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De novo and inherited dominant variants in genes encoding U4 and U6 small nuclear RNAs are identified in individuals with retinitis pigmentosa. The variants cluster at nucleotide positions distinct from those implicated in neurodevelopmental disorders.

Organic additives frequently shape crystallisation in natural and industrial settings, yet their precise influence on nucleation remains poorly understood. Here, Baken et al. investigate how additives affect the crystallization of the industrially relevant minerals portlandite and gypsum. Using controlled titration coupled with in situ synchrotron monitoring, the team demonstrates that both minerals form via intermediate steps: portlandite gradually becomes more ordered as it develops, while gypsum switches abruptly from a disordered to an ordered state. The study reveals that additives influence these pathways prior to nucleation by altering the nature of prenucleation clusters. How strongly an additive interacts with these clusters depends on its chemical state, which is controlled by the pH conditions specific to each mineral. These findings offer a starting point for creating an industrial “toolbox” to help select more effective additives, and they advance our understanding of biomineralisation processes.

A multidimensional proteomics analysis of the interactions between around 2,000 nuclear proteins and over 80 modified dinucleosomes representing promoter, enhancer and heterochromatin states provides insights into how chromatin states are decoded by chromatin readers.

Polygenic scores for body mass index and obesity constructed using data from 5 million people with different ancestries were associated with distinct weight gain trajectories from early childhood to adulthood.

Quantitative mass spectrometry enables the proteome-wide assessment of biomolecular binding affinities. While previous approaches mainly focused on protein–small molecule interactions, the authors here present a method to probe protein–DNA and protein–nucleosome binding affinities at proteome scale.

A global network of researchers was formed to investigate the role of human genetics in SARS-CoV-2 infection and COVID-19 severity; this paper reports 13 genome-wide significant loci and potentially actionable mechanisms in response to infection.

A large genome-wide association study of more than 5 million individuals reveals that 12,111 single-nucleotide polymorphisms account for nearly all the heritability of height attributable to common genetic variants.

Cuprate superconductors have found limited application for high-field magnets because of difficulties related to grain boundaries. Now, this issue is partially overcome and round wires suitable for magnetic coils are fabricated from Bi₂Sr₂CaCu₂O_8−x.

Mammalian genomes are scattered with repetitive sequences, but their biology remains largely elusive. Here, the authors show that transcription can initiate from short tandem repetitive sequences, and that genetic variants linked to human diseases are preferentially found at repeats with high transcription initiation level.

An investigation using various methods reports an association between adeno-associated virus 2 and paediatric hepatitis of unknown aetiology.

Meta-analyses in up to 1.3 million individuals identify 87 rare-variant associations with blood pressure traits. On average, rare variants exhibit effects ~8 times larger than the mean effects of common variants and implicate candidate causal genes at associated regions.

Kevin Brown and colleagues functionally characterize a melanoma risk locus encompassing PARP1, correlating the risk genotype to PARP1 gene expression levels in melanoma cells. They identify an intronic gene-regulatory variant in PARP1 and find that PARP1 can promote cell proliferation and rescue oncogene-induced senescence, likely through MITF.

To discover new histone marks and interactions, researchers turn to the sophisticated instruments of proteomics.

Reduced glomerular filtration rate (eGFR) is a hallmark of chronic kidney disease. Here, Pattaro et al. conduct a meta-analysis to discover several new loci associated with variation in eGFR and find that genes associated with eGFR loci often encode proteins potentially related to kidney development.

The state of charge, mechanical strain and temperature within lithium-ion 18650 cells operated at high rates are characterized and operando temperature rise is observed to be due to heat accumulation, strongly influenced by cell design and charging protocol.

Detailed mapping of the distribution of water and semiheavy water in the coma of Halley-type comet 12P implies a D/H ratio that is consistent with that of Earth’s water, indicating a common heritage.

Sintering is the basis for the production of many metallic and composite materials. Gruppet al. use a new technique to measure the rotation of microscopic copper particles during sintering and find intrinsic rotations to be the dominant movement.

Christopher Newton-Cheh and colleagues report a genome-wide association study for blood pressure traits as part of the Global BPgen consortium. They report eight loci with replicated association to systolic and/or diastolic blood pressure, with each also showing association to hypertension.

The transcription-coupled repair pathway removes transcription-blocking DNA lesions, but how transcription is restored following DNA repair is not clear. Here the authors reveal that the PAF1 complex, while dispensable for the repair process, restores transcription after DNA damage.

Data from over 700,000 individuals reveal the identity of 83 sequence variants that affect human height, implicating new candidate genes and pathways as being involved in growth.

Dynamic chemical and structural heterogeneities within electrodes are known to lead to battery degradation and failure. Here, the authors show that X-ray diffraction computed tomography can be used to spatially quantify the dynamic crystallographic states of electrodes as they operate and degrade.

Exome-wide analysis identifies rare and low-frequency coding variants associated with body mass index. Gene-based meta-analysis and functional studies implicate 13 genes, eight of which are novel, and neuronal pathways as factors in human obesity.

Determining the nanostructure within complex composites may lead to greater understanding of their properties. Here, the authors demonstrate the application of X-ray atomic pair distribution function computed tomography to resolve the physicochemical properties of palladium nanoparticles on an alumina catalyst.

Two high-quality genomes of petunia wild parents reveal two rounds of hexaploidization in the evolution of Petunia lineage and provide insights into the diversity of floral patterns and pollination systems — enhancing the model value of this genus.

Mixing granular materials such as sand with a liquid leads to stiffening, but the mechanical properties are surprisingly independent of the amount of liquid. This phenomenon is shown to result from the particular organization of the liquid into open structures within the granular pile.

A case–control study investigating the causes of recent cases of acute hepatitis of unknown aetiology in 32 children identifies an association between adeno-associated virus infection and host genetics in disease susceptibility.

The complex life cycle ofMyxococcus xanthusincludes predation, swarming, fruiting-body formation and sporulation. The large genome of this bacterium contains eight chemotaxis gene clusters that define eight two-component chemosensory pathways, most of which have dedicated functions in motility or development.

Miniaturized ceramic fuel cells are attractive for portable devices, but performance should be optimized. Here the authors report a micro-monolithic ceramic cell design for a tubular solid oxide fuel cell containing a multi-channel anode support with enhanced power density and stable operation.

A study from the FANTOM consortium using single-molecule cDNA sequencing of transcription start sites and their usage in human and mouse primary cells, cell lines and tissues reveals insights into the specificity and diversity of transcription patterns across different mammalian cell types.

The FANTOM4 study identified transcriptional start sites active during proliferation arrest and differentiation of the human monocytic cell line THP-1. Systematic knockdown of 52 transcription factors provide support for their model in which a complex transcriptional network regulates the differentiation process.

Functional out-of-equilibrium networks are typical of living cells. Here the authors report the construction of a sustained ATP production system in vesicles with controlled energy dissipation and physicochemical homeostasis.

Analysis of the gut microbial gene composition in obese and non-obese individuals shows marked differences in bacterial richness between the two groups, with individuals with low richness exhibiting increased adiposity, insulin resistance, dyslipidaemia and inflammation; only a few bacterial marker species are needed to distinguish between individuals with high and low bacterial richness, providing potential for future diagnostic tools.

Producing ultrastable metallic glasses has always been associated with substrates heated close to the glass transition temperature. Here, the authors show that reducing the deposition rate of the metallic glass on a cold substrate produces ultrastable metallic glasses with remarkably improved stability.

Multi-scale chemical imaging holds the potential to revolutionize our understanding of the relationships between structure and functionality in complex catalytic materials. Here the authors report the results from the first 5D tomographic diffraction imaging experiment of a complex Ni – Pd/ CeO₂ – ZrO₂/ Al₂O₃ catalyst used for methane reforming.

SMYD3 is a methyltransferase overexpressed in several human tumours; here methylation of the MAP3K2 kinase by SMYD3 is shown to be critical for Ras-induced tumour development in mouse models and human tumour cells, showing an unexpected role for methylation in a kinase signalling pathway and revealing a candidate therapeutic target.

Sequencing the microbial species present in complex metagenomic samples is made easier with a method that groups genes by co-abundance.

The IDG-DREAM Challenge carried out crowdsourced benchmarking of predictive algorithms for kinase inhibitor activities on unpublished data. This study provides a resource to compare emerging algorithms and prioritize new kinase activities to accelerate drug discovery and repurposing efforts.

Small non-coding RNAs have been implicated in the regulation of many processes; now a novel class of these RNAs is identified as having a role in the DNA-damage response.

Proteomic and genomic analysis of Polycomb group complexes in embryonic stem cells and neural progenitor cells identifies new PRC1 and PRC2 interaction partners and targets during neural lineage commitment.

Glass aging is one of unsolved problems during glass processing and annealing, partly due to the lack of the mechanistic understanding on microscales. Here, the authors show how local stresses and their evolution affect structural relaxation at an atomic level in a metallic glass system.

The genomics era has provided the opportunity for detailed investigations into the effects of the gut microbiota on the host mucosa. Bron, van Baarlen and Kleerebezem describe the features of probiotic bacteria that affect the mucosal immune system, and discuss the effect of the molecular characteristics of the host's mucosa on the response to these bacteria.