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Bai, G.

Publications and source records attributed to Bai, G..

At least 19 recordsLinked to original sources

Multi-omic long-read sequencing reveals nucleosome control of transcriptional fidelity at the isoform level

Transcription and RNA processing are tightly coupled to chromatin organization, yet how nucleosome positioning is coordinated across the promoter and gene body to shape alternative isoform expression remains poorly understood. This question has been difficult to address because short-read chromatin profiling cannot simultaneously capture promoter and gene-body chromatin states on the same DNA molecule, and short-read RNA sequencing cannot resolve full-length transcripts without requiring computational assembly. To address this, we deleted two conserved chromatin remodelers, ISW1 and CHD1, in Saccharomyces cerevisiae and profiled chromatin fibers, nascent RNA, and full-length mature RNA using Oxford Nanopore long-read sequencing. We developed EpiFLAIR, a computational framework that assigns discrete long-range chromatin states across entire genes and integrates these states with isoform-level transcriptional outputs. Using EpiFLAIR, we show that single-molecule chromatin states together with sequence motifs are strong predictors of alternative TSS isoform expression. Loss of ISW1 and CHD1 produced divergent transcriptional changes by activating transcriptionally silenced promoters while repressing active ones. Single-molecule chromatin profiling suggested that this redistribution of transcriptional activity arose, in part, from an anticorrelation between gene-body and promoter chromatin accessibility along the same chromatin fiber, a finding uniquely enabled by long-read single-molecule resolution. Furthermore, disruption of regular nucleosome spacing impaired RNAPII processivity and co-transcriptional splicing, consequently altering mature RNA levels and splicing isoform composition. Together, our findings demonstrate that nucleosomes maintain transcriptional fidelity during initiation, elongation, and splicing to regulate isoform expression. More broadly, long-read single-molecule chromatin profiling represents a powerful approach for linking chromatin organization to isoform-level gene regulation.

genomics↗

Multimodal physical evidence uncovers interpretable gene regulatory networks for perturbation prediction

Gene regulatory networks govern cell fate transitions through dynamic causal mechanisms1. Since exhaustively mapping this vast perturbation space experimentally is prohibitive2, scalable computational models are essential. Yet, current frameworks fall short because they infer statistical co-expression rather than physical mechanisms, remain blind to non-canonical regulators lacking classical DNA-binding motifs, and fail to generalize across unseen perturbation factors or cell lines. Here we show that a multimodal biophysical framework, VitaGRN, overcomes these barriers by constructing a biophysical regulatory scaffold from multimodal evidence and propagating interactions to capture non-canonical regulators. By leveraging structurally aligned protein embeddings, VitaGRN predicts zero-shot perturbation responses and uncovers non-canonical translational control programs. Notably, VitaGRN demonstrates robust generalization across unseen factors, cell lines, and developmental transitions. Ultimately, VitaGRN generates a confidence-calibrated virtual perturbation atlas spanning over a thousand factors. This resource reframes gene regulatory networks from static correlation graphs into dynamically generalizable and mechanistically trans-parent models, streamlining wet-lab candidate prioritization.

bioinformatics↗

Identification of septoria nodorum blotch susceptibility genes in hard winter wheat

Key message Characterized and unknown septoria nodorum blotch susceptibility/resistance genes were identified in contemporary U.S. hard winter wheat. The necrotrophic fungus Parastagonospora nodorum is the causal agent of septoria nodorum blotch (SNB) of wheat. To determine the prevalence of SNB sensitivity genes in a contemporary U.S. hard winter wheat (HWW), we evaluated a panel of 619 breeding lines and cultivars against five P. nodorum isolates and five necrotrophic effectors (NEs), SnToxA, SnTox1, SnTox3, SnTox267 and SnTox5, and genotyped the panel using genotyping-by-sequencing (GBS) markers and diagnostic Kompetetive-allele specific PCR (KASP) markers for the sensitivity genes Tsn1-B1, Snn1-B1, and Snn3-B1/B2. GBS analysis identified 34,357 GBS-single nucleotide polymorphism (SNP) markers. Evaluations against P. nodorum isolates showed that 40-67% of the genotypes were susceptible in the panel. Toxin infiltration assays showed that 54%, 2%, 37%, 13%, and 15% of the genotypes were sensitive to SnToxA, SnTox1, SnTox3, SnTox267, and SnTox5, respectively. Diagnostic KASP markers for Tsn1-B1, Snn1-B1, and Snn3-B1/B2 showed prediction accuracies of 98%, 75%, and 92% for the corresponding effectors SnToxA, SnTox1, and SnTox3, respectively. Genome-wide association studies (GWAS) not only confirmed the presence of the previously characterized sensitivity genes Tsn1-B1, Snn1-B1, Snn2, Snn3-B1/B2, and Snn5-B1, but also identified new loci to be associated with responses to P. nodorum isolates and NEs. Of which, Qsnb.osu-2AS on chromosome 2AS was associated with responses to all five isolates. We developed KASP markers KASP_S4B_643615365, KASP_ S2D_16184991, and KASP_S2A_9833162 linked to Snn5-B1, Snn2, and Qsnb.osu-2AS, respectively. These findings should guide breeding for SNB resistance in hard winter wheat.

genetics↗

Mapping of Stripe Rust and Leaf Rust Resistance Genes in the Hard Red Winter Wheat Population Green Hammer/Lonerider

Stripe rust and leaf rust, caused by Puccinia striiformis f. sp. tritici and P. triticina, respectively, are the most destructive wheat diseases in the southern Great Plains. Green Hammer is a hard red winter wheat (HRWW) cultivar released by Oklahoma State University in 2018 and has demonstrated a stable adult plant resistance to stripe rust and race-specific seedling resistance to leaf rust. To identify and map rust resistance loci, 109 doubled haploid (DH) lines derived from the cross between Green Hammer and another HRWW cultivar, Lonerider, were developed. Lonerider showed adult plant resistance to stripe rust but was susceptible to multiple P. triticina races. The DH lines were evaluated for stripe rust at the adult plant stage in greenhouse and field environments across Oklahoma, Kansas, and Washington, and for leaf rust at the seedling stage against seven U.S. P. triticina races and at the adult plant stage in Oklahoma and Texas. Genotyping-by-sequencing generated 6,078 polymorphic single-nucleotide polymorphisms used for genetic mapping. Quantitative trait loci (QTL) analysis identified 14 stripe rust and 8 leaf rust resistance QTL. For stripe rust, a major QTL in Green Hammer, QYr.osughln-2AS, was identified in the proximity of the 2NvS translocation. Three other major stripe rust resistance QTL were identified in Lonerider on chromosomes 2AL (two QTL) and 2BS (one QTL). For leaf rust, QLr.osughln-1DS and QLr.osughln-2DS.1 were the two major QTL identified in Green Hammer and most likely correspond to the all-stage resistance genes Lr21 and Lr39, respectively. In this study, we identified previously characterized genes as well as unknown genes that can be utilized in wheat breeding programs to enhance resistance to leaf rust and stripe rust.

genetics↗

Chemoproteomic Characterization of GPX4 Covalent Ligands and Targeted Degradation

Despite intensive efforts, the ferroptosis gatekeeper glutathione peroxidase 4 (GPX4) remains difficult to selectively target due to stringent structural constraints surrounding its catalytic selenocysteine, which impose tight requirements on warhead reactivity and geometry. Here, leveraging a chemoproteomic approach, we characterize a potent and selective covalent GPX4 inhibitor featuring a pyrimidinylmethyl isourea warhead and define the chemical features underlying its proteome-wide selectivity. This chemotype enables tunable electrophile reactivity through steric and electronic modulation of leaving group ability, suggesting potential broader utility for targeting other recalcitrant proteins. Building on this scaffold, we further develop two selective GPX4 degraders - one CRBN-dependent and the other CRBN-independent - enabling complementary modulation of GPX4 through both inhibition and degradation. Together, these molecules expand the GPX4 chemical toolbox for more nuanced interrogation of GPX4 biology.

cancer biology↗

Histone H2BK120 ubiquitination modulates PRC1 activity and H2AK119ub deposition on nucleosomes

Polycomb group and Trithorax group complexes antagonistically regulate developmental gene expression, yet the mechanisms coordinating their interplay remain poorly understood. Here, we uncover a synergistic histone crosstalk in which H2BK120ub (histone H2B ubiquitination at lysine 120), a Trithorax-associated active mark, enhances Polycomb repressive complex 1 (PRC1) activity by directly binding specific PCGF subunits of PRC1 on the nucleosome surface, as shown in cryo-electron microscopy (cryo-EM) analysis. Beyond regulating enzymatic activity, H2BK120ub also modulates the competitive binding between the catalytic RNF2-BMI1 module and the RYBP subunit of noncanonical PRC1.4 complexes to nucleosomes, potentially restricting H2AK119ub (histone H2A ubiquitination at lysine 119) spreading to neighboring nucleosomes. In mouse embryonic stem cells, H2BK120ub directs the deposition of H2AK119ub within the gene bodies of a subset of developmental genes, which exhibit more rapid activation compared to canonical H3K4me3/H3K27me3 bivalent genes. These findings reveal a previously unrecognized mechanism that links active and repressive histone modifications, providing new insights into the intricate chromatin regulation of gene expression during development.

molecular biology↗

Dietary Non-protein Amino Acid AZE as an Environmental Trigger Activating Latent Genetic Susceptibility in C9orf72-ALS Pathogenesis

In human disease, clinical manifestations are not always tightly correlated with genetic etiology. While the GGGGCC (G4C2) hexanucleotide repeat expansion in the C9orf72 gene is the most prevalent genetic cause of ALS, a subset of mutation carriers stays asymptomatic. The molecular mechanisms underlying this incomplete penetrance remain elusive. Here, we identify L-azetidine-2-carboxylic acid (AZE), a dietary non-protein amino acid, as a critical environmental risk factor capable of unmasking latent genetic susceptibility in C9orf72-ALS pathogenesis. Specifically, AZE disrupts the proteasome-mediated clearance of toxic poly-GA dipeptide repeats derived from G4C2 repeats, triggering pronounced neuroinflammation and motor defects in a C9orf72-ALS mouse model that otherwise exhibits minimal phenotypes. Notably, AZE is widely present in the food chain (particularly in sugar beet) and consistently detectable in the postmortem human brains. A significant positive correlation was observed between sugar beet consumption and the incidence of sporadic C9-ALS cases in European nations. Critically, dietary intake of sugar beet juice is sufficient to activate subclinical genetic susceptibility in C9orf72-ALS mice. These findings reveal a direct diet-gene interplay in governing C9orf72-ALS penetrance, and propose dietary restriction of AZE-rich foods as a tangible strategy for genetically susceptible individuals to potentially delay or mitigate this currently incurable disorder.

neuroscience↗

Genetic architecture and evolution of stripe rust resistance uncovered using diverse panels of wheat lines and North American Puccinia striiformis f. sp. tritici isolates

Newly emerging highly virulent races of Puccinia striiformis f. sp. tritici (Pst) often defeat deployed resistance genes (Yr), highlighting the need for novel sources of durable resistance. A global diversity panel of 377 spring wheat (Triticum aestivum L.) lines was screened for all-stage resistance (ASR) against 20 diverse Pst isolates at the seedling stage and adult plant resistance (APR) against natural mix of field races. Genome-wide association mapping identified 77 unique Yr loci. Of these, 33 overlapped with the previously reported ~1,100 loci, while 44 were likely novel. Nine mapped Yr loci were effective at the adult plant stage and showed no overlap with the known APR genes. Two wheat lines, though lacked the widely effective Yr5 and Yr15 genes, exhibited resistance to all 20 Pst races at the seedling stage and natural field races at the adult stage, suggesting that they may carry novel, broad-spectrum resistance alleles. APR genes Yr18, Yr29, and Yr36 were detected at low frequencies, indicating that much of the observed resistance may arise from less characterized or novel sources. Wheat improvement had no effect on the frequency of ASR alleles but resulted in a three-fold increase in the frequency of APR alleles, suggesting that the latter were subjected to more consistent breeding selection over time. Our findings underscore the value of combined screening of diverse germplasm with the diverse panels of pathogen races to identify novel sources of broad-spectrum resistance for breeding stripe rust resistant cultivars.

genetics↗

Programming Microbe-Computer Interaction for Customized Life-Nonlife and Cross-Life Communication

This extension of human-computer interaction (HCI) paradigm to the non-intelligent microbe-computer interaction (MCI) is attractive for building generalized life-nonlife communication. Main challenges lie in how to construct biohybrid interface within individual MCI unit and thereafter program cross-life communication based on these MCI units. Here, we propose the design and construction of opto-interfaced MCI unit composed of engineered microbes and computer terminals, for enabling quantifiable transduction between microbial signals and digital signals. These units were able to serve as biohybrid sensors, actuators and transceivers, supporting biomonitoring, bio-actuation and microbe-centric bidirectional operations. Based on these functional units, we established programmable cross-life communication architectures capable of unicast, multicast, and logic-gate-driven communication with temporal dynamic control. The architectures were validated in biomedical scenarios including tumor hypoxia biomarking, epidermal heavy metal detoxification, and colitis intervention, demonstrating robust performance in closed-loop diagnostic-therapeutic applications. Additionally, we integrated MCI with an unmanned surface vessel for environmental monitoring, highlighting its cross-domain potential. Collectively, we provide a scalable strategy for building customized life-nonlife and cross-life communication, which is expected as an important complement to internet of things (IoT).

synthetic biology↗

Enteric ChAT-expressing neurons as new target for Lactobacillus plantarum ameliorates inflammatory bowel diseases

The gut microbiota plays a crucial role in inflammatory bowel diseases (IBD), yet how specific microbial components influence disease progression remains incompletely understood. Our study reveals that decreased abundance of Lactobacillus species correlates with ulcerative colitis severity in patients. Among tested strains, L. plantarum A736, isolated from traditional fermented foods, demonstrated remarkable efficacy in ameliorating dextran sulfate sodium (DSS)-induced colitis in a mouse model. Strikingly, multi-omics analysis revealed that L. plantarum A736 uniquely enhances choline acetyltransferase-expressing (ChAT+) neurons in the enteric nervous system and elevates acetylcholine (ACh) levels. Further analysis identified that L. plantarum A736 metabolizes tryptophan to produce indole-3-lactic acid (ILA), and supplementation with ILA significantly mimics this strains anti-inflammatory effects by activating ChAT+ neurons. Crucially, selective ablation of colonic ChAT+ neurons completely abolished the therapeutic benefits of both L. plantarum A736 and ILA, establishing their essential role in mediating these effects. These findings demonstrate for the first time that microbial metabolites can directly modulate enteric neuronal circuits to regulate gut immunity. The identified ILA-ChAT+ neuron axis represents a novel neuro-immune pathway that could be targeted for IBD treatment. Graphical abstract O_FIG O_LINKSMALLFIG WIDTH=200 HEIGHT=200 SRC="FIGDIR/small/673902v1_ufig1.gif" ALT="Figure 1"> View larger version (63K): org.highwire.dtl.DTLVardef@1e0d3c5org.highwire.dtl.DTLVardef@16f5481org.highwire.dtl.DTLVardef@152283org.highwire.dtl.DTLVardef@18cfad0_HPS_FORMAT_FIGEXP M_FIG C_FIG

microbiology↗

Identification of stripe rust adult plant resistance genes in the hard winter wheat cultivar Bakers Ann

Stripe rust, caused by Puccinia striiformis f. sp. tritici (Pst), is among the most destructive wheat diseases. Identifying resistance genes is crucial for the development of resistant cultivars. "Bakers Ann", a hard winter wheat cultivar developed by Oklahoma State University, has shown durable adult plant resistance to stripe rust. To dissect the genetic basis underlying stripe rust resistance in Bakers Ann, 125 doubled haploid lines, derived from the cross OK12D22004-016 x Bakers Ann, were evaluated at the adult plant stage in the greenhouse and in field environments in Oklahoma, Kansas, and Washington. This population was genotyped using genotyping-by-sequencing, which produced 7,268 single-nucleotide polymorphisms for genetic mapping. Quantitative trait loci (QTL) analysis identified six loci, four from Bakers Ann on chromosomes 2DL, 4BS, 4BL, and 7BL, and two from OK12D22004-016 on chromosomes 2AS and 2AL. Although OK12D22004-016 is susceptible in the US Great Plains, it was found to carry QYr.osu-2AS, which was linked to Yr17 on the 2NvS translocation and explained up to 30% of the phenotypic variation, but was effective in a single location in Washington. Two major QTL were identified in Bakers Ann, QYr.osu-2DL on chromosome 2DL that explained up to 57% of the phenotypic variation and mapped close to Yr54, and QYr.osu-4BL on chromosome 4BL that explained up to 15% of the phenotypic variation and mapped close to Yr62. Resistance in Bakers Ann resulted from additive effects of the four QTL. Two kompetitive allele-specific PCR markers were developed for QYr.osu-2DL to facilitate marker-assisted selection for stripe rust resistance.

genetics↗

WHEP Domain of Glycyl-tRNA Synthetase Regulates Neuropilin 1 Binding and Vascular Permeability

AbstractAminoacyl-tRNA synthetases (aaRSs) charge tRNAs with their cognate amino acids, ensuring accurate translation of the genetic code from mRNA to protein. During eukaryotic evolution, aaRSs acquired additional domains with unclear functions, including the WHEP domain, a two-helix bundle found in several eukaryotic aaRSs such as glycyl-tRNA synthetase (GlyRS, encoded by GARS1). We generated Gars1{Delta}WHEP mutant mice lacking exon 2, which disrupts most of the WHEP domain. Homozygous Gars1{Delta}WHEP/{Delta}WHEP mice exhibited late embryonic or neonatal lethality, with delayed lung development, characterized by reduced airway dilation (inflatability), and increased vascular leakage. Disruption of the WHEP domain did not impair tRNA aminoacylation but inhibited the free release of GlyRS from cells. Instead, GlyRS{Delta}WHEP was found in the membrane fractions and showed a stronger interaction with the extracellular region of neuropilin 1 (Nrp1) receptor compared to full-length GlyRS. This aberrant interaction enhanced Nrp1s endocytic activity and significantly reduced the localization of the Nrp1 interactor VE-cadherin at the adherens junctions of endothelial cells. A heterozygous knockout of Nrp1 in the Gars1 {Delta}WHEP/{Delta}WHEP mice partially rescued body weight and vascular permeability defects. This study establishes a physiological role for the GlyRS WHEP domain in lung development and its regulation of GlyRS-Nrp1 interaction and vascular permeability.

molecular biology↗

Genetic modulation of yield and phenotypic plasticity of yield in winter wheat

For winter wheat in the US Central Great Plains, phenotypic plasticity of yield is agronomically adaptive, i.e., genotypes with higher plasticity have higher yield in high yielding environments with no tradeoff in stressful, low yielding environments. Using data from variety trials conducted between 2000 and 2022 and cultivars released between 1967 and 2022, we explored time trends in phenotypic plasticity and heritability of yield. We hypothesize that i) if yield plasticity is agronomically adaptive, then newer cultivars will have higher yield plasticity; ii) heritability of yield is declining in the time series; and iii) genomic regions associated with yield depend on the environment and do not fully overlap with those associated with phenotypic plasticity of yield. Breeding for yield and agronomic adaptation increased phenotypic plasticity of yield at 0.5% year -1; broad sense heritability of yield decreased from 0.23 in 1993 to 0.15 in 2017. Genome-wide-association analysis shows genomic regions associated with yield varied between high yielding and stressful environments and were partially independent of those associated with yield plasticity. Newer cultivars have a higher frequency of alleles associated with yield and its plasticity. We discuss implications for breeding and agronomy aimed to improve wheat phenotypes.

genetics↗

Identification of leaf rust resistance loci in hard winter wheat using genome-wide association mapping

Leaf rust, caused by Puccinia triticina (Pt), is a serious constraint to wheat production. Developing resistant varieties is the best approach to managing this disease. Wheat leaf rust resistance (Lr) genes have been classified into either all-stage resistance (ASR) or adult-plant resistance (APR). The objectives of this study were to identify sources of leaf rust resistance in contemporary U.S. hard winter wheat (HWW) and to dissect the genetic basis underlying leaf rust resistance in HWW. A panel of 732 elite HWW genotypes was evaluated for response to U.S. Pt races at the seedling stage and at the adult plant stage in leaf rust nurseries in Oklahoma, Texas, and Kansas. Further, the panel was genotyped using Multiplex Restriction Amplicon Sequencing (MRA-Seq) and DNA markers linked to the known ASR genes Lr18, Lr19, Lr21, Lr24, Lr37, and Lr42 and APR genes Lr34, Lr46, Lr67, Lr68, Lr77, and Lr78. Single nucleotide polymorphism (SNP) markers derived from MRA-Seq, DNA markers linked to the known Lr genes, and the phenotypic data were used for genome-wide association study (GWAS) to identify markers associated with leaf rust response. Gene postulation based on leaf rust reactions, DNA markers, and GWAS suggested the presence of Lr1, Lr2a, Lr10, Lr14a, Lr16, Lr18, Lr19, Lr21, Lr24, Lr26, Lr34, Lr37, Lr39, Lr42, Lr46, Lr68, Lr77, and Lr78 in the HWW panel. The GWAS identified 59 SNPs significantly associated with leaf rust response, of which 20 were likely associated with novel resistance loci and can be used to enhance wheat leaf rust resistance.

genomics↗

Deep learning of protein energy landscape and conformational dynamics from experimental structures in PDB

Protein structure prediction has reached revolutionary levels of accuracy on single structures, implying biophysical energy function can be learned from known protein structures. However apart from single static structure, conformational distributions and dynamics often control protein biological functions. In this work, we tested a hypothesis that protein energy landscape and conformational dynamics can be learned from experimental structures in PDB and coevolution data. Towards this goal, we develop DeepConformer, a diffusion generative model for sampling protein conformation distributions from a given amino acid sequence. Despite the lack of molecular dynamics (MD) simulation data in training process, DeepConformer captured conformational flexibility and dynamics (RMSF and covariance matrix correlation) similar to MD simulation and reproduced experimentally observed conformational variations. Our study demonstrated that DeepConformer learned energy landscape can be used to efficiently explore protein conformational distribution and dynamics.

biophysics↗

Non-additive dosage-dependent effects of TaGS3 gene editing on grain size and weight in wheat

The grain size in cereals is one of the main component traits contributing to yield. Previous studies showed that loss-of-function (LOF) mutations in GS3, encoding G{gamma} subunit of the multimeric G protein complex, increase grain size and weight in rice. While association between allelic variation in GS3 homologs of wheat and grain weight/size was detected previusly, the effects of LOF alleles on these traits remain unknown. We used genome editing to create the TaGS3 mutant lines with the LOF homeo-allele dosage variation. Contrary to results obtained for rice, editing of all three TaGS3 copies result in significant decrease in grain length, width, grain area and weight, without affecting number of grains per spike. Compared to wild type, the highest increase in grain weight and area was observed in mutants with the intermediate dosage of the LOF alleles, indicating that suppressive effects of TaGS3 on grain size and weight in wheat are dosage-dependent and non-additive. Our results suggest that TaGS3 likely represents a functionally diverged homolog of GS3 evolved in the wheat lineage. The newly developed LOF alleles of TaGS3 expand the set of CRISPR-Cas9-induced variants of yield component genes that could be used for increasing grain weight in wheat.

genetics↗

Probing chromatin accessibility with small molecule DNA intercalation and nanopore sequencing

Studies of in vivo chromatin organization have relied on the accessibility of the underlying DNA to nucleases or methyltransferases, which is limited by their requirement for purified nuclei and enzymatic treatment. Here, we introduce a nanopore-based sequencing technique called Small-Molecule Adduct sequencing (SMAdd-seq), where we profile chromatin accessibility by treating nuclei or intact cells with a small molecule, angelicin. Angelicin reacts with thymine bases in linker DNA not bound to core nucleosomes after UV light exposure, thereby labeling accessible DNA regions. By applying SMAdd-seq in Saccharomyces cerevisiae, we demonstrate that angelicin-modified DNA can be detected by its distinct nanopore current signals. To systematically identify angelicin modifications and analyze chromatin structure, we developed a neural network model, NEural network for mapping MOdifications in nanopore long-reads (NEMO). NEMO accurately called expected nucleosome occupancy patterns near transcription start sites at both bulk and single-molecule levels. We observe heterogeneity in chromatin structure and identify clusters of single-molecule reads with varying configurations at specific yeast loci. Furthermore, SMAdd-seq performs equivalently on purified yeast nuclei and intact cells, indicating the promise of this method for in vivo chromatin labeling on long single molecules to measure native chromatin dynamics and heterogeneity. GRAPHICAL ABSTRACT O_FIG O_LINKSMALLFIG WIDTH=200 HEIGHT=123 SRC="FIGDIR/small/585815v2_ufig1.gif" ALT="Figure 1"> View larger version (39K): org.highwire.dtl.DTLVardef@14a0f8dorg.highwire.dtl.DTLVardef@143030eorg.highwire.dtl.DTLVardef@7d8ed4org.highwire.dtl.DTLVardef@12c3b05_HPS_FORMAT_FIGEXP M_FIG C_FIG

genomics↗

HLTF Prevents G4 Accumulation and Promotes G4-induced Fork Slowing to Maintain Genome Stability

G-quadruplexes (G4s) form throughout the genome and influence important cellular processes, but their deregulation can challenge DNA replication fork progression and threaten genome stability. Here, we demonstrate an unexpected, dual role for the dsDNA translocase HLTF in G4 metabolism. First, we find that HLTF is enriched at G4s in the human genome and suppresses G4 accumulation throughout the cell cycle using its ATPase activity. This function of HLTF affects telomere maintenance by restricting alternative lengthening of telomeres, a process stimulated by G4s. We also show that HLTF and MSH2, a mismatch repair factor that binds G4s, act in independent pathways to suppress G4s and to promote resistance to G4 stabilization. In a second, distinct role, HLTF restrains DNA synthesis upon G4 stabilization by suppressing PrimPol-dependent repriming. Together, the dual functions of HLTF in the G4 response prevent DNA damage and potentially mutagenic replication to safeguard genome stability.

molecular biology↗