Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus

TREX1 acts in concert with the SET complex in granzyme A-mediated apoptosis, and mutations in TREX1 cause Aicardi-Goutières syndrome and familial chilblain lupus. Here, we report monoallelic frameshift or missense mutations and one 3' UTR variant of TREX1 present in 9/417 individuals with systemic lupus erythematosus but absent in 1,712 controls (P = 4.1 x 10(-7)). We demonstrate that two mutant TREX1 alleles alter subcellular targeting. Our findings implicate TREX1 in the pathogenesis of SLE.     

Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy

Progressive supranuclear palsy (PSP) is a movement disorder with prominent tau neuropathology. Brain diseases with abnormal tau deposits are called tauopathies, the most common of which is Alzheimer's disease. Environmental causes of tauopathies include repetitive head trauma associated with some sports. To identify common genetic variation contributing to risk for tauopathies, we carried out a genome-wide association study of 1,114 individuals with PSP (cases) and 3,247 controls (stage 1) followed by a second stage in which we genotyped 1,051 cases and 3,560 controls for the stage 1 SNPs that yielded P ≤ 10(-3). We found significant previously unidentified signals (P < 5 × 10(-8)) associated with PSP risk at STX6, EIF2AK3 and MOBP. We confirmed two independent variants in MAPT affecting risk for PSP, one of which influences MAPT brain expression. The genes implicated encode proteins for vesicle-membrane fusion at the Golgi-endosomal interface, for the endoplasmic reticulum unfolded protein response and for a myelin structural component.     

Helminths of some tree frogs of the families Hylidae and Phyllomedusidae in an Atlantic rainforest fragment,Brazil

Despite the fact that Brazil is the most-studied country regarding helminths of amphibians, only around 8% of Brazilian anurans have had at least one study made of their helminth fauna. Therefore, the aim of this study was to describe the helminth community of nine species of Atlantic Rainforest anurans of two different families, eight of them with no previous study, and six of which are endemic to Brazil. The analysed hosts for their parasites were: Dendropsophus minutus (n = 48), Scinax auratus (n = 36), D. branneri (n = 33), D. elegans (n = 26), Hypsiboas albomarginatus (n = 22), Pithecopus nordestinus (n = 19), D. decipiens (n = 12), D. haddadi (n = 11) and S. x-signatus (n = 11). A total of 781 helminths were collected from 106 (48.6%) of 218 analysed hosts, 656 Centrorhyncus sp. cystacanths and 125 nematodes: 76 adults (25 Cosmocerca sp.; three Cosmocerceidae gen. sp.; 20 Cosmocerca parva, 20 Cosmocercella phyllomedusae, five Aplectana sp., two Oswaldocruzia sp. and one Rhabdias sp.), 43 encysted larvae (nine Porrocaecum sp. and 34 Brevimulticaecum sp.) and six Physaloptera sp. larvae. Anurans may display many roles within the helminth life cycles, as they act as both predator and prey to a wide variety of animals. Consequently, we have found helminths that use anurans as definitive, intermediate and paratenic hosts. Opposing other surveys in which nematodes are the most prevalent and abundant parasites, acanthocephalans were the most prevalent taxa. These findings highlight the lack of knowledge regarding the helminth fauna of anurans and reveal many gaps with respect to their infection patterns in amphibians.     

Mutual phase-locking of microwave spin torque nano-oscillators

The spin torque effect that occurs in nanometre-scale magnetic multilayer devices can be used to generate steady-state microwave signals in response to a d.c. electrical current. This establishes a new functionality for magneto-electronic structures that are more commonly used as magnetic field sensors and magnetic memory elements. The microwave power emitted from a single spin torque nano-oscillator (STNO) is at present typically less than 1 nW. To achieve a more useful power level (on the order of microwatts), a device could consist of an array of phase coherent STNOs, in a manner analogous to arrays of Josephson junctions and larger semiconductor oscillators. Here we show that two STNOs in close proximity mutually phase-lock-that is, they synchronize, which is a general tendency of interacting nonlinear oscillator systems. The phase-locked state is distinct, characterized by a sudden narrowing of signal linewidth and an increase in power due to the coherence of the individual oscillators. Arrays of phase-locked STNOs could be used as nanometre-scale reference oscillators. Furthermore, phase control of array elements (phased array) could lead to nanometre-scale directional transmitters and receivers for wireless communications.     

Insolation-driven changes in atmospheric circulation over the past 116,000 years in subtropical Brazil

During the last glacial period, large millennial-scale temperature oscillations--the 'Dansgaard/Oeschger' cycles--were the primary climate signal in Northern Hemisphere climate archives from the high latitudes to the tropics. But whether the influence of these abrupt climate changes extended to the tropical and subtropical Southern Hemisphere, where changes in insolation are thought to be the main direct forcing of climate, has remained unclear. Here we present a high-resolution oxygen isotope record of a U/Th-dated stalagmite from subtropical southern Brazil, covering the past 116,200 years. The oxygen isotope signature varies with shifts in the source region and amount of rainfall in the area, and hence records changes in atmospheric circulation and convective intensity over South America. We find that these variations in rainfall source and amount are primarily driven by summer solar radiation, which is controlled by the Earth's precessional cycle. The Dansgaard/Oeschger cycles can be detected in our record and therefore we confirm that they also affect the tropical hydrological cycle, but that in southern subtropical Brazil, millennial-scale climate changes are not as dominant as they are in the Northern Hemisphere.