Discover, rate, and verify biology preprints.

Morphogen-driven melanin pathway dynamics regulated by Wnt1 and apontic-like underlie larval spot coloration in Bombyx mori

This study identifies Wnt1 and apontic-like as regulators of melanin pathway dynamics, controlling spot coloration patterns in Bombyx mori larvae through dose-dependent effects on pigment composition and size.

DUSP4 knockdown in BRAF V600E mutant colorectal cancer induces cell cycle arrest and halts tumor growth

This study shows that DUSP4 knockdown causes cell cycle arrest and halts tumor growth in BRAF V600E mutant colorectal cancer models but does not lead to tumor regression.

Ribosome-associated quality control of aberrant protein production during amino acid limitation

The paper investigates how amino acid limitation affects translation by analyzing ribosome stalling and the role of RQC pathways and RNF14 in response to arginine depletion.

River network connectivity and postglacial history shape pollen- and seed-mediated gene flow across riparian populations of Myricaria germanica.

The paper investigates how river network connectivity and postglacial history influence pollen- and seed-mediated gene flow in Myricaria germanica across Central European river catchments.

Evidence that genome editing is preferable to transgenesis forenhancing animal traits

This study compares transgenesis and genome editing across 72 species and 55 genes to assess their effectiveness in enhancing animal production traits, finding gene editing more impactful overall.

Noc1 downregulation induces nucleolar stress and upregulates p53 isoforms, with a robust increase of the truncated p53E isoform in Drosophila wing discs

The paper shows that Noc1 downregulation in Drosophila causes nucleolar stress, increases p53 levels, and specifically upregulates the truncated p53E isoform, which may modulate apoptosis.

Genetic Compensation Restores Embryonic Viability in Fatty Acid Synthase Mutants

The paper identifies genetic suppressors of FASN dysfunction in C. elegans by using temperature-sensitive mutants and CRISPR/Cas9 to rescue embryonic lethality.

A comprehensive identification and annotation of mobile LINE-1 retrotransposons across human reference and personal genomes

The paper presents L1Farm, a resource for comprehensive annotation of LINE-1 retrotransposons in human reference and individual genomes at high resolution.

A predictive framework for stop-loss variants with C-terminal extensions

The paper develops TAILVAR, a machine-learning classifier to predict the functional impact of stop-loss variants by integrating multi-omics features, and shows it outperforms existing tools.

Genetic regulation of fatty acid content in adipose tissue

This study identifies genetic loci regulating fatty acid levels in adipose tissue and links them to metabolic and cardiovascular traits.

The DES-p.A120P mutation associated with biventricular arrhythmogenic cardiomyopathy has a dominant-negative effect on desmin filament assembly

The paper functionally characterizes the DES-p.A120P mutation in desmin, showing it disrupts filament assembly even when co-expressed with wild-type desmin, supporting its classification as a pathogenic variant.

The Ubiquitin-Proteasome Pathway Mediates Selective Degradation of Unloaded Argonautes in C. elegans

The paper shows that unloaded Argonaute proteins in C. elegans are degraded by the ubiquitin-proteasome system, highlighting a quality control mechanism for small RNA-loaded Argonautes.

Challenges to case-only analysis for gene-environment interaction detection using polygenic risk scores: model assumptions and biases in large biobanks

This study investigates challenges in case-only analysis using polygenic risk scores for gene-environment interaction detection, showing false positives due to model misspecification and collider bias in large biobanks.

Sarcomeric Remodelling in Human Heart Failure unraveled by single molecule long read sequencing

The paper uses single molecule long-read sequencing to analyze transcriptomes in heart failure patients and controls, identifying novel isoforms and convergent isoform changes across different cardiomyopathy types.

Virulence on Pm4 kinase-based resistance is determined by two divergent wheat powdery mildew effectors

The paper identifies AvrPm4, a mildew effector recognised by the wheat resistance gene Pm4, and shows that virulent isolates evade resistance via SvrPm4, which suppresses AvrPm4-induced cell death.

How and why to quantify pairwise pleiotropy and genotype-by-environment interactions

The paper introduces a method to quantify pleiotropy and genotype-by-environment interactions and provides an R package for implementation.

Accumulation of ph1 (zip4-5B) and ph2 (msh7-3D) mutations fails to boost homoeologous recombination in hexaploid wheat

This study shows that mutations in ZIP4-5B and MSH7-3D genes do not increase homoeologous recombination in hexaploid wheat hybrids, with ZIP4-5B alone being most effective.

PRSS56 acts as an intrinsic retinal signal driving postnatal ocular axial growth and myopia susceptibility

This study identifies PRSS56 as a retinal factor promoting ocular axial growth and links it to myopia susceptibility through genetic and functional analyses.

Bro1-Mediated Trafficking Couples TOR Signalling to Cellular Metabolism and Longevity

This study identifies Bro1 as a central integrator linking TOR signalling to metabolic adaptation and longevity in fission yeast.

Tracing the evolutionary histories of ultra-rare variants using variational dating of large ancestral recombination graphs

The paper develops a scalable method to estimate allele ages from large genomic datasets, revealing purifying selection and heterogeneity in ultra-rare variants.