Search

In this study, the authors investigate thermal alteration of organic biomarkers to detect paleo earthquakes in the Japan Trench. The study shows that large earthquakes like the 2011 Tohoku-Oki earthquake can slip through different types of sediment rather than being restricted to the weakest layers.

Neutralizing antibody responses of patients infected with SARS-CoV-2 peak at 3–4 weeks post onset of symptoms, then decline to low levels over the course of 3 months in some individuals.

The RNase activity of Inositol-Requiring Enzyme 1 (IRE1) can be allosterically regulated by ATP-competitive inhibitors of the IRE1 kinase domain. Here, the authors identify ATP-competitive IRE1 RNase activators with improved selectivity and cellular activity, and elucidate their mechanism of action.

In a changing world, the ability to predict the impact of environmental change on ecological communities is essential. Here, the authors show that by separating species abundances from interaction preferences, they can predict the effects of habitat modification on the structure of weighted species interaction networks, even with limited data.

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.

Common polygenic variation at chromosome 16p and rare recurrent deletions of 16p11.2 influencing autism risk are associated with reduced expression of genes throughout the 16p region, suggesting functional convergence of rare and common variant effects.

A20, encoded by TNFAIP3, is a negative-feedback inhibitor of NF-κB. Grey and colleagues identify natural human variants of TNFAIP3, which lower A20 activity and increase autoinflammatory responses. These alleles were inherited by descendants of Denisovans who crossed the Wallace Line to inhabit Oceania.

Adult height has a strong genetic component and is highly heritable. Here the authors whole-genome sequence 8,453 Icelanders and find novel parent-of-origin derived associations in IGF2-H19 and DLK1-MEG3.

In this study, the authors use a combination of genetic methodologies to investigate the genetic associations between attention-deficit/hyperactivity disorder, cannabis use disorder and cannabis use.

Louise Wain, Ian Hall, Martin Tobin and colleagues report genome-wide association analyses of lung function, identifying 43 new signals associated with one or more lung function traits. A genetic risk score derived from these results was significantly associated with risk for chronic obstructive pulmonary disease in independent populations.

Using samples from the Danish Neonatal Screening Biobank, children with ASD and children with ADHD were found to have similar, significantly increased rates of rare protein-truncating variants in evolutionarily constrained genes.

Little is known about the biology of back pain, a leading cause of disability. Here the authors report 30 new back pain loci, implicating genes involved in cartilage/bone biology, as well as neurological and inflammatory processes.

Gene discovery and polygenic predictions from a genome-wide association study of educational attainment in 1.1 million individuals.

Magnetically confined neutral antihydrogen atoms released in a gravity field were found to fall towards Earth like ordinary matter, in accordance with Einstein’s general theory of relativity.

The MAGIC investigators report results of a large genome-wide association study meta-analysis to identify common variants influencing fasting glucose homeostasis. They further show that several of the newly discovered loci influencing glycemic traits are also associated with risk of type 2 diabetes.

The fast radio burst FRB 20200120E is shown to originate from a globular cluster in the galaxy M81, and may be a collapsed white dwarf or a merged compact binary star system.

CellAssign uses a probabilistic model to assign single cells to a given cell type defined by known marker genes, enabling automated annotation of cell types present in a tumor microenvironment.

The 26S proteasome is a multisubunit complex that selectively degrades ubiquitin conjugated proteins. Two studies (this Article and the Letter Dikic doi:10.1038/nature06924) show that a known component of the proteasome, Rpn13, functions as a novel ubiquitin binding receptor, and structural studies reveal a novel mode of ubiquitin recognition. Rpn13 is also a receptor for a deubiquitinating enzyme, suggesting a linkage between ubiquitin chain recognition and disassembly.

Novel measurements of clay hydroxyl isotopic composition show an enhanced hydrological cycle during a period of intense global warming at the Paleocene-Eocene boundary 55.9 million years ago.

Patrick Sullivan and colleagues report a multi-stage genome-wide association study for schizophrenia in a Swedish population. They identify 13 loci newly associated with schizophrenia.

In oxygen-redox intercalation cathodes, voltage hysteresis can be avoided by forming cathode materials with a ‘ribbon’ superstructure in the transition metal layers that suppresses transition metal migration.

Analysis of hematopoietic stem cells from six individuals with sickle cell disease who had been treated with autologous gene therapy revealed positive selective pressure on cells containing mutations in genes associated with clonal hematopoiesis and hematological malignancies.

Machine learning algorithms can be trained to estimate age from brain structural MRI. Here, the authors introduce a new deep-learning-based age prediction approach, and then carry out a GWAS of the difference between predicted and chronological age, revealing two associated variants.

Using a sample of more than 1 million individuals, Hatoum et al. identify genomic loci associated with general and substance-specific addiction risk.

Function-altering variants of immune-related genes cause rare autoimmune syndromes, whereas their contribution to common autoimmune diseases remains uncharacterized. Here the authors show that rare variants of lupus-associated genes are present in the majority of lupus patients and healthy controls, but only the variants found in lupus patients alter gene function.

Rees et al. show that de novo mutations in the gene SLC6A1, and more broadly across evolutionary constrained genes and genes implicated in neurodevelopmental disorders, increase the risk for developing schizophrenia.

Evidence of protective and homeostatic roles for IgE is relatively limited. Strid and colleagues demonstrate that γδ T cells induce switching to IgE that provides protection against experimentally induced epithelial cancer.

The CNV analysis group of the Psychiatric Genomic Consortium analyzes a large schizophrenia cohort to examine genomic copy number variants (CNVs) and disease risk. They find an enrichment of CNV burden in cases versus controls and identify 8 genome-wide significant loci as well as novel suggestive loci conferring either risk or protection to schizophrenia.

Miscarriage affects around 15% of clinically confirmed pregnancies. Here the authors carry out a large genome-wide association study for sporadic and multiple consecutive miscarriage and suggest links with placental biology.

Phenotypic variation and diseases are influenced by factors such as genetic variants and gene expression. Here, Barbeira et al. develop S-PrediXcan to compute PrediXcan results using summary data, and investigate the effects of gene expression variation on human phenotypes in 44 GTEx tissues and >100 phenotypes.

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.

CARD9 and CARD11 propagate signaling by nucleating Bcl10 polymerization in immune cells and are both held in an autoinhibited state prior to activation. Here, the authors combine structural, biochemical, and cell-based approaches to reveal the structural basis for CARD9/11 autoinhibition and show that the two proteins are activated through similar but distinct mechanisms.

Developing a predictive understanding of bacterial community responses to environmental change is an ongoing challenge. Here, Isobe et al. reanalyze data on soil microbial responses to nitrogen addition across 5 continents, finding that responses are predictable based on phylogeny.

Marine seismic surveys use high-pressure air guns to explore sub-sea petroleum deposits, but little is known about their impact on marine life. Now it is shown that exposure is linked to increased zooplankton mortality at a range >1 km.

Invasive extravillous trophoblast cells are a key feature of placentation and successful pregnancy. Here, the authors identify transcription factors and regulatory mechanisms critical for extravillous trophoblast cell lineage development.