A velocity dipole in the distribution of radio galaxies

The motion of our Galaxy through the Universe is reflected in a systematic shift in the temperature of the cosmic microwave background-because of the Doppler effect, the temperature of the background is about 0.1 per cent higher in the direction of motion, with a correspondingly lower temperature in the opposite direction. This effect is known as dipole anisotropy. If our standard cosmological model is correct, a related dipole effect should also be present as an enhancement in the surface density of distant galaxies in the direction of motion. The main obstacle to finding this signal is the uneven distribution of galaxies in the local supercluster, which drowns out the small cosmological signal. Here we report a detection of the expected cosmological dipole anisotropy in the distribution of galaxies. We use a survey of radio galaxies that are mainly located at cosmological distances, so the contamination from nearby clusters is small. When local radio galaxies are removed from the sample, the resulting dipole is in the same direction as the temperature anisotropy of the microwave background, and close to the expected amplitude. The result therefore confirms the standard cosmological interpretation of the microwave background.     

Evidence from the Pacific troposphere for large global sources of oxygenated organic compounds

The presence of oxygenated organic compounds in the troposphere strongly influences key atmospheric processes. Such oxygenated species are, for example, carriers of reactive nitrogen and are easily photolysed, producing free radicals-and so influence the oxidizing capacity and the ozone-forming potential of the atmosphere-and may also contribute significantly to the organic component of aerosols. But knowledge of the distribution and sources of oxygenated organic compounds, especially in the Southern Hemisphere, is limited. Here we characterize the tropospheric composition of oxygenated organic species, using data from a recent airborne survey conducted over the tropical Pacific Ocean (30 degrees N to 30 degrees S). Measurements of a dozen oxygenated chemicals (carbonyls, alcohols, organic nitrates, organic pernitrates and peroxides), along with several C2-C8 hydrocarbons, reveal that abundances of oxygenated species are extremely high, and collectively, oxygenated species are nearly five times more abundant than non-methane hydrocarbons in the Southern Hemisphere. Current atmospheric models are unable to correctly simulate these findings, suggesting that large, diffuse, and hitherto-unknown sources of oxygenated organic compounds must therefore exist. Although the origin of these sources is still unclear, we suggest that oxygenated species could be formed via the oxidation of hydrocarbons in the atmosphere, the photochemical degradation of organic matter in the oceans, and direct emissions from terrestrial vegetation.     

Protein-DNA and protein-hormone interactions in prealbumin: a model of the thyroid hormone nuclear receptor?

High resolution X-ray analysis of the hormone-binding protein prealbumin has shown that it has a structural complementarity to double-helical DNA. The proposed binding site is composed of two symmetry-related beta-sheets containing a pair of helically disposed arms, which can interact with the bases in the wide groove of DNA. A palindromic target sequence is indicated by the symmetry of the protein. The two identical thyroid hormone binding sites on prealbumin are located in a channel that runs completely through the molecule. These two structural features suggest prealbumin as a model for the thyroid hormone nuclear receptor, providing a number of detailed predictions of its properties.     

A copy number variation morbidity map of developmental delay

To understand the genetic heterogeneity underlying developmental delay, we compared copy number variants (CNVs) in 15,767 children with intellectual disability and various congenital defects (cases) to CNVs in 8,329 unaffected adult controls. We estimate that ～14.2% of disease in these children is caused by CNVs >400 kb. We observed a greater enrichment of CNVs in individuals with craniofacial anomalies and cardiovascular defects compared to those with epilepsy or autism. We identified 59 pathogenic CNVs, including 14 new or previously weakly supported candidates, refined the critical interval for several genomic disorders, such as the 17q21.31 microdeletion syndrome, and identified 940 candidate dosage-sensitive genes. We also developed methods to opportunistically discover small, disruptive CNVs within the large and growing diagnostic array datasets. This evolving CNV morbidity map, combined with exome and genome sequencing, will be critical for deciphering the genetic basis of developmental delay, intellectual disability and autism spectrum disorders.     

Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2

We have identified a recurrent de novo pericentromeric deletion in 16p11.2-p12.2 in four individuals with developmental disabilities by microarray-based comparative genomic hybridization analysis. The identification of common clinical features in these four individuals along with the characterization of complex segmental duplications flanking the deletion regions suggests that nonallelic homologous recombination mediated these rearrangements and that deletions in 16p11.2-p12.2 constitute a previously undescribed syndrome.     

The Medicago genome provides insight into the evolution of rhizobial symbioses

Legumes (Fabaceae or Leguminosae) are unique among cultivated plants for their ability to carry out endosymbiotic nitrogen fixation with rhizobial bacteria, a process that takes place in a specialized structure known as the nodule. Legumes belong to one of the two main groups of eurosids, the Fabidae, which includes most species capable of endosymbiotic nitrogen fixation. Legumes comprise several evolutionary lineages derived from a common ancestor 60 million years ago (Myr ago). Papilionoids are the largest clade, dating nearly to the origin of legumes and containing most cultivated species. Medicago truncatula is a long-established model for the study of legume biology. Here we describe the draft sequence of the M. truncatula euchromatin based on a recently completed BAC assembly supplemented with Illumina shotgun sequence, together capturing ～94% of all M. truncatula genes. A whole-genome duplication (WGD) approximately 58 Myr ago had a major role in shaping the M. truncatula genome and thereby contributed to the evolution of endosymbiotic nitrogen fixation. Subsequent to the WGD, the M. truncatula genome experienced higher levels of rearrangement than two other sequenced legumes, Glycine max and Lotus japonicus. M. truncatula is a close relative of alfalfa (Medicago sativa), a widely cultivated crop with limited genomics tools and complex autotetraploid genetics. As such, the M. truncatula genome sequence provides significant opportunities to expand alfalfa's genomic toolbox.     

A synthetic homing endonuclease-based gene drive system in the human malaria mosquito

Genetic methods of manipulating or eradicating disease vector populations have long been discussed as an attractive alternative to existing control measures because of their potential advantages in terms of effectiveness and species specificity. The development of genetically engineered malaria-resistant mosquitoes has shown, as a proof of principle, the possibility of targeting the mosquito's ability to serve as a disease vector. The translation of these achievements into control measures requires an effective technology to spread a genetic modification from laboratory mosquitoes to field populations. We have suggested previously that homing endonuclease genes (HEGs), a class of simple selfish genetic elements, could be exploited for this purpose. Here we demonstrate that a synthetic genetic element, consisting of mosquito regulatory regions and the homing endonuclease gene I-SceI, can substantially increase its transmission to the progeny in transgenic mosquitoes of the human malaria vector Anopheles gambiae. We show that the I-SceI element is able to invade receptive mosquito cage populations rapidly, validating mathematical models for the transmission dynamics of HEGs. Molecular analyses confirm that expression of I-SceI in the male germline induces high rates of site-specific chromosomal cleavage and gene conversion, which results in the gain of the I-SceI gene, and underlies the observed genetic drive. These findings demonstrate a new mechanism by which genetic control measures can be implemented. Our results also show in principle how sequence-specific genetic drive elements like HEGs could be used to take the step from the genetic engineering of individuals to the genetic engineering of populations.     

Reduced methane growth rate explained by decreased Northern Hemisphere microbial sources

Atmospheric methane (CH(4)) increased through much of the twentieth century, but this trend gradually weakened until a stable state was temporarily reached around the turn of the millennium, after which levels increased once more. The reasons for the slowdown are incompletely understood, with past work identifying changes in fossil fuel, wetland and agricultural sources and hydroxyl (OH) sinks as important causal factors. Here we show that the late-twentieth-century changes in the CH(4) growth rates are best explained by reduced microbial sources in the Northern Hemisphere. Our results, based on synchronous time series of atmospheric CH(4) mixing and (13)C/(12)C ratios and a two-box atmospheric model, indicate that the evolution of the mixing ratio requires no significant change in Southern Hemisphere sources between 1984 and 2005. Observed changes in the interhemispheric difference of (13)C effectively exclude reduced fossil fuel emissions as the primary cause of the slowdown. The (13)C observations are consistent with long-term reductions in agricultural emissions or another microbial source within the Northern Hemisphere. Approximately half (51?±?18%) of the decrease in Northern Hemisphere CH(4) emissions can be explained by reduced emissions from rice agriculture in Asia over the past three decades associated with increases in fertilizer application and reductions in water use.