A catalogue of genetic information from some 60,000 people reveals unexpected surprises — and highlights the need to make genomic data publicly accessible to aid studies of rare diseases.
Modern gene-editing tools are being used to understand the mechanisms of evolution.
It is one of the last Caribbean countries to get hit.
Result could be closest thing yet to an observation of the bizarre phenomenon.
Ecologists fear plan to seal off the United States from Mexico would put wildlife at risk.
Cash-strapped Zewail City of Science and Technology is the legacy of Arab chemist Ahmed Zewail.
Excitement rises over chance of new physics from particle-du-jour.
Scientists know that there is a colossal amount of plastic in the oceans. But they don’t know where it all is, what it looks like or what damage it does.
Polymers have infiltrated almost every aspect of modern life. Now researchers are working on next-generation forms.
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In the 1950s, the discovery of a class of 'living' polymerization reaction revolutionized the field of polymer science by providing a way of controlling the molecular-weight distribution of polymers. The effects reverberate to this day.
The exome is the portion of the genome that encodes proteins. Aggregation of 60,706 human exome sequences from 14 studies provides in-depth insight into genetic variation in humans. See Article p.285
Inactivation of a group of sleep-promoting neurons through dopamine signalling can cause acute or chronic wakefulness in flies, depending on changes in two different potassium-channel proteins. See Letter p.333
The identification of the active site of an iron-containing catalyst raises hopes of designing practically useful catalysts for the room-temperature conversion of methane to methanol, a potential fuel for vehicles. See Letter p.317
Several hypotheses have been formulated to explain how cells make the first lineage decision during mammalian embryonic development. An overarching mechanism now unifies these disparate models. See Letter p.344
'Overdoped' high-temperature superconductors, which have a high density of charge carriers, were thought to be well understood. An experiment challenges what we know about quantum physics in such systems. See Letter p.309
Exome sequencing data from 60,706 people of diverse geographic ancestry is presented, providing insight into genetic variation across populations, and illuminating the relationship between DNA variants and human disease.
A subset of dorsal clock neurons are identified in Drosophila as sleep-promoting cells, which participate in a feedback loop with pacemaker neurons to drive both midday siesta and night-time sleep.
Skin stem cells, but not their progenitors, are able to form tumours owing to the ability of oncogene-targeted stem cells to increase symmetric self-renewing division and a higher p53-dependent resistance to apoptosis.
A new method based on protein engineering to trap an intact complex between Siz1, SUMO-bound E2, and PCNA for structure determination.
The scaling law for the critical temperature and zero-temperature stiffness in an overdoped copper oxide semiconductor does not conform to the standard Bardeen–Cooper–Schrieffer description.
Thin-film solar cells were fabricated using layered two-dimensional perovskites with near-single-crystalline out-of-plane alignment, which facilitates efficient charge transport leading to greatly improved power conversion efficiency with technologically relevant stability to light exposure, humidity and heat stress.
Iron-containing zeolites have an exceptional ability to convert methane into methanol, but their active site have been hard to study; now, magnetic circular dichroism has been used to explore the reactive species, providing a technique that should be generally applicable, and revealing the value of constraining active sites within a lattice to improve catalyst functionality.
In the past 50 years, cross-coupling reactions mediated by transition metals have changed the way in which complex organic molecules are synthesized. The predictable and chemoselective nature of these transformations has led to their widespread adoption across many areas of chemical research. However, the construction of a bond between two sp3-hybridized carbon atoms, a fundamental unit of organic chemistry, remains an important yet elusive objective for engineering cross-coupling reactions. In comparison to related procedures with sp2-hybridized species, the development of methods for sp3–sp3 bond formation via transition metal catalysis has been hampered historically by deleterious side-reactions, such as β-hydride elimination with palladium catalysis or the reluctance of alkyl halides to undergo oxidative addition. To address this issue, nickel-catalysed cross-coupling processes can be used to form sp3–sp3 bonds that utilize organometallic nucleophiles and alkyl electrophiles. In particular, the coupling of alkyl halides with pre-generated organozinc, Grignard and organoborane species has been used to furnish diverse molecular structures. However, the manipulations required to produce these activated structures is inefficient, leading to poor step- and atom-economies. Moreover, the operational difficulties associated with making and using these reactive coupling partners, and preserving them through a synthetic sequence, has hindered their widespread adoption. A generically useful sp3–sp3 coupling technology that uses bench-stable, native organic functional groups, without the need for pre-functionalization or substrate derivatization, would therefore be valuable. Here we demonstrate that the synergistic merger of photoredox and nickel catalysis enables the direct formation of sp3–sp3 bonds using only simple carboxylic acids and alkyl halides as the nucleophilic and electrophilic coupling partners, respectively. This metallaphotoredox protocol is suitable for many primary and secondary carboxylic acids. The merit of this coupling strategy is illustrated by the synthesis of the pharmaceutical tirofiban in four steps from commercially available starting materials.
Experiments show that magnesium oxide can dissolve in core-forming metallic melts at very high temperatures; core formation models suggest that a giant impact during Earth’s accretion could have contributed large amounts of magnesium to the early core, the subsequent exsolution of which would have generated enough gravitational energy to power an early geodynamo and produce an ancient magnetic field.
Natural variation in the courtship song of Drosophila is mapped to the intronic insertion of a retroelement at the slowpoke locus, which encodes an ion channel.
Sleep-promoting neurons in Drosophila are shown to switch between electrical activity and silence as a function of sleep need; the switch is operated by dopamine and involves the antagonistic regulation of two potassium channels.
A human neurodevelopmental model fills the current knowledge gap in the cellular biology of Williams syndrome and could lead to further insights into the molecular mechanism underlying the disorder and the human social brain.
Here, a combination of biophysical measurement, modelling, and genetic and experimental manipulation of cell contractile components is used to analyse the formation of the inner cell mass in the early mouse embryo.
Size-selective pores in the HIV-1 capsid hexamer recruit nucleotides, thereby allowing reverse transcription to take place inside the capsid.
Electron cryomicroscopy structures are provided for all core and supernumerary protein subunits of mammalian complex I, a 45-subunit enzyme that powers eukaryotic respiration.