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Sequence analysis identifies gain-of-function somatic mutations in GNA11 or GNAQ in CTNNB1-mutant aldosterone-producing adenomas. Most patients with these mutations presented during puberty, pregnancy or menopause, with elevated LHCGR expression.

The International Energy Agency (IEA) is an intergovernmental organization that provides analysis, data, and policy recommendations on the energy sector. This year marks the 50th anniversary of its establishment. Laura Cozzi — IEA’s Director of Sustainability, Technology and Outlooks — talks to Nature Energy about progress so far and the challenges ahead.

Polygenic risk scores for Alzheimer’s disease derived from individuals of European ancestry can show improved performance in multiancestry settings after incorporating genome-wide association summary statistics from diverse populations.

Common bean is an evolutionary model for studying adaptive diversity in legumes. Here, the authors present the common bean pangenome based on five high-quality genomes and whole-genome reads of 339 wild and domesticated genotypes, and reveal adaptive gene loss during expansion and domestication.

A molecular mechanism is revealed through which commensal bacteria modulate intestinal epithelial barrier function.

In many AMPylating FIC proteins a structurally conserved glutamate represses AMPylation. Here, the authors show that this glutamate supports deAMPylation in Enterococcus faecalis FIC (EfFIC), and that EfFIC switches from AMPylation to deAMPylation by binding Ca²⁺ at distinct sites.

Hereditary hypertrophic cardiomyopathy (HCM) is caused by mutations in cardiomyocyte genes, such as MYBPC3. Here, the authors use virus-mediated gene therapy to correct Mycbpc3mutations in 1-day-old mice and, by administering just a single dose, prevent development of HCM over a period of 34 weeks.

The Legionella collagen-like protein (Lcl) is important for host adhesion in Legionella pneumophila. Here, the authors provide structural and biochemical data, which provides insights into a distinct “fuzzy” glycosaminoglycan binding mechanism.

Comparison of non-invasive [¹¹C]metomidate PET-CT with adrenal vein sampling for predicting biochemical remission of primary aldosteronism showed non-superiority, suggesting that the non-invasive method is suitable for the diagnosis of unilateral primary aldosteronism.

Intestinal crypt-resident Acinetobacter radioresistens secretes indole acetic acid which activates an Ahr-Wnt-β-catenin-EphB2 signalling axis to promote intestinal stem cell homeostasis and prevent tumour initiation and colorectal cancer.

A paper reports the development of a universal tool for studying cellular interactions in biological systems, and demonstrates its coupling with single-cell transcriptomics methods to provide insights into the biology of the interactions.

Caloric restriction (CR) has been demonstrated to have a role in tumour growth and therapy response but its effects on cancer stem cells are less known. Here, in Acute Promyelocytic Leukemia, the authors show that despite initial anti-tumour effect, CR drives the selection of leukaemia-initiating cells resulting in relapse which could be prevented by ablation of LSD1.

Response to immune checkpoint inhibitors (ICIs) in patients with non-small cell lung cancer (NSCLC) remains suboptimal, even for tumors with elevated tumor mutational burden. Here the authors generate a model of NSCLC with enhanced mutational load, showing that, while still resistant to ICIs, hypermutated tumors become sensitive to dendritic cell-targeted therapy.

A multi-ancestry genome-wide association study for age at menarche followed by fine mapping and downstream analysis implicates 665 pubertal timing genes, such as the G-protein-coupled receptor 83 (GPR83) and other genes expressed in the ovaries involved in the DNA damage response.

The periosteum, a tissue lining the bone surface, and the bone marrow are known to contain bone-forming cells. Here the authors show that skeletal stem cells reside in the mouse periosteum, and that periosteal cells have common embryonic origins with bone marrow stromal/stem cells (BMSCs), but are better at bone repair and long-term integration than BMSCs.

To mark the fifth anniversary of Nature Energy, past and present editors share their take on some favourite papers.

Many cities are developing plans and strategies to achieve net-zero emissions and combat climate change. However, the operational value of residual emissions remains unknown, thus challenging the integrity, transparency and impact of such pledges.

A survey across 90 societies reveals that variation and change in everyday norms are explained by a single value dimension: the priority societies place on individualizing versus binding moral concerns.

Rima Nabbout and colleagues report the identification of de novo mutations in the KCNT1 potassium channel gene in individuals with malignant migrating partial seizures of infancy, a rare epileptic encephalopathy with pharmacoresistant seizures and developmental delay. The authors show that the mutations have a gain-of-function effect on KCNT1 channel activity.

Myoglobin is a hemeprotein that reversibly binds oxygen and gives muscle its red color. Here, the authors report a genetic variant in the MB gene that associates with myoglobinopathy, an autosomal dominant progressive myopathy, and altered oxygen binding properties of the mutant protein.

The intestinal microbiota modulates host physiology and gene expression via unclear mechanisms. Here, Jabs et al. show that variations in the gut microbiota correlate with N6-methyladenosine modifications of host mRNAs in the cecum and liver of mice.

Shigella flexneri aerobic respiration depletes mucosal oxygen in the colon to promote infection.

The dynamics of actin cytoskeleton is essential to the function of living cells. Here, Foffanoet al. describe a nonequilibrium filament model to mimic the formation of cytoskeleton and pinpoint the key role played by the actin entanglement during the transition from homogeneous to bundled networks.

Analyses of virological and surveillance data in France show that a substantial proportion of symptomatic cases of COVID-19 have remained undetected and that easily accessible and efficient testing is required to control the pandemic.

Single-cell and spatial gene expression analyses of pancreatic ductal adenocarcinoma uncover a population of interleukin-1β-expressing macrophages that drive inflammatory reprogramming of neighboring tumour cells leading to disease progression and poor prognosis for patients.

Electron micrographs show that mouse and rat segmented filamentous bacterium (SFB) unicellular intracellular offspring (IO) are flagellated and that flagellation occurs before IO release from SFB filaments.

A new approach called liquid biopsy integration site sequencing enables monitoring of genetically modified cells in solid tissues of patients receiving gene therapy.

Current holographic approaches for neuronal stimulation have limitations in their temporal resolution and the number of targeted neurons. Here, the authors demonstrate an approach for ultra-fast holographic light targeting which, combined with optogenetics, enables sub-millisecond control of sequential neuronal activation and high throughput simultaneous multicell illumination.

Conversion of dermal fibroblasts into Cancer Associated Fibroblasts (CAFs) can play an important role in keratinocyte tumour development. Here the authors reveal that CSL plays a role in maintenance of telomeres and genomic integrity in both dermal fibroblasts and CAFs.

Autophagy controls cellular homeostasis and influences immune responses. Galluzzi and colleagues show that tumor cell autophagy opposes inflammatory cell death following radiation therapy and can be inhibited to enhance antitumor responses.

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.

Multiple myeloma is a cancer of the plasma cells, and the complete aetiology of the disease is still unclear. Here the authors perform an additional GWAS analysis followed by a meta-analysis with existing GWAS and replication genotyping and identify 6 novel risk loci and utilise gene expression, epigenetic profiling and in situ Hi-C data to further our understanding of MM susceptibility.

In colorectal cancer (CRC), finding loci associated with risk may give insight into disease aetiology. Here, the authors report a genome-wide association analysis in Europeans of 34,627 CRC cases and 71,379 controls, and find 31 new risk loci and 17 new risk SNPs at previously reported loci.

Magnetic molecules have long been seen to hold promise in magnetic sensing applications. In this paper, Serrano et al show that a single layer of a magnetic molecule, a terbium based complex, is sensitive to the local magnetic field variation of a superconducting surface on which it is deposited.

Low dose-radiation therapy (LDRT) can promote anti-tumor immune responses. Here the authors propose to combine the immunostimulatory properties of LDRT with the cell killing/shrinkage properties of high dose RT within the same tumor mass as a strategy to optimize RT-induced anti-tumor immune responses.

Increasing evidence point to a dysfunction of the nucleus accumbens (NAc) in eating disorders. Here, the authors provide evidence that dysregulation of the activity of NAc dopaminoceptive neuronal subpopulations is sufficient to alter energy balance.

Endoplasmic reticulum exit sites (ERES) are specialized ER subdomains that regulate the export of secreted cargo. This Roadmap explores how ERES integrate biochemical and mechanical signals to coordinate trafficking and proposes a multidisciplinary strategy to investigate their function, including in disease.

Seano, Primo and colleagues report that blood vessel branching during tumour angiogenesis is mediated by the formation of podosome rosettes that depends on VEGF-A and integrin α₆β₁.