The central image of a gravitationally lensed quasar

A galaxy can act as a gravitational lens, producing multiple images of a background object. Theory predicts that there should be an odd number of images produced by the lens, but hitherto almost all lensed objects have two or four images. The missing 'central' images, which should be faint and appear near the centre of the lensing galaxy, have long been sought as probes of galactic cores too distant to resolve with ordinary observations. There are five candidates for central images, but in one case the third image is not necessarily the central one, and in the others the putative central images might be foreground sources. Here we report a secure identification of a central image, based on radio observations of one of the candidates. Lens models using the central image reveal that the massive black hole at the centre of the lensing galaxy has a mass of <2 x 10(8) solar masses (M(o)), and the galaxy's surface density at the location of the central image is > 20,000M(o) pc(-2), which is in agreement with expections based on observations of galaxies that are much closer to the Earth.     

New gene functions in megakaryopoiesis and platelet formation

Platelets are the second most abundant cell type in blood and are essential for maintaining haemostasis. Their count and volume are tightly controlled within narrow physiological ranges, but there is only limited understanding of the molecular processes controlling both traits. Here we carried out a high-powered meta-analysis of genome-wide association studies (GWAS) in up to 66,867 individuals of European ancestry, followed by extensive biological and functional assessment. We identified 68 genomic loci reliably associated with platelet count and volume mapping to established and putative novel regulators of megakaryopoiesis and platelet formation. These genes show megakaryocyte-specific gene expression patterns and extensive network connectivity. Using gene silencing in Danio rerio and Drosophila melanogaster, we identified 11 of the genes as novel regulators of blood cell formation. Taken together, our findings advance understanding of novel gene functions controlling fate-determining events during megakaryopoiesis and platelet formation, providing a new example of successful translation of GWAS to function.     

Supernova SN 2011fe from an exploding carbon-oxygen white dwarf star

Type Ia supernovae have been used empirically as 'standard candles' to demonstrate the acceleration of the expansion of the Universe even though fundamental details, such as the nature of their progenitor systems and how the stars explode, remain a mystery. There is consensus that a white dwarf star explodes after accreting matter in a binary system, but the secondary body could be anything from a main-sequence star to a red giant, or even another white dwarf. This uncertainty stems from the fact that no recent type Ia supernova has been discovered close enough to Earth to detect the stars before explosion. Here we report early observations of supernova SN 2011fe in the galaxy M101 at a distance from Earth of 6.4 megaparsecs. We find that the exploding star was probably a carbon-oxygen white dwarf, and from the lack of an early shock we conclude that the companion was probably a main-sequence star. Early spectroscopy shows high-velocity oxygen that slows rapidly, on a timescale of hours, and extensive mixing of newly synthesized intermediate-mass elements in the outermost layers of the supernova. A companion paper uses pre-explosion images to rule out luminous red giants and most helium stars as companions to the progenitor.     

DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome

Acute myeloid leukaemia is a highly malignant haematopoietic tumour that affects about 13,000 adults in the United States each year. The treatment of this disease has changed little in the past two decades, because most of the genetic events that initiate the disease remain undiscovered. Whole-genome sequencing is now possible at a reasonable cost and timeframe to use this approach for the unbiased discovery of tumour-specific somatic mutations that alter the protein-coding genes. Here we present the results obtained from sequencing a typical acute myeloid leukaemia genome, and its matched normal counterpart obtained from the same patient's skin. We discovered ten genes with acquired mutations; two were previously described mutations that are thought to contribute to tumour progression, and eight were new mutations present in virtually all tumour cells at presentation and relapse, the function of which is not yet known. Our study establishes whole-genome sequencing as an unbiased method for discovering cancer-initiating mutations in previously unidentified genes that may respond to targeted therapies.     

Molecular identification of a retinal cell type that responds to upward motion

The retina contains complex circuits of neurons that extract salient information from visual inputs. Signals from photoreceptors are processed by retinal interneurons, integrated by retinal ganglion cells (RGCs) and sent to the brain by RGC axons. Distinct types of RGC respond to different visual features, such as increases or decreases in light intensity (ON and OFF cells, respectively), colour or moving objects. Thus, RGCs comprise a set of parallel pathways from the eye to the brain. The identification of molecular markers for RGC subsets will facilitate attempts to correlate their structure with their function, assess their synaptic inputs and targets, and study their diversification. Here we show, by means of a transgenic marking method, that junctional adhesion molecule B (JAM-B) marks a previously unrecognized class of OFF RGCs in mice. These cells have asymmetric dendritic arbors aligned in a dorsal-to-ventral direction across the retina. Their receptive fields are also asymmetric and respond selectively to stimuli moving in a soma-to-dendrite direction; because the lens reverses the image of the world on the retina, these cells detect upward motion in the visual field. Thus, JAM-B identifies a unique population of RGCs in which structure corresponds remarkably to function.     

Aerosol oxalate and its implication to haze pollution in Shanghai, China

A total of 238 samples of PM2.5and TSP were analyzed to study the characteristics,sources,and formation pathways of aerosol oxalate in Shanghai in four seasons of 2007.The concentrations of oxalate were0.07–0.41 lg/m3in PM2.5and 0.10–0.48 lg/m3in TSP,respectively.Oxalate displayed a seasonal variation of autumn[summer[winter[spring in both PM2.5and TSP and was dominantly present in PM2.5in all samples.Correlation between oxalate and K?and high ratio of oxalate/K?suggested that biomass burning was a secondary source of aerosol oxalate in Shanghai,in addition to urban VOCs sources(vehicular and industrial emissions),especially in autumn.Secondary formation accounted for the majority of aerosol oxalate in Shanghai,which was supported by the high correlation of oxalate with nssSO42-,K?and NO3-,proceeding from different mechanisms.Relatively high ambient RH together with high cloud cover was found benefiting the secondary formation of aerosol oxalate.The in-cloud process(aqueous-phase oxidation)was proposed to be likely the major formation pathway of aerosol oxalate in Shanghai,which was supported by the high correlation of oxalate with nss-SO42-and K?,dominant residence of oxalate in droplet mode and result of favorable meteorological condition analysis.High correlation of oxalate and NO3-reflected the OH radical involved oxidation chemistry of the two species in the atmosphere and also suggested that gas-particle surface reactions and the evaporation–condensation process were both possible secondary formation pathways of aerosol oxalate in coarser particle mode([1.0 lm).As a major water-soluble organic compound in aerosols,concentration of oxalate showed a distinct negative correlation to the atmospheric visibility,which implied that aerosol organic compounds could play an important role in haze pollution as well as in air quality in Shanghai.     

Multiplex amplification of the mammoth mitochondrial genome and the evolution of Elephantidae

In studying the genomes of extinct species, two principal limitations are typically the small quantities of endogenous ancient DNA and its degraded condition, even though products of up to 1,600 base pairs (bp) have been amplified in rare cases. Using small overlapping polymerase chain reaction products, longer stretches of sequences or even whole mitochondrial genomes can be reconstructed, but this approach is limited by the number of amplifications that can be performed from rare samples. Thus, even from well-studied Pleistocene species such as mammoths, ground sloths and cave bears, no DNA sequences of more than about 1,000 bp have been reconstructed. Here we report the complete mitochondrial genome sequence of the Pleistocene woolly mammoth Mammuthus primigenius. We used about 200 mg of bone and a new approach that allows the simultaneous retrieval of multiple sequences from small amounts of degraded DNA. Our phylogenetic analyses show that the mammoth was more closely related to the Asian than to the African elephant. However, the divergence of mammoth, African and Asian elephants occurred over a short time, corresponding to only about 7% of the total length of the phylogenetic tree for the three evolutionary lineages.     

Mapping and sequencing of structural variation from eight human genomes

Genetic variation among individual humans occurs on many different scales, ranging from gross alterations in the human karyotype to single nucleotide changes. Here we explore variation on an intermediate scale--particularly insertions, deletions and inversions affecting from a few thousand to a few million base pairs. We employed a clone-based method to interrogate this intermediate structural variation in eight individuals of diverse geographic ancestry. Our analysis provides a comprehensive overview of the normal pattern of structural variation present in these genomes, refining the location of 1,695 structural variants. We find that 50% were seen in more than one individual and that nearly half lay outside regions of the genome previously described as structurally variant. We discover 525 new insertion sequences that are not present in the human reference genome and show that many of these are variable in copy number between individuals. Complete sequencing of 261 structural variants reveals considerable locus complexity and provides insights into the different mutational processes that have shaped the human genome. These data provide the first high-resolution sequence map of human structural variation--a standard for genotyping platforms and a prelude to future individual genome sequencing projects.