212 papers
This study introduces TenVIP-seq, a novel single-molecule sequencing technology that captures viral nascent RNA to map polymerase pausing landscapes at single-nucleotide resolution, revealing distinct transcriptional mechanisms, drug-induced pausing intensification, host factor modulation, and unexpectedly high rates of terminal nucleotide misincorporation in influenza A virus.
This large-scale genomic study reveals that human viral DNA loads are significantly influenced by age, sex, and specific genetic variants—particularly within the MHC locus—which can causally increase the risk of Hodgkin lymphoma but not multiple sclerosis.
By integrating targeted and genome-wide Perturb-seq across 4.1 million primary human CD4+ T cells, this study maps the functional relationships between immune disease-associated noncoding variants, their target cis-regulatory elements, and downstream gene regulatory networks to elucidate the molecular mechanisms underlying immune diseases.
This study develops a protein folding-informed Bayesian model using the Deafness Variation Database to reclassify thousands of variants of uncertain significance as pathogenic, thereby improving genetic diagnoses for hearing loss by demonstrating that protein misfolding is a key mechanism of hereditary deafness.
Disruption of scavenger coelomocytes in *C. elegans* mothers impairs systemic RNA homeostasis, allowing excess somatic RNAs to invade the germline and trigger epigenetically inherited tumors in wild-type descendants via small RNA-mediated transgenerational transmission.
This study reveals that common and rare noncoding genetic variants contribute to brain disorders through distinct DNA methylation mechanisms, where common variants primarily affect mCG in excitatory neurons while rare de novo mutations preferentially perturb mCH in conserved neuronal regulatory regions.
This study demonstrates that the transcriptional regulator SIN3 acts as a metabolic sensor in Drosophila melanogaster by context-dependently modulating glycolytic gene expression in response to metabolic stress and playing a critical role in maintaining organismal longevity.
This study introduces a phenome-wide genetic framework applied to mouse datasets that reveals immune, metabolic, and growth traits—not behavioral ones—as the primary mechanisms mediating indirect genetic effects, suggesting that social transmission of gut microbes plays a crucial role in shaping complex phenotypes.
This study demonstrates that Central African hunter-gatherer populations preserve genetic diversity and reproductive fitness by flexibly adapting their mobility patterns and marriage norms to mitigate the fitness costs of homozygosity, highlighting culture as a central mechanism in human evolutionary adaptation.
Through in vivo-directed evolution, researchers identified AAV-WM04, a novel AAV2-derived vector that enables highly efficient, selective, and durable restoration of hearing in mouse models of DFNB9 by effectively delivering the large OTOF gene to inner hair cells.
This study demonstrates that in Drosophila, the Mettl5/Trmt112 complex regulates sleep by coordinating protein synthesis and degradation to control PERIOD protein levels, thereby linking ribosome function and proteasome activity to the sleep disturbances observed in intellectual disability.
By analyzing genomic data from the fungal wheat pathogen *Zymoseptoria tritici*, this study reveals that new cis-regulatory mutations predominantly cause gene downregulation, a trend that is strongest near coding sequences and suggests a potential role for selection in their rapid population increase.
This study demonstrates that analyzing mRNA abundance at the isoform level, rather than just the gene level, in Diversity Outbred mice reveals distinct genetic architectures, unique regulatory mechanisms driven by post-transcriptional processes and environmental factors like sex and diet, and novel biological pathways that are often missed by traditional gene-level QTL mapping.
This study integrates a comprehensive loss-of-function phenomics dataset of *Medicago truncatula* with novel non-canonical open reading frame (ncORF) data to reveal how ncORFs and trans effects complicate the interpretation of mutant phenotypes and to demonstrate that different protein classes exhibit distinct patterns of functional importance.
By analyzing genomic and blood biomarker data from over 7,000 dogs, this study establishes dogs as a powerful translational model for aging research, revealing conserved genetic pathways, breed-specific metabolic effects, and specific blood markers that predict individual mortality risk.
This study identifies a novel recessive short-QT arrhythmogenic cardiomyopathy caused by biallelic POPDC1 truncation, which disrupts the Ankyrin-G scaffold to create a lethal arrhythmogenic substrate characterized by a triad of bradyarrhythmia, paradoxical QT shortening, and progressive cardiomyopathy.
This study validates commonly used tissue-specific RNAi systems in *C. elegans* by revealing temperature-dependent variations in RNAi sensitivity across different mutant strains and demonstrates that the polyubiquitin gene UBQ-1 plays a convergent role in regulating vitellogenin metabolism and lifespan beyond its traditional function in proteostasis.
This study demonstrates that the chromatin remodeling complex PRC2 is a conserved critical regulator that safeguards alveolar epithelial type 2 (AT2) cell fate by preventing their aberrant transition into alveolar-basal intermediate and basal-like states, thereby maintaining lung homeostasis and preventing emphysematous remodeling.
This study identifies a specific 29-bp degenerate palindromic motif, the Sequence For Elimination (SFE), as both necessary and sufficient to trigger programmed DNA elimination in *Oscheius tipulae* by inducing double-strand breaks and facilitating de novo telomere healing, thereby revealing the molecular mechanism behind this developmental genome rearrangement.
This study characterizes a novel mouse model harboring a Tuba4aQ176P mutation that recapitulates key features of human spastic ataxia type 11 and congenital myopathy type 26, providing a specific tool to investigate cell-type selective neurodegeneration and myopathy without motor neuron loss.