and inbreeding in L. macrophyllum, a species endemic to the North-east of Tenerife that belongs to Limonium subsection Nobiles. We detected generally low levels of genetic variation over all populations (HT = 0.363), and substantial differentiation among populations (FST = 0.188;RST = 0.186) coupled with a negligible degree of inbreeding (F = 0.042). Obligate outcrossing may have maintained L. macrophyllum relatively unaffected by inbreeding despite the species’ limited dispersal ability and the genetic bottlenecks likely caused by a prolonged history of grazing. Although several factors still constitute a risk for the conservation of L. macrophyllum, the lack of inbreeding and the recent positive demographic trends observed in the populations of this species are factors that favour its future persistence

Measurement of the CP-violating phase ϕ<inf>s</inf> in Bs0→J/ψϕ decays in ATLAS at 13 TeV

A measurement of the Bs0→J/ψϕ decay parameters using 80.5fb-1 of integrated luminosity collected with the ATLAS detector from 13 Te proton–proton collisions at the LHC is presented. The measured parameters include the CP-violating phase ϕs, the width difference Δ Γ s between the Bs0 meson mass eigenstates and the average decay width Γ s. The values measured for the physical parameters are combined with those from 19.2fb-1 of 7 and 8 Te data, leading to the following: ϕs=-0.087±0.036(stat.)±0.021(syst.)radΔΓs=0.0657±0.0043(stat.)±0.0037(syst.)ps-1Γs=0.6703±0.0014(stat.)±0.0018(syst.)ps-1Results for ϕs and Δ Γ s are also presented as 68% confidence level contours in the ϕs–Δ Γ s plane. Furthermore the transversity amplitudes and corresponding strong phases are measured. ϕs and Δ Γ s measurements are in agreement with the Standard Model predictions

Campylobacter in primary animal production and control strategies to reduce the burden of human campylobacteriosis

Campylobacteriosis is one of the most important bacterial food-borne illnesses in humans. One significant source of infection is the handling and consumption of poultry meat, although other sources also contribute considerably. Controlling Campylobacter in broilers reduces the human burden of illness. Broilers can easily become colonised with Campylobacter and preventive measures in primary production have a limited and unpredictable effect. Vaccination, competitive exclusion, bacteriophage therapy and the use of bacteriocins are not yet commercially available. However, measures in the slaughterhouse can reduce contamination in the final product. At present, the most promising control strategy is to keep colonised and non-colonised flocks separate during slaughter ('scheduled processing'). The virtually Campylobacter-free meat can supply the fresh poultry meat market, while the meat from infected flocks can be treated to reduce the Campylobacter concentration. Meat from infected flocks can be treated by freezing but chemical decontamination appears to be more cost effective. A variant of this scenario is to treat only highly contaminated meat. The authors conclude that, until new techniques become commercially available, scheduled processing is the most cost-effective approach. Finally, the authors describe trends in antimicrobial resistance in Campylobacter

Immunity to Campylobacter: its role in risk assessment and epidemiology

Acquired immunity is an important factor in the epidemiology of campylobacteriosis in the developing world, apparently limiting symptomatic infection to children of less than two years. However, also in developed countries the highest incidence is observed in children under five years and the majority of Campylobacter infections are asymptomatic, which may be related to the effects of immunity and/or the ingested doses. Not accounting for immunity in epidemiological studies may lead to biased results due to the misclassification of Campylobacter-exposed but apparently healthy persons as unexposed. In risk assessment studies, health risks may be overestimated when immunity is neglected