Search

Long non-coding RNAs transcribed at DNA damaged sites can play part in DNA damage response. Here the authors reveal that damaged induced lncRNAs can form DNA:RNA hybrids at resected DNA-ends. These hybrids are involved in recruiting HR-mediated repair machinery which, in turn, controls their level at DSBs.

Population-based genome sequencing provides an increasingly rich resource for the identification of low-frequency, large effect variants associated with clinically important phenotypes. Timpson et al. use UK10K data to identify a variant of the APOC3gene strongly associated with plasma triglyceride levels.

Carbon sequestration on agricultural land holds great promise for combating climate change. This study estimates the mitigation potential of three sequestration practices—soil carbon enhancement, biochar application on cropland and silvo-pastoral systems—while identifying cost-effective mitigation portfolios.

Quantum neural networks could help analysing the output of quantum computers and quantum simulators of growing complexity. Here, the authors use a 7-qubit superconducting quantum processor to show how a quantum convolutional neural network can correctly recognise the phase of a quantum many-body state.

Levels of circulating thyrotropin and free thyroxine reflect thyroid function, however, their genetic underpinnings remain poorly understood. Taylor et al. take advantage of whole-genome sequence data from cohorts within the UK10K project to identify novel variants associated with these traits.

Low read depth sequencing of whole genomes and high read depth exomes of nearly 10,000 extensively phenotyped individuals are combined to help characterize novel sequence variants, generate a highly accurate imputation reference panel and identify novel alleles associated with lipid-related traits; in addition to describing population structure and providing functional annotation of rare and low-frequency variants the authors use the data to estimate the benefits of sequencing for association studies.

The non-coding RNA RNU4-2, which is highly expressed in the developing human brain, is identified as a syndromic neurodevelopmental disorder gene, and, using RNA sequencing, 5′ splice-site use is shown to be systematically disrupted in individuals with RNU4-2 variants.

Sexual dimorphism in genetic vulnerability to schizophrenia, systemic lupus erythematosus and Sjögren’s syndrome is linked to differential protein abundance from alleles of complement component 4.

To promote the recovery of the currently declining global trends in terrestrial biodiversity, increases in both the extent of land under conservation management and the sustainability of the global food system from farm to fork are required.

Integrating inventory data with machine learning models reveals the global composition of tree types—needle-leaved evergreen individuals dominate, followed by broadleaved evergreen and deciduous trees—and climate change risks.

Aromatic two-dimensional covalent organic frameworks (2D COFs) are hailed as candidates for electronic and optical devices, yet only few applications were demonstrated. Here, the authors show a triazine based COF with UV/VIS real-time response and increase in bulk conductivity to HCl vapour as a chemical trigger.

The goal of the 1000 Genomes Project is to provide in-depth information on variation in human genome sequences. In the pilot phase reported here, different strategies for genome-wide sequencing, using high-throughput sequencing platforms, were developed and compared. The resulting data set includes more than 95% of the currently accessible variants found in any individual, and can be used to inform association and functional studies.

Results for the final phase of the 1000 Genomes Project are presented including whole-genome sequencing, targeted exome sequencing, and genotyping on high-density SNP arrays for 2,504 individuals across 26 populations, providing a global reference data set to support biomedical genetics.

Stormorken syndrome is associated with the R304W mutation in STIM1, which is a Calcium sensor in the endoplasmic reticulum. Here authors use FRET and electrophysiology to show that R304W induces STIM1 conformational extension by a dual mechanism resulting in constitutive activation of Ca2+ channels.

This study uses single molecule mechanical experiments and computer simulations to measure the speed by which an invading DNA or RNA strand displaces a bound strand from a double helix.

Remotely sensed NDVI data and contemporary field data from 84 grasslands on 6 continents show increasing divergence in aboveground plant biomass between sites in different bioclimatic regions.

Migrasomes are signaling organelles that form in retraction fibers of migrating cells. Here authors show that migrasomes form by a two-stage process: an initial local membrane swelling matures and is stabilized by recruited tetraspanin proteins.

By integrating healthcare and exome-sequencing data from parent–offspring trios of patients with developmental disorders, 28 genes that had not previously been associated with developmental disorders were identified.

A structure of the prostaglandin E₂ receptor 3 (EP3) bound to the agonist misoprostol shows a completely enclosed binding pocket with a structured water molecule that coordinates misoprostol's ring structure and explains the receptor's selectivity.

Although plant functional trait combinations reflect ecological trade-offs at the species level, little is known about how this translates to whole communities. Here, the authors show that global trait composition is captured by two main dimensions that are only weakly related to macro-environmental drivers.

Engineered crystal architectures from DNA have become a foundational goal for nanotechnological precise arrangement. Here, the authors systematically investigate the structures of 36 immobile Holliday junction sequences and identify the features allowing the crystallisation of most of them, while 6 are considered fatal.

A clear understanding of the phase behaviour of lithium-ion electrode materials is essential for the development of the field. Here, the authors report a combined X-ray diffraction–electrochemical impedance spectroscopy method to detect solid solution reactions of LiFePO₄.

Imputation uses genotype information from SNP arrays to infer the genotypes of missing markers. Here, the authors show that an imputation reference panel derived from whole-genome sequencing of 3,781 samples from the UK10K project improves the imputation accuracy and coverage of low frequency variants compared to existing methods.

Relatives of patients with amyotrophic lateral sclerosis have an unexpectedly high incidence of schizophrenia. Here, the authors show a genetic link between the two conditions, suggesting shared neurobiological mechanisms.

1000 Genomes imputation can increase the power of genome-wide association studies to detect genetic variants associated with human traits and diseases. Here, the authors develop a method to integrate and analyse low-coverage sequence data and SNP array data, and show that it improves imputation performance.

Pluripotent stem cells can be generated from the somatic cells of humans and are a useful model to study disease. Here, pluripotent stem cells are made from a patient with familial Parkinson's disease, and the resulting neurons exhibit elevated levels of α-synuclein, recapitulating the molecular features of the patient's disease.

Increasing nitrogen use efficiency is the most effective strategy to reduce undernourishment while respecting the nitrogen boundaries in regions such as China and India. This supply-side effort plays a more important role in alleviating food insecurity than demand-side efforts such as diet shifts and reduced waste when introducing regional nitrogen targets.

Multi-year field experiments across six continents suggest that insects have an important contribution to decomposition and carbon release from forest deadwood.

An autonomous DNA-origami nanomachine powered by the chemical energy of DNA-templated RNA-transcription-consuming nucleoside triphosphates as fuel performs rhythmic pulsations is demonstrated. In combination with a passive follower, the nanomachine acts as a mechanical driver with molecular precision.

Single-cell-based imaging and sequencing approaches are used to characterize organoid development and the intestinal regeneration process, which is driven by transient activation of YAP1.

The 33 minute change in the orbital period of Dimorphos after the DART kinetic impact suggests that ejecta contributed a substantial amount of momentum to the asteroid compared with the DART spacecraft alone.

Functional trait data could guide predictions of species responses to environmental change. Here, the authors show that winner and loser shrub species in the warming tundra biome overlap in trait space and may therefore be difficult to predict based on commonly measured traits.

Resistance to first line treatment is a major hurdle in cancer treatment, that can be overcome with drug combinations. Here, the authors provide a large drug combination screen across cancer cell lines to benchmark crowdsourced methods and to computationally predict drug synergies.

Analysis of ancient genomic data of 51 humans from Eurasia dating from 45,000 to 7,000 years ago provides insight into the population history of pre-Neolithic Europe and support for recurring migration and population turnover in Europe during this period.

In organic photovoltaics, the best-performing devices are often based on fullerene derivatives as the electron acceptor counterpart. Here, the authors present new molecular electron acceptors with a helical structure and achieve 8.3% power conversion efficiency.

Serial crystallography was developed for protein crystal data collection with X-ray free-electron lasers. Here the authors present several examples which show that serial crystallography using high-viscosity injectors can also be routinely employed for room-temperature data collection at synchrotrons.

Genome-wide data from 400 individuals indicate that the initial spread of the Beaker archaeological complex between Iberia and central Europe was propelled by cultural diffusion, but that its spread into Britain involved a large-scale migration that permanently replaced about ninety per cent of the ancestry in the previously resident population.

Schizophrenia is a highly heritable genetic disorder, however, identification of specific genetic risk variants has proven difficult because of its complex polygenic nature—a large multi-stage genome-wide association study identifies 128 independent associations in over 100 loci (83 of which are new); key findings include identification of genes involved in glutamergic neurotransmission and support for a link between the immune system and schizophrenia.

A computational approach to generate reference-free protein families from the sequence space in metagenomes reveals an enormously diverse functional space.

Meeting China’s growing demand for food, especially for livestock products, will have huge environmental impacts domestically and globally. This study finds large increases in land, water, fertilizer and greenhouse gas emissions that vary based on openness of trade.

Grasslands, and the livestock that live there, are dynamic sources and sinks of greenhouse gases, but what controls these fluxes remains poorly characterized. Here the authors show that on the global level, grasslands are climate neutral owing to the cancelling effects of managed vs. natural systems.