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Baugh, L. R.

Publications and source records attributed to Baugh, L. R..

15 recordsLinked to original sources

Large-scale pooled selection enables mapping of modifiers of RNAi gene knockdown effects in C. elegans

Genetic interactions contribute to phenotypic variation, yet most studies characterize them in a small number of reference backgrounds rather than across natural populations. Studying genetic interactions in Caenorhabditis elegans is facilitated by RNAi by feeding, which enables gene-specific knockdowns across many genetic backgrounds without the need to construct individual mutant lines. However, individually screening hundreds of isolates across many RNAi conditions is laborious. Here, we developed a pooled platform that uses whole-genome sequencing to quantify the fitness of hundreds of genetically distinct C. elegans strains competing in a single flask. We leveraged this platform to evaluate RNAi responses in a pooled population of RNAi-sensitive C. elegans strains and identified two classes of QTL that influence RNAi responses. The first class influences responses to knockdowns of specific genes and is exemplified by a QTL that is specific to knockdown of mig-6. The second class influences general RNAi-response across multiple knockdowns. One QTL in this class localized to the right arm of chromosome III and was detected by both GWA and xQTL mapping, which suggests that a common large-effect variant underlies this QTL. We identified a T96K missense change in the dsRNA receptor SID-2 as the underlying causal variant. The 96K allele resides in the extracellular domain of SID-2 and confers increased RNAi sensitivity relative to the 96T allele. We hypothesize that the 96K allele enables greater uptake of ingested lumenal dsRNA through higher-affinity binding to the dsRNA phosphate backbone. The platform we developed enables systematic mapping of genetic interactions across natural populations at a previously impractical scale.

genetics↗

An atlas of the C. elegans starvation response reveals that transcription is necessary to initiate transcriptional silencing in quiescent primordial germ cells

Starvation profoundly impacts development, but how different tissues respond to starvation is unclear. We generated a cellular atlas of gene expression in fed and starved C. elegans L1 larvae. We identified 79 cell types in both conditions, and we detected [~]98% of protein-coding genes, 44% of which were differentially expressed. Starvation affected translation-related genes across the animal, and most "housekeeping" genes were downregulated. However, tissue-specific patterns of differential expression, transcription factor activity, and GO term enrichments are widespread, suggesting tissue-specific gene regulatory mechanisms and functional consequences. We inferred tissue-specific effects on transcription factor activity, identifying known and novel putative nutrient-dependent transcriptional regulators. Surprisingly, we found extensive transcription in starved primordial germ cells (PGCs), which are known to hyper-compact their chromatin and silence transcription during L1 starvation. We validated PGC transcription of aak-1/AMPK, and we showed that zygotic aak-1/AMPK is required for PGC chromatin hyper-compaction, supporting reproductive success upon recovery. This work provides a valuable resource characterizing nutritional control of transcription in an animal, and it reveals that transcription of aak-1/AMPK is necessary to silence transcription in quiescent PGCs.

genomics↗

Nutrient-responsive and DAF-16/FoxO target H1 histone HIL-1 promotes resistance to starvation and bacterial pathogens in Caenorhabditis elegans

Insulin/IGF-1 signaling (IIS) mediates metabolic and developmental acclimation to stressful conditions including starvation. The transcription factor DAF-16/FoxO actuates many of the physiological effects of reduced IIS, yet the specific contributions of DAF-16 target genes to stress resistance remain poorly understood. We explore the function of C. elegans H1 linker histone HIL-1/H1.0, a DAF-16 target that is upregulated during starvation. The HIL-1 sequence is divergent from the other eight annotated C. elegans H1 variants, and the others are not so highly responsive to nutrient availability and DAF-16 activity, suggesting distinct function. Using knock-in reporters, we find that HIL-1 is broadly expressed in nuclei of L1 and dauer larvae during starvation, but that expression is largely undetectable in fed larvae. Disrupting hil-1 activity through mutation or auxin-inducible degradation led to reduced growth after extended L1 starvation, revealing reduced starvation resistance. RNA-seq of hil-1 mutants suggested that HIL-1 activates genes involved in the innate immune response, and hil-1 mutants display compromised survival upon exposure to Pseudomonas aeruginosa under reduced IIS. Together these results suggest that DAF-16/FoxO activates transcription of hil-1 during starvation to promote resistance to starvation and pathogens. We demonstrate conditional regulation of an H1 histone, and we reveal a novel mechanism for how IIS promotes stress resistance by identifying a histone variant that connects nutrient sensing to immunity. ARTICLE SUMMARYH1 histones promote condensation of chromatin. Like many other organisms, the roundworm Caenorhabditis elegans has several H1 histones, but their regulation and function is unclear. We were intrigued by hil-1/H1.0 because it is dramatically up-regulated during starvation in daf-16/FoxO-dependent fashion. Insulin/IGF signaling regulates DAF-16, and DAF-16 is critical to starvation resistance. We used genome editing to create alleles to interrogate hil-1 expression and function. We show HIL-1 is expressed throughout the animal during starvation, it activates expression of immunity genes, and it promotes resistance to starvation and a bacterial pathogen. This work demonstrates a connection between nutrient sensing and immunity.

genetics↗

Early life starvation and Hedgehog-related signaling activate innate immunity downstream of daf-18/PTEN and lin-35/Rb causing developmental abnormalities in adult C. elegans

Early life experiences such as malnutrition can affect development and adult disease risk, but the molecular basis of such protracted effects is poorly understood. In the nematode C. elegans, extended starvation during the first larval stage causes the development of germline tumors and other abnormalities in the adult gonad, limiting reproductive success. Insulin/IGF signaling (IIS) acts through WNT signaling and lipid metabolism to promote starvation-induced gonad abnormalities, but IIS-independent modifiers have not been identified. We show that the tumor suppressors daf-18/PTEN and lin-35/Rb act independently of IIS to suppress starvation-induced abnormalities. We found that lin-35/Rb antagonizes activity of the Hedgehog (Hh) signaling homologs ptr-23/PTCH-related, wrt-1/Hh-like, wrt-10/Hh-like, and tra-1/GLI, which promote starvation-induced abnormalities. These Hh-related genes transcriptionally activate several genes associated with innate immunity in adults, which also promote starvation-induced gonad abnormalities. Surprisingly, we found that in addition to causing developmental abnormalities, early-life starvation induces an innate immune response later in life, leading to increased resistance to multiple bacterial pathogens. This work identifies a critical tumor-suppressor function of daf-18/PTEN independent of IIS, and it defines a regulatory network, including lin-35/Rb, Hh-related signaling, and the innate immunity pathway, that affects development of tumors and other developmental abnormalities resulting from early life starvation. By revealing that early-life starvation increases immunity later in life, this work suggests a fitness tradeoff between pathogen resistance and developmental robustness. AUTHOR SUMMARYEarly life malnutrition can promote adult disease, including the risk of developing cancer. We previously found that the roundworm Caenorhabditis elegans develops tumors in well-fed adults following early life starvation, reflecting a breakdown of developmental fidelity. This powerful model system provides an excellent opportunity to identify molecular mechanisms that mediate the effects of early life starvation on development and adult physiology. Reducing insulin-like/IGF signaling during recovery from starvation suppresses tumor formation, but other regulatory pathways have not been identified. Here we show that a pair of important tumor suppressor genes, daf-18/PTEN and lin-35/Rb, function independently of insulin/IGF signaling to suppress starvation-induced abnormalities. lin-35/Rb represses the activity of genes involved in Hedgehog signaling, a cancer-causing pathway, which promote starvation-induced abnormalities. Hedgehog signaling activates an immune response, which, surprisingly, contributes to formation of tumors but renders adult worms resistant to pathogenic bacteria. Adult activation of this immune response by early life starvation suggests an evolutionary fitness tradeoff between pathogen resistance and developmental fidelity.

genetics↗

Developmental and conditional regulation of DAF-2/INSR ubiquitination in Caenorhabditis elegans

Insulin/IGF signaling (IIS) regulates developmental and metabolic plasticity. Conditional regulation of insulin-like peptide expression and secretion promotes different phenotypes in different environments. However, IIS can also be regulated by other, less-understood mechanisms. For example, stability of the only known insulin/IGF receptor in C. elegans, DAF-2/INSR, is regulated by CHIP-dependent ubiquitination. Disruption of chn-1/CHIP reduces longevity in C. elegans by increasing DAF-2/INSR abundance and IIS activity in adults. Likewise, mutation of a ubiquitination site causes daf-2(gk390525) to display gain-of-function phenotypes in adults. However, we show that this allele displays loss-of-function phenotypes in larvae, and that its effect on IIS activity transitions from negative to positive during development. In contrast, the allele acts like a gain-of-function in larvae cultured at high temperature, inhibiting temperature-dependent dauer formation. Disruption of chn-1/CHIP causes an increase in IIS activity in starved L1 larvae, unlike daf-2(gk390525). CHN-1/CHIP ubiquitinates DAF-2/INSR at multiple sites. These results suggest that the sites that are functionally relevant to negative regulation of IIS vary in larvae and adults, at different temperatures, and in nutrient-dependent fashion, revealing additional layers of IIS regulation. ARTICLE SUMMARYInsulin-like signaling plays a critical role in helping animals adapt to different environmental conditions. Differences in abundance of insulin molecules drive differences in insulin signaling, affecting growth, metabolism, and resistance to stressful conditions. Previous work in the roundworm C. elegans showed that targeted degradation of the insulin receptor also regulates insulin signaling. We show here that this process is affected by developmental stage, nutrient availability, and temperature, revealing additional ways that insulin-like signaling is regulated in this valuable animal model.

genetics↗

Chromosome-level reference genomes for two strains of Caenorhabditis briggsae: an improved platform for comparative genomics

The publication of the Caenorhabditis briggsae reference genome in 2003 enabled the first comparative genomics studies between C. elegans and C. briggsae, shedding light on the evolution of genome content and structure in the Caenorhabditis genus. However, despite being widely used, the currently available C. briggsae reference genome is substantially less complete and structurally accurate than the C. elegans reference genome. Here, we used high-coverage Oxford Nanopore long-read and chromosome conformation capture data to generate chromosomally resolved reference genomes for two C. briggsae strains: QX1410, a new reference strain closely related to the laboratory AF16 strain, and VX34, a highly divergent strain isolated in China. We also sequenced 99 recombinant inbred lines (RILs) generated from reciprocal crosses between QX1410 and VX34 to create a recombination map and identify chromosomal domains. Additionally, we used both short- and long-read RNA sequencing (RNA-seq) data to generate high-quality gene annotations. By comparing these new reference genomes to the current reference, we reveal that hyper-divergent haplotypes cover large portions of the C. briggsae genome, similar to recent reports in C. elegans and C. tropicalis. We also show that the genomes of selfing Caenorhabditis species have undergone more rearrangement than their outcrossing relatives, which has biased previous estimates of rearrangement rate in Caenorhabditis. These new genomes provide a substantially improved platform for comparative genomics in Caenorhabditis and narrow the gap between the quality of genomic resources available for C. elegans and C. briggsae.

genomics↗

Natural variation in the irld gene family affects insulin/IGF signaling and starvation resistance

Starvation resistance is important to disease and fitness, but the genetic basis of its natural variation is unknown. We developed a synthetic-population (re)sequencing approach using molecular inversion probes (MIP-seq) to measure relative fitness during and after larval starvation in C. elegans. We applied this competitive assay to 100 genetically diverse, sequenced, wild strains, revealing natural variation in starvation resistance. We confirmed that the most starvation-resistant strains survive and recover from starvation better than the most starvation-sensitive strain, MY2147, using standard assays. We performed genome-wide association with the MIP-seq trait data and identified three quantitative trait loci (QTL) for starvation resistance. These QTL contain several members of the Insulin/EGF Receptor-L Domain (irld) family with sequence variation associated with variation in starvation resistance. We used genome editing to show that individual modification of four irld genes increases starvation resistance of MY2147. Modification of irld-39 and irld-52 together increases starvation resistance of the laboratory-reference strain N2. Increased starvation resistance of the irld-39; irld-52 double mutant depends on daf-16/FoxO, and these worms also show increased nuclear localization of DAF-16 during starvation. DAF-16/FoxO is a widely conserved transcriptional effector of insulin/IGF signaling (IIS), and these results suggest that IRLD proteins modify IIS. This work demonstrates efficacy of using MIP-seq to dissect a complex trait, identifies irld genes as natural modifiers of starvation resistance in C. elegans, and suggests that an expanded gene family affects a deeply conserved signaling pathway to alter a fitness-proximal trait.

genetics↗

Alternative somatic and germline gene-regulatory strategies during starvation-induced developmental arrest

Nutrient availability governs growth and quiescence, and many animals arrest development when starved. Somatic and germline cells have distinct functions and constraints, suggesting different regulatory mechanisms contribute to an integrated starvation response. Using C. elegans L1 arrest as a model, we show that gene expression changes deep into starvation. Surprisingly, relative expression of germline-enriched genes increases for days. We conditionally degraded the large subunit of RNA Polymerase II and found that early but not late somatic transcription is required for survival and that germline transcription does not affect survival. Expression analysis revealed that thousands of genes are continuously transcribed in the soma, though their absolute abundance declines, while the germ line is transcriptionally quiescent with extreme transcript stability. This work reveals alternative somatic and germline gene-regulatory strategies during starvation, with the soma relying on a robust transcriptional response to support immediate survival while the germ line relies on transcriptional quiescence and mRNA stability to maintain future reproductive success.

genetics↗

DAF-18/PTEN inhibits germline zygotic gene activation during primordial germ cell quiescence

Quiescence, an actively-maintained reversible state of cell cycle arrest, is not well understood. PTEN is one of the most frequently lost tumor suppressors in human cancers and regulates quiescence of stem cells and cancer cells. In C. elegans mutant for daf-18, the sole C. elegans PTEN ortholog, primordial germ cells (PGCs) divide inappropriately in starvation conditions, in a TOR-dependent manner. Here, we further investigated the role of daf-18 in maintaining PGC quiescence. We found that maternal or zygotic daf-18 is sufficient to maintain cell cycle quiescence, that daf-18 acts in the germ line and soma, and that daf-18 affects timing of PGC divisions in fed animals. Importantly, our results also implicate daf-18 in zygotic germline gene activation, though not in germline fate specification. However, TOR is less important to zygotic germline gene expression, suggesting that in the absence of food daf-18/PTEN prevents inappropriate germline zygotic gene activation and cell division by distinct mechanisms.

developmental biology↗

Balancing selection maintains ancient genetic diversity in C. elegans

Across diverse taxa, selfing species have evolved independently from outcrossing species thousands of times. The transition from outcrossing to selfing significantly decreases the effective population size, effective recombination rate, and heterozygosity within a species. These changes lead to a reduction in genetic diversity, and therefore adaptive potential, by intensifying the effects of random genetic drift and linked selection. Within the nematode genus Caenorhabditis, selfing has evolved at least three times and all three species, including in the model organism Caenorhabditis elegans, show substantially reduced genetic diversity relative to outcrossing species. Selfing and outcrossing Caenorhabditis species are often found in the same niches, but we still do not know how selfing species with limited genetic diversity can adapt to these environments. Here, we examine the whole-genome sequences from 609 wild C. elegans strains isolated worldwide and show that genetic variation is concentrated in punctuated hyper-divergent regions that cover 20% of the C. elegans reference genome. These regions are enriched in environmental response genes that mediate sensory perception, pathogen response, and xenobiotic stress response. Population genomic evidence suggests that genetic diversity in these regions has been maintained by long-term balancing selection. Using long-read genome assemblies for 15 wild strains, we show that hyper-divergent haplotypes contain unique sets of genes and show levels of divergence comparable to levels found between Caenorhabditis species that diverged millions of years ago. These results provide an example for how species can avoid the evolutionary "dead end" associated with selfing.

evolutionary biology↗

Population selection and sequencing of C. elegans wild isolates identifies a region on chromosome III affecting starvation resistance

To understand the genetic basis of complex traits, it is important to be able to efficiently phenotype many genetically distinct individuals. In the nematode Caenorhabditis elegans, individuals have been isolated from diverse populations around the globe and whole-genome sequenced. As a result, hundreds of wild strains with known genome sequences can be used for genome-wide association studies (GWAS). However, phenotypic analysis of these strains can be laborious, particularly for quantitative traits requiring multiple measurements per strain. Starvation resistance is likely a fitness-proximal trait for nematodes, and it is related to metabolic disease risk in humans. However, natural variation in C. elegans starvation resistance has not been characterized, and precise measurement of the trait is time-intensive. Here, we developed a population selection and sequencing-based approach to phenotype starvation resistance in a pool of 96 wild strains. We used restriction site-associated DNA sequencing (RAD-seq) to infer the frequency of each strain among survivors in a mixed culture over time during starvation. We used manual starvation survival assays to validate the trait data, confirming that strains that increased in frequency over time are starvation-resistant relative to strains that decreased in frequency. These results document natural variation in starvation resistance. Further, we found that variation in starvation resistance is significantly associated with variation at a region on chromosome III. Using a near-isogenic line (NIL), we showed the importance of this genomic interval for starvation resistance. This study demonstrates the feasibility of using population selection and sequencing in an animal model for phenotypic analyses of quantitative traits, reveals natural variation of starvation resistance in C. elegans, and identifies a genomic region that contributes to such variation.

genetics↗

Dauer diapause has transgenerational effects on starvation survival and gene expression plasticity

Phenotypic plasticity is facilitated by epigenetic regulation, and remnants of such regulation may persist after plasticity-inducing cues are gone. However, the relationship between plasticity and transgenerational epigenetic memory is not understood. Dauer diapause in Caenorhabditis elegans provides an opportunity to determine how a plastic response to the early-life environment affects traits later in life and in subsequent generations. We report that after extended diapause, post-dauer worms initially exhibit reduced reproductive success and greater inter-individual variation. In contrast, F3 progeny of post-dauers display increased starvation resistance and lifespan, revealing potentially adaptive transgenerational effects. Transgenerational effects are dependent on the duration of diapause, indicating an effect of extended starvation. In agreement, RNA-seq demonstrates a transgenerational effect on nutrient-responsive genes. Further, post-dauer F3 progeny exhibit reduced gene expression plasticity, suggesting a trade-off between plasticity and epigenetic memory. This work reveals complex effects of nutrient stress over different time scales in an animal that evolved to thrive in feast and famine.

evolutionary biology↗

Intergenerational effects of dietary restriction on insulin/IGF signaling and reproductive development

The roundworm C. elegans transiently arrests larval development to survive extended starvation (1), but such early-life starvation reduces reproductive success (2, 3). Maternal dietary restriction (DR) buffers progeny from starvation, increasing reproductive success (4). It is unknown why early-life starvation decreases reproductive success and how maternal diet modifies this process. We show here that extended starvation in first-stage (L1) larvae followed by unrestricted feeding results in a variety of abnormalities in the reproductive system, including glp-1/Notch-sensitive germ-cell tumors and uterine masses that express neuronal and epidermal markers. We found that maternal DR reduces the penetrance of starvation-induced abnormalities, including tumors. Furthermore, we show that maternal DR reduces insulin/IGF signaling (IIS) in progeny, and that daf-16/FoxO and skn-1/Nrf, transcriptional effectors of IIS, are required in progeny for maternal DR to suppress abnormalities. daf-16/FoxO activity in somatic tissues is sufficient to suppress starvation-induced abnormalities, suggesting cell-nonautonomous regulation of reproductive system development. This work reveals complex inter- and intra-generational effects of nutrient availability mediated by IIS with consequences on developmental integrity and reproductive success.\n\nOne Sentence SummaryIntergenerational effects of diet on IIS

developmental biology↗

Pervasive positive and negative feedback regulation of insulin like signaling in Caenorhabditis elegans

The C. elegans insulin-like signaling network supports homeostasis and developmental plasticity. The genome encodes 40 insulin-like peptides and one receptor. Feedback regulation has been reported, but the extent of feedback and its effect on signaling dynamics during a state transition has not been determined. We measured mRNA expression for each insulin-like peptide, the receptor daf-2, components of the PI3K pathway, and its transcriptional effectors daf-16/FoxO and skn-1/Nrf at high temporal resolution during transition from a starved, quiescent state to a fed, growing state in wild type and mutants affecting daf-2/InsR and daf-16/FoxO. We also analyzed the effect of temperature on insulin-like gene expression. We found that numerous PI3K pathway components and insulin-like peptides are affected by signaling activity, revealing pervasive positive and negative feedback regulation. Reporter gene analysis demonstrated that the daf-2/InsR agonist daf-28 positively regulates its own expression and that other agonists cross-regulate daf-28 transcription through feedback. Our results show that feedback regulation of insulin-like signaling is widespread, suggesting a critical role of feedback in signaling dynamics in this endocrine network and likely others.

genetics↗

Perception of environmental polypeptides in C. elegans activates insulin/IGF signaling and alters lipid metabolism

Food perception affects animal physiology in complex ways. We uncoupled the effects of food perception and ingestion in the roundworm C. elegans. Perception was not sufficient to promote development, but larvae exposed to food without ingestion failed to develop upon return to normal culture conditions. Inhibition of gene expression during perception rescued subsequent development, demonstrating the response to perception without feeding is deleterious. Perception altered DAF-16/FOXO localization, reflecting activation of insulin/IGF signaling (IIS). The insulin-like peptide daf-28 was specifically required, suggesting perception in chemosensory neurons directly regulates peptide secretion. Gene expression and Nile Red staining suggest that perception alters lipid metabolism. Environmental polypeptides are sensed by starved larvae and promote dauer diapause recovery. We conclude that polypeptides are perceived as a food-associated cue, initiating a signaling and gene regulatory cascade that alters metabolism in anticipation of feeding and development, but that this response is detrimental if feeding does not occur.

developmental biology↗