Discover, rate, and verify biology preprints.

Minimally Invasive in Situ Perfusion Method for Targeted AAV Delivery in Native Kidney: Proof of Concept in Pigs

This paper develops a minimally invasive method for targeted AAV delivery to the native kidney in pigs, reducing liver off-target effects and enabling in-situ perfusion.

Beyond ERCs: exploring catastrophic forms of rDNA instability in aging yeast

The paper investigates rDNA instability in aging yeast, identifying new forms of instability beyond ERCs that contribute to lifespan variability.

Gene-level evolutionary conservation and human constraint decline at comparable rates across the age of onset of Mendelian disease

The paper compares the rate of decline in gene-level evolutionary conservation and human constraint scores with disease onset age across Mendelian diseases.

Ethanol stress induces siRNA-mediated epimutations and phenotypic variability in fission yeast

This study shows ethanol stress increases siRNA-mediated epimutations in fission yeast, leading to transposon expression changes and phenotypic variability.

The replication checkpoint couples fork progression to the release of transcribed genes from nuclear pores

This study shows that replication stress causes genes to detach from nuclear pores, coordinated with fork progression, and that checkpoint kinases Mec1/ATR and Rad53/CHK1 regulate this process in a stepwise manner.

A frameshift mutation in PRICKLE1 causes skeletal dysplasia in Cheviot sheep

The paper identifies a 10 bp deletion in PRICKLE1 causing skeletal dysplasia in Cheviot sheep and develops a DNA test to eliminate the mutation.

Niche-dependent epistasis within the cancer genome shapes metastatic fitness

The paper maps gene-by-gene-by-environment epistasis in cancer metastasis using CRISPR perturbations in mice, showing niche-dependent fitness and transcriptome convergence.

Contextualizing the polygenic basis of human brain shape

This study identifies genetic associations between human brain shape (globularity) and brain-related traits, revealing links to cerebellar volume, ventricular size, and metabolic pathways.

Ancient Mitogenomes from Belize Provide Insights into the Mobility and Migration of Ancient Communities in Mesoamerica and the Caribbean.

The paper analyzes ancient mitogenomes from Belize to study maternal genetic continuity and mobility patterns among ancient Maya populations and their relation to present-day communities.

Genetic analysis of bone morphometry and ivory vertebrae in threespine stickleback

This study identifies genetic loci influencing bone microstructure and a disease-like phenotype in threespine stickleback fish.

Transcriptomics of independent CRISPR-edited cell lines reveal ciliary-specific ARL13B dependent changes

The paper uses CRISPR-edited cell lines to identify genes whose expression changes with loss and restoration of ciliary ARL13B.

Distinct mechanisms of CNV formation at the human 15q13.3 locus

The paper identifies distinct mechanisms of CNV formation at the human 15q13.3 locus, showing that non-allelic homologous recombination is the primary mechanism, influenced by inversion polymorphisms and population-specific susceptibility.

Placental cis-eQTL analysis identifies preeclampsia-dependent genetic regulation at promoters

The paper identifies PE-dependent genetic regulation at promoters using cis-eQTL analysis of placental RNA sequencing data from the FINNPEC cohort.

High-efficiency targeted integration of extrachromosomal arrays in C. elegans using PhiC31 integrase

The paper introduces PhIAT, a method using PhiC31 integrase to efficiently integrate extrachromosomal arrays into C. elegans chromosomes, enabling stable genomic modifications.

Maternal repression of imprinted genes in endosperm by gene body demethylation

The paper shows that maternal removal of gene body methylation drives imprinting of PEGs in maize, with implications for gene regulation in rice but not Arabidopsis.

Genomic SEM reveals shared genetic architecture and expands locus discovery for locomotor activity in heterogeneous stock rats

The paper uses Genomic SEM to identify loci underlying locomotor activity in rats, finding 31 loci compared to fewer from other methods.

Linkage disequilibrium moderates how evolving genetic background shapes variant-level architecture

The paper develops a model of linkage disequilibrium evolution to show how genetic background and selection strength influence variant-level architecture across populations.

Recent effective population size of the snowy owl (Bubo scandiacus) tracks historical climate variation

This study uses whole-genome resequencing to show that the snowy owl's effective population size has declined over the past 1,600 years, linked to historical climate changes.

QTL analysis of essential oil, seed shattering, thousand-grain weight and stalk attachment rate in Carum carvi

This study identifies QTLs for essential oil, seed shattering, thousand-grain weight, and stalk attachment rate in Carum carvi using F2 populations and develops diagnostic markers for fine-mapping.

Inbred and outcrossed Drosophila embryos diverge in stress defense and developmental maintenance during heat stress

This study compares stress responses in inbred and outcrossed Drosophila embryos under heat stress, finding that inbred embryos show greater stress response activation and reduced developmental survival.