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Genome-wide association studies have identified hundreds of genetic clues to disease. Kelly Rae Chi looks at three to see just how on-target the approach seems to be.
Phosphate-based fertilizers have helped spur agricultural gains in the past century, but the world may soon run out of them. Natasha Gilbert investigates the potential phosphate crisis.
Small oscillations of surface electrons that manipulate light on the nanoscale could be the route to applications as disparate as faster computer chips and cures for cancer. Joerg Heber reports.
Pauline C. Ng, Sarah S. Murray, Samuel Levy and J. Craig Venter find differences in results from two direct-toconsumer genetics-testing companies. They therefore give nine recommendations to improve predictions.
Science is finding evidence of genetic diversity among groups of people as well as among individuals. This discovery should be embraced, not feared, say Bruce T. Lahn and Lanny Ebenstein.
Copy-number variation — deleted or duplicated regions of DNA — is widespread in the human genome. A systematic population survey of the common variants provides an invaluable resource for further studies.
A quantum system can undergo tunnelling even without a barrier to tunnel through. The latest experiments visualize this process in exquisite detail, completely reconstructing the state of the evolving system.
Replacing a missing gene in adult colour-blind monkeys restores normal colour vision. How the new photoreceptor cells produced by this therapy lead to colour vision is a fascinating question.
Rival experimental methods to determine the Universe's expansion are contending to become the fashionable face of cosmology. Fresh theoretical calculations make one of them the hot tip for next season.
The surface of plant leaves — the phyllosphere — is home to many microbes. A 'community proteogenomics' approach offers a fresh look at what it takes to survive and thrive in this unique habitat.
Argonaute proteins inhibit gene expression by binding to messenger RNA via a small nucleic-acid guide. Structures of the Argonaute complex bound to target RNA reveal snapshots of a silencing machine at work.
The transmission of information from one place to another by light waves sent through waveguides is hampered by light attenuation and scattering loss. Magnetic photonic crystals could provide a solution to such problems.
The Argonaute (Ago) family of proteins provides the slicer activity of the RNA-induced silencing complex, with the Ago component of the complex providing the catalytic residues governing guide-strand mediated site-specific cleavage of target RNA. Here, the crystal structures of ternary complexes of Thermus thermophilus Ago catalytic mutants are reported and analysed.
Polycomb group proteins are involved in the epigenetic maintenance of repressive chromatin states, with the gene-silencing activity of the Polycomb repressive complex 2 (PRC2) dependent on its ability to trimethylate lysine 27 of histone H3. The carboxy-terminal domain of the EED subunit of the complex is now shown to specifically bind to histone tails carrying trimethyl-lysine residues associated with repressive chromatin marks, leading to activation of the methyltransferase activity of PRC2.
There has been a long-standing search for quantum signatures of classical chaos. Here, an atomic system that can be used to study quantum chaos — the quantum kicked top — is experimentally realized and directly observed to reveal dynamics in quantum phase space that have a chaotic classical counterpart. Clear differences are noted in the sensitivity to perturbation in chaotic versus regular regimes and dynamical entanglement is proposed as a signature of chaos.
The quantum Hall effect arises in two-dimensional electron systems and is characterized by current being carried by electrons along the edges of the system, in so-called chiral edge states (CESs), as a consequence of nontrivial topological properties of the bulk electronic band structure. Recently, it was theoretically predicted that electromagnetic analogues of CESs could be observed in photonic crystals; here, this is experimentally demonstrated.
About 34 million years ago, the first major Antarctic ice sheets appeared, suggesting that major cooling had taken place; however, the global transition into this icehouse climate remains poorly constrained. A new, continuous record of sea surface temperature (SST) from an ocean sediment core in the East Tasman Plateau now suggests that there was almost no latitudinal SST gradient between subequatorial and subpolar regions during the Early Eocene age (55–50 million years ago).
Although rhyolite magma has fuelled some of the Earth's largest explosive volcanic eruptions, our understanding of these events is incomplete due to the previous lack of direct observation of these eruptions. On 1 May 2008, Chaitén volcano in Chile erupted rhyolite magma unexpectedly and explosively. Here, petrological and experimental data are presented that indicate that the hydrous rhyolite magma at Chaitén ascended very rapidly from storage depth to near-surface, with velocities of the order of one metre per second.
Red–green colour blindness is the most common single locus genetic disorder. Gene therapy is now used in adult monkeys, colour blind since birth, to provide the receptoral basis for trichromatic colour vision. Despite the expectation from classic visual deprivation experiments that neural connections established during development are incapable of processing an input not present from birth, treated monkeys displayed trichromatic colour vision behaviour.
Although the innate immune system is known to be critical for the early detection of invading pathogens and for initiating host defence systems, little is known about how it is galvanized to respond to DNA-based microbes. STING (stimulator of interferon genes) is now shown to be necessary for the initiation of effective type I interferon production and, accordingly, there is an increase in the susceptibility of Sting-knockout mice to infection by the DNA virus HSV-1.
Prohibitins are ubiquitous, evolutionarily conserved proteins, which form a ring-like complex at the inner membrane of the mitochondria. Here, the mitochondrial prohibitin complex is shown to promote longevity by modulating mitochondrial function and fat metabolism in the nematode Caenorhabditis elegans, with its deficiency shortening the lifespan of otherwise wild-type animals. However, under conditions of dietary restriction, knockdown of prohibitin promotes longevity.
There are approximately 170 million people infected with hepatitis C virus (HCV) worldwide. About 30% of individuals with persistent HCV infection develop chronic liver disease, with various epidemiological, viral and host factors having been implicated in the differences in HCV clearance or persistence. Here, a single nucleotide polymorphism recently shown to be strongly associated with a difference in response to HCV drug treatment is also shown to be associated with viral clearance.
Autism is a highly heritable neurodevelopmental disorder, and yet few specific susceptibility genes have been identified to date. A linkage and association mapping study using half a million genome-wide single nucleotide polymorphisms is now described in a common set of 1,031 multiplex autism families. The linkage regions identified provide targets for rare variation screening whereas the discovery of a single novel association, SEMA5A, demonstrates the action of common variants.
Advances in next generation sequencing have made it possible to precisely characterize the coding mutations that occur during the development and progression of individual cancers. Here, this technique is used to sequence the genomes and transcriptomes of an oestrogen-receptor-α-positive metastatic lobular breast cancer; significant evolution is found to occur with disease progression.
Understanding the functional output of the genome — the transcriptome — is an essential step on the way to understanding human biology and disease. Current transcriptome analysis methods are indirect, typically requiring RNA to be converted to complementary DNA (cDNA) before measurements. Single molecule RNA sequencing without prior conversion of RNA to cDNA is now reported.
The activation of Janus kinase 2 (JAK2), a non-receptor tyrosine kinase that regulates several cellular processes by inducing cytoplasmic signalling cascades, is a frequent event in haematological malignancies. Here, human JAK2 is shown to be present in the nucleus of haematopoietic cells, where it directly phosphorylates Tyr 41 on histone H3, thus preventing the binding of heterochromatin protein Iα.
Some of the small RNAs involved in RNA silencing require the addition of a 2′-O-methyl group on the 3′ terminal nucleotide in order for the precursor RNA to be correctly processed. This modification is performed by the HEN1 RNA methyltransferase, the crystal structure of which — from Arabidopsis — is now solved.
An expert in the molecular mechanisms of taste, Margolskee recently accepted a faculty position at the Monell Chemical Senses Center in Philadelphia, Pennsylvania.
The Japanese city of Nagoya is aiming to turn a history of manufacturing success into fertile ground for science applications. David Cyranoski surveys its potential.
