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Mutations in mitochondrially-encoded tRNA genes can lead to mitochondrial disorders. Here the authors use next generation RNA sequencing to reveal the role of a N1 -methyladenosine modification in tRNALys MERR patients for translation elongation and the stability of selected nascent chains.

This paper shows that compulsive-like grooming in Sapap3-knockout mice can be reduced by closed-loop optogenetic stimulation of striatal interneurons based on grooming onset prediction, suggesting that adaptive stimulation may have therapeutic potential in obsessive–compulsive disorder.

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.

Bosonic qubits can be engineered to feature intrinsic protection against certain kinds of errors, which makes quantum error correction across many bosonic qubits possible with less overhead.

The authors summarize the data produced by phase III of the Encyclopedia of DNA Elements (ENCODE) project, a resource for better understanding of the human and mouse genomes.

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.

Wood density is an important plant trait. Data from 1.1 million forest inventory plots and 10,703 tree species show a latitudinal gradient in wood density, with temperature and soil moisture explaining variation at the global scale and disturbance also having a role at the local level.

The correction of genetic defects in utero could allow for improved outcomes of gene therapy. Here, the authors demonstrate safe delivery of nanoparticles to fetal mouse tissues, and show that nanoparticles containing peptide nucleic acids to edit the beta-globin gene are effective in a mouse model of beta-thalassemia.

Inhibition of nucleus accumbens neurons is crucial for reward consumption. Vachez, Tooley et al. characterize arkypallidal neurons in the ventral pallidum that inhibit accumbal neurons to sustain reward consumption in a value-dependent manner.

Complex networks are relevant to wide range of areas, from biology to social sciences and economics, however the aspect that networks can move through space has not been elaborated. The authors propose a concept of traveling networks that can dynamically restructure themselves in space and perform search tasks.

The epitranscriptome is fitness-relevant across Domains. Here, the authors map m⁵C in the model hyperthermophile, Thermococcus kodakarensis. The abundance and complexity of the m⁵C epitranscriptome in T. kodakarensis argues that m⁵C supports life in the extremes.

Analysis of ground-sourced and satellite-derived models reveals a global forest carbon potential of 226 Gt outside agricultural and urban lands, with a difference of only 12% across these modelling approaches.

Cotranscriptional RNA folding pathways often involve the sequential formation of folding intermediates as RNA emerges from an RNA polymerase. Here the authors develop an RNA chemical probing method that directly measures the cotranscriptional rearrangement of nascent RNA structures.

Using a cryogenic 300-mm wafer prober, a new approach for the testing of hundreds of industry-manufactured spin qubit devices at 1.6 K provides high-volume data on performance, allowing optimization of the complementary metal–oxide–semiconductor (CMOS)-compatible fabrication process.

Down syndrome causes extensive Alzheimer’s disease pathology in all individuals and has been instrumental in development of the amyloid hypothesis in AD. Here, the authors use proteomics on Down syndrome spinal fluid and brain tissues to illustrate the common and unique changes in DSAD compared to other genetic forms of AD and the more common late-onset form of the disease.

Lau and colleagues show that the dietary addition of the sugar l-fucose enhances immunotherapy response in melanoma models. This is mediated via the fucosylation and cell surface enrichment of HLA-DRB1 and induction of anti-tumor immunity.

Analysis of 97,691 high-coverage human blood DNA-derived whole-genome sequences enabled simultaneous identification of germline and somatic mutations that predispose individuals to clonal expansion of haematopoietic stem cells, indicating that both inherited and acquired mutations are linked to age-related cancers and coronary heart disease.

Synaptotagmin 1 is involved in dopamine release. Here the authors investigate the effect of loss of Syt1 in midbrain dopaminergic neurons in mice, and find that unconditioned motor behaviour and motivation for food, are intact.

A combination of genetic strategies and tools is used to define and fate-map different subtypes of glutamatergic pyramidal neurons according to their developmental and molecular programs, providing insight into the assembly of cortical processing networks.

The authors characterize the cotranscriptional folding of the Clostridium beijerinckii pfl ZTP riboswitch in response to its ligand ZMP, and reveal that an internal RNA strand displacement and riboswitch sequence play important roles in the process.

During spliceosome assembly, U6 snRNA is recycled from U2 snRNA by the protein Prp24 and is paired with U4 snRNA to form a splicing-competent complex. A structure of yeast Prp24 bound to the conserved core of U6 RNA reveals a new arrangement of RNA-protein contacts that mediates these early events leading to pre-mRNA splicing.

Non-coding RNA function is poorly understood, partly due to the challenge of determining RNA secondary (2D) structure. Here, the authors present a framework for the reproducible prediction and visualization of the 2D structure of a wide array of RNAs, which enables linking RNA sequence to function.

Tech giants moving into health may widen inequalities and harm research, unless people can access and share their data, warn John T. Wilbanks and Eric J. Topol.

GATA-binding protein 4 (GATA4) is reported to control cell proliferation in cancers. Here the authors show that GATA4’s pro-inflammatory secretome promotes the recruitment of immune cells such as CD8 + T cells to suppress tumour initiation and growth in a non-cell autonomous manner.

Saccadic eye movements sample the visual world, but the retinal motion they entail goes unnoticed. This study shows that lawful saccade kinematics predict motion visibility, omitting saccade-like motion while preserving sensitivity to high speed.

The wide use of microfluidics for biological analysis demands scalable preparation methods, yet in practice it is very challenging. Here, Wanget al. show a wafer-scale fabrication of nanofluidic chips with single-digit nanometre dimension, which is compatible with standard semiconductor processing.

Complete sequences of chromosomes telomere-to-telomere from chimpanzee, bonobo, gorilla, Bornean orangutan, Sumatran orangutan and siamang provide a comprehensive and valuable resource for future evolutionary comparisons.

An emerging therapeutic strategy is to suppress nonsense mutations with engineered suppressor tRNAs. Here, the authors show that the mRNA translation velocity is a key parameter determining the efficacy of suppressor tRNAs.

A device architecture based on indium arsenide–aluminium heterostructures with a gate-defined superconducting nanowire allows single-shot interferometric measurement of fermion parity and demonstrates an assignment error probability of 1%.

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.

In this immunological ancillary study of the PREVAC trial, the authors show that approved Ebola virus vaccines induce memory T-cell responses that persist during the five year follow-up after initial vaccination.

DNA double helical structures are supramolecular assemblies that are typically held together by classical Watson–Crick pairing. Now, nucleotide chelation of silver ions supports an extended silver–DNA hybrid duplex featuring an uninterrupted silver array.

The authors find that calcium signaling triggers liquid–liquid phase separation of CaMKII. This reorganizes the postsynaptic structure, acting as a potential mechanism to increase the efficacy of synaptic transmission during memory formation.

Changes to the secondary structure of the guide RNA enable substantial increases in specificity of Cas9 and Cas12 variants

Controlling immune cell activation would improve the efficiency of cell-based immunotherapies and reduce its associated risks. Here biodegradable particles are functionalized with DNA scaffolds for precise conjugation of a range of immunomodulating agents and applied ex vivo and in vivo for engineered immune cell modulation.

Neutrophilic inflammation is a hallmark of many monogenic autoinflammatory diseases. Here the authors report a case series of three unrelated boys with perinatal-onset of neutrophilic cutaneous small vessel vasculitis and systemic inflammation, and identify de novo truncating and missense variants in the Src-family tyrosine kinase LYN.

Whole-genome sequencing, transcriptome-wide association and fine-mapping analyses in over 7,000 individuals with critical COVID-19 are used to identify 16 independent variants that are associated with severe illness in COVID-19.

Afshar, Dammer et al. identify plasma proteins associated with Alzheimer’s disease brain pathologies and find that many plasma proteins related to cognitive function are not associated with these pathologies.

Analyses of genome and exome sequencing data identify rare coding and structural variants associated with atrial fibrillation and highlight genetic links between atrial fibrillation and cardiomyopathies.

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