Search

Previous studies identified an association between the 2q35 locus and breast cancer. Here, the authors show that a SNP at 2q35, rs4442975, is associated with oestrogen receptor positive disease and suggest that this effect is mediated through the downregulation of a known breast cancer gene, IGFBP5.

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.

Magneto-fluorescent nanoparticles hold promise for bioimaging applications, but synthesizing uniform particles with tunable sizes remains challenging. Chen et al. propose an approach for co-assembling magnetic particles with fluorescent quantum dots, leading to well-defined core-shell structures.

Liquid biopsies enable minimally invasive applications for diagnosis and treatment monitoring. Here the authors analyse fragmentation patterns of circulating tumour DNA on multiple levels and develop a bioinformatic tool, LIQUORICE, to accurately detect and classify paediatric cancers with low mutational burden.

The enzyme autotaxin (ATX) produces the lipid mediator LPA to stimulate cell migration and proliferation. The crystal structures of rat ATX, in its apo and inhibitor-bound forms, along with functional work, offer insight into substrate specificity and show that ATX interacts with integrins through one of its SMB domains.

Previous studies have shown that both rare pathogenic mutations and common genetic variants contribute to the familial risk of developing colorectal cancer. Here, the authors carry out a two-stage genome-wide association study and identify six new loci associated with colorectal cancer.

Efficient statistical emulation of melting land ice under various climate scenarios to 2100 indicates a contribution from melting land ice to sea level increase of at least 13 centimetres sea level equivalent.

Here, using metagenomic profiling in 180 individuals from the Democratic Republic of the Congo, the authors find associations between the gut microbiome and konzo, a neurodegenerative disease that mostly affects children and is caused by the consumption improperly processed cassava.

A directly dated Homo sapiens phalanx from the Nefud desert reveals human presence in the Arabian Peninsula before 85,000 years ago. This represents the earliest date for H. sapiens outside Africa and the Levant.

Several COVID-19 vaccines have received emergency approval, but durability of protection is unclear. Here, the authors describe correlates of protection (CoP) for the Ad26.COV2.S vaccine in rhesus macaques and report that CoP predict the protection observed 6 months post vaccination.

The mechanistic target of rapamycin complex 1 (mTORC1) integrates nutrient and hormonal signals to control metabolism. Here the authors investigate the effects of constitutive nutrient signaling through genetic activation of RagA in adult mice and show that constitutive nutrient signaling regulates the response to feeding-fasting cycles and does not drive liver cancer.

Dondelinger et al. and Menon et al. show that MAPKAP kinase-2 (MK2) phosphorylates RIPK1 to regulate TNF-mediated cell death as well as RIPK1 signalling in inflammation and bacterial infection.

The expression of reprogramming factors can induce replication stress in induced pluripotent stem cells. In this study, to reduce such genomic instability, Ruiz et al.increase CHK1 kinase levels and nucleoside supplementation during reprogramming.

An analysis of cancer mortality data for zoo mammals highlights marked differences across mammalian orders and an influence of diet, and shows that mortality risk is largely independent of body mass and life expectancy across species.

In a lupus environment, basophils accumulate in secondary lymphoid organs where they affect pathogenesis by stimulating autoantibody production. Here the authors show this accumulation is driven by PGD2-induced CXCR4 surface expression and trafficking of basophils.

Marine snow is a major route through which photosynthetically fixed carbon is transported to the deep ocean, but the factors affecting flux are largely unknown. Here the authors use high frequency imaging of marine snow particles collected during phytoplankton blooms to categorize and quantify transport.

Familial cortical myoclonic tremor with epilepsy (FAME) is a slowly progressing cortical tremor mapping to various genomic loci, including intronic expansions in SAMD12 for FAME1. Here, Florian et al. describe mixed intronic TTTTA/TTTCA expansions of various lengths in the first intron of MARCH6 as a cause of FAME3.

The authors define a specific cortical subregion of the somatosensory cortex as a critical region of dysfunction that is causal to the emergence of abnormal social and repetitive behaviours in mice exposed to maternal inflammation.

Traumatic brain injury is associated with changes to the metabolome. Here the authors show that acute traumatic brain injury has distinctive serum metabolic patterns which may suggest protective changes of systemic lipid metabolism aiming to maintain lipid homeostasis in the brain.

Mammalian genomes encode tens of thousands of ncRNAs that have important roles in regulation of gene expression and chromatin organization. Here, the authors present RADICLseq to map RNA-chromatin interactions in intact nuclei to shed light on these fine-tuned processes.

Mutations in LSM11 and RNU7-1, which encode components of the replication-dependent histone pre-mRNA–processing complex, cause an autoinflammatory syndrome due to enhanced interferon signaling mediated by the cGAS–STING pathway, showing an essential role for nuclear histones in suppressing the immunogenicity of self-DNA.

Ionization time delays are of interest in understanding the photoionization mechanism in atoms and molecules in ultra-short time scales. Here the authors investigate the angular dependence of photoionization time delays in the presence of an autoionizing resonance in argon atom using RABBITT technique.

Wind tunnel experiments and numerical modelling reveal the existence of two distinct ripples on Earth: centimetre-scale impact ripples and decimetre-scale hydrodynamic ripples, akin to those in water and on Mars.

Dated palaeolake sequences show that there were at least five Pleistocene hominin expansions into the Arabian interior, coinciding with windows of reduced aridity between 400 and 55 thousand years ago.

Most genetic association studies have been done on single nucleotide polymorphisms and small indels, while other types of variants have been less studied. Here, the authors use whole genome sequencing in a diverse population to identify and provide experimental evidence for associations between structural variants and blood-cell traits.

Ocean currents play a crucial role in the distribution of marine coastal species. Here the nuclear and chloroplast genomes of this eelgrass (Zostera marina L.) is used to trace its colonization history from its origin in the Northwest Pacific.

Lean body mass is a highly heritable trait and is associated with various health conditions. Here, Kiel and colleagues perform a meta-analysis of genome-wide association studies for whole body lean body mass and find five novel genetic loci to be significantly associated.

Vibrio cholerae cells are taken up by protozoa and expelled in food vacuoles, enhancing bacterial environmental survival and infectiousness in mice.

Lung samples collected soon after death from COVID-19 are used to provide a single-cell atlas of SARS-CoV-2 infection and the ensuing molecular changes.

Molecular heterogeneity of acute myeloid leukaemia (AML) across patients is a major challenge for prognosis and therapy. Here, the authors show that NPM1 mutated AML is a heterogeneous class, consisting of two subtypes which exhibit distinct molecular characteristics, differentiation state, patient survival and drug response.

In this study, the authors develop a comprehensive taxonomy of brain-wide SPNs, identifying several novel subsets via their transcriptional signatures.

Controlling the mix of electron-donating and electron-accepting organic semiconductors is crucial for improving solar cell efficiency. Here, the authors show how the addition of small amounts of co-solvents prevents the formation of fullerene-rich domains that reduce the performance of these devices

Neutrophils migrate into tissues as innate immune responders. Nourshargh and colleagues demonstrate that neutrophils can migrate in the reverse direction in vivo under inflammatory conditions and may contribute to the dissemination of systemic inflammation.

The large virus family,Paramyxoviridae, includes several human and livestock viruses. This study, testing 119 bat and rodent species distributed globally, identifies novel putative paramyxovirus species, providing data with potential uses in predictions of the emergence of novel paramyxoviruses in humans and livestock.

C₄ photosynthesis has evolved independently in over 60 plant lineages. This study shows expression of key C₄ enzymes being controlled by light and the chloroplast in C₃ leaves, potentially facilitating repeated evolution of C₄ traits.

Dust storms on Mars drive water escape to space. Here, the authors show the impact Martian dust storms have on the abundance of atmospheric hydrogen and oxygen, and how this helps to overall oxidize the Martian atmosphere.

Manipulation of topology of the electronic structure is highly desirable for practical applications of topological materials. Here the authors demonstrate tuning and annihilation of Weyl nodes in momentum space by means of the Zeeman effect in a strongly correlated topological semimetal Ce₃Bi₄Pd₃.

Analysis of T cells isolated from patients with and without type 1 diabetes reveals reactivity to a range of native as well as post-translationally modified self-antigens only in individuals with T1D.

Bicistronic CAR T cells targeting CD19 and CD22 exhibit clinical activity and low toxicity in pediatric and young adult patients with B cell acute lymphoblastic leukemia, with relapses associated with limited CAR T cell persistence.

Subglacial landforms, formed by glacial processes operating over long timescales, influence ice dynamics. Here, the authors show how mega-scale landforms at an Antarctic ice stream grounding zone modulate basal water flow, causing extensive channels in the ice shelf downstream that may impact its structure.

Genomic and transcriptomic analysis of 470 mostly high-risk neuroblastomas collected from 283 patients delineates subtype-specific evolutionary patterns and progression-related convergent evolution and describes the clonal dynamics of metastases.

Interlayer transport can be made to occur slower or faster than intralayer scattering in van der Waals heterostructures, allowing the thermalization pathways for optically excited carriers to be tuned.

Analyses of single-cell whole-genome sequencing data show that somatic mutations are increased in the brain of individuals with Alzheimer’s disease compared to neurotypical individuals, with a pattern of genomic damage distinct from that of normal ageing.

SH2 domains are challenging to target using small molecules. Here, the authors develop phosphotyrosine-based covalent ligands of the E3 ligase SOCS2 using structure-based design. A pro-drug approach yields cell active inhibitors that block SOCS2 substrate recruitment.

Hosios et al. demonstrate that inhibition of mechanistic target of rapamycin complex 1 in cells and in tumors in mice leads to a lysosome-dependent but autophagy-independent shift in membrane lipid metabolism, resulting in increased intracellular triglyceride pools.