Stephan Baehr, Wei-Chin Ho, Samuel Perez, Alyssa Cenzano, Katelyn Hancock, Lea Patrick, Adalyn Brown, Samuel Miller, Michael Lynch
{"title":"Consideration of a Liquid Mutation-Accumulation Experiment to Measure Mutation Rates by Successive Serial Dilution.","authors":"Stephan Baehr, Wei-Chin Ho, Samuel Perez, Alyssa Cenzano, Katelyn Hancock, Lea Patrick, Adalyn Brown, Samuel Miller, Michael Lynch","doi":"10.1093/gbe/evaf049","DOIUrl":"10.1093/gbe/evaf049","url":null,"abstract":"<p><p>The mutation-accumulation (MA) experiment is a fixture of evolutionary biology, though its execution is laborious. MA experiments typically take between months and years to acquire sufficient mutations to measure DNA mutation rates and mutation spectra. MA experiments for many organisms rely on colony formation on agar plates and repetitive streaking, an environment which at first glance appears somewhat contrived, a poor imitation of actual environmental living conditions. We propose that a fully liquid-phase MA experiment may at times more accurately reflect the environment of an organism. We note also that whereas automation of streaking plates is a daunting prospect, automation of liquid handling, and serial dilution is already commonplace. In principle, this type of MA experiment can be automated so as to reduce the human capital requirements of measuring mutation rates. We demonstrate that a liquid MA recapitulates the mutation rate estimated for MMR-E. coli in liquid LB culture vs. plate Lysogeny Broth culture. We detect a modified mutation spectrum with a transition skew of 4.7:1 of A:T→G:C vs. G:C→A:T mutations, highlighting the potential role of tautomerization as a mechanism of DNA mutation.</p>","PeriodicalId":12779,"journal":{"name":"Genome Biology and Evolution","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11973482/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143633941","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Genome-wide temporal gene expression reveals a post-reproductive shift in the nematode C. briggsae.","authors":"Wouter van den Berg, Bhagwati P Gupta","doi":"10.1093/gbe/evaf057","DOIUrl":"https://doi.org/10.1093/gbe/evaf057","url":null,"abstract":"<p><p>The nematodes Caenorhabditis briggsae and its well-known cousin Caenorhabditis elegans offer many features for comparative investigations of genetic pathways that affect physiological processes. Reproduction is one such process that directly impacts longevity due to its significant energetic demands. To study gene expression changes during reproductive and post-reproductive phases in both these nematodes, we conducted whole-genome transcriptome profiling at various adult stages. The results revealed that the majority of differentially expressed (DE) genes were downregulated during the reproductive period in both species. Interestingly, in C. briggsae, this trend reversed during post-reproduction, with three-quarters of the DE genes becoming upregulated. Additionally, a smaller set of DE genes showed an opposite expression trend, i.e., upregulation followed by post-reproductive downregulation. Overall, we termed this phenomenon the 'post-reproductive shift'. In contrast, the post-reproductive shift was much less pronounced in C. elegans. In C. briggsae, DE genes were enriched in processes related to the matrisome, muscle development and function during the reproductive period. Post-reproductive downregulated genes were enriched in DNA damage repair, stress response, and immune response. Additionally, terms related to fatty acid metabolism, catabolism, and transcriptional regulation exhibited complex patterns. Experimental manipulations in C. briggsae to affect their reproductive status predictably altered gene expression, providing in vivo support for the post-reproductive shift. Overall, our study reveals novel gene expression patterns during reproductive and post-reproductive changes in C. briggsae. The data provide a valuable resource for cross-sectional comparative studies in nematodes and other animal models to understand evolution of genetic pathways affecting reproduction and aging.</p>","PeriodicalId":12779,"journal":{"name":"Genome Biology and Evolution","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143763752","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Ellie E Armstrong, Sarah B Carey, Alex Harkess, Gabriele Zenato Lazzari, Katherine A Solari, Jesús E Maldonado, Robert C Fleischer, Neel Aziz, Patricia Walsh, Klaus-Peter Koepfli, Eduardo Eizirik, Dmitri A Petrov, Michael G Campana
{"title":"Parameterizing Pantherinae: de novo mutation rate estimates from Panthera and Neofelis pedigrees.","authors":"Ellie E Armstrong, Sarah B Carey, Alex Harkess, Gabriele Zenato Lazzari, Katherine A Solari, Jesús E Maldonado, Robert C Fleischer, Neel Aziz, Patricia Walsh, Klaus-Peter Koepfli, Eduardo Eizirik, Dmitri A Petrov, Michael G Campana","doi":"10.1093/gbe/evaf060","DOIUrl":"https://doi.org/10.1093/gbe/evaf060","url":null,"abstract":"<p><p>Estimates of de novo mutation rates are essential for phylogenetic and demographic analyses, but their inference has previously been impeded by high error rates in sequence data and uncertainty in the fossil record. Here, we directly estimate de novo germline mutation rates for all extant members of Panthera, as well as the closely related outgroup Neofelis nebulosa, using pedigrees. We use a previously validated pipeline (RatesTools) to calculate mutation rates for each species and subsequently explore the impacts of the novel rates on historic effective population size estimates in each of these charismatic felids of conservation concern. Importantly, we find that the choice of reference genome, the data type and coverage, and the individual all impact estimates of the mutation rate, but these can be largely ameliorated through extensive manual curation. Despite these stochastic effects, manual validation of de novo mutation candidates permitted the reliable inference of pantherine mutation rates. We inferred that base pair mutation rates for all species fell between 3.6 × 10-9 and 7.6 × 10-9 per generation per base pair (mean 5.5 × 10-9 ± 1.7 × 10-9 across Pantherinae at a mean parental age of 5.5 years). Similar to other studies, we show a positive trend of mean parental age with mutation rate and our inferred rates are well within the expected range for other mammals.</p>","PeriodicalId":12779,"journal":{"name":"Genome Biology and Evolution","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143763756","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Repeated evolution of transcript dosage compensation of independently formed nematode neo-X chromosomes.","authors":"Jiachen Li, Siliang Song, Jianzhi Zhang","doi":"10.1093/gbe/evaf061","DOIUrl":"https://doi.org/10.1093/gbe/evaf061","url":null,"abstract":"<p><p>Ohno proposed that, during the origin of X/Y sex chromosomes from a pair of autosomes, X-linked genes must double their per-allele expressions to compensate for the degeneration of their Y homologs. Whether Ohno's hypothesis holds in the nematode Caenorhabditis elegans remains unresolved despite that C. elegans is a model for studying between-sex X chromosome dosage compensation. Genome sequencing revealed independent fusions of an ancestrally autosomal linkage group to the X chromosome in C. elegans and Brugia malayi, two species belonging to different suborders of the order Rhabditida, allowing testing Ohno's hypothesis in repeated origins of neo-X chromosomes from the same autosomal linkage group. For each C. elegans X-linked gene and its autosomal ortholog in Pristionchus pacificus, we computed the X:AA ratio in transcript level and observed a median of approximately 1. The same is true for B. malayi X-linked genes when compared with their autosomal orthologs in Dirofilaria immitis. We find a significant enrichment of presumably dosage-sensitive transcription factor genes among the autosomal genes of P. pacificus (or D. immitis) that become X-linked in C. elegans (or B. malayi), but the results are mixed for other groups of presumably dosage-sensitive genes, providing a partial support to the hypothesis that X upregulation depends on the prevalence of dosage-sensitive genes in the proto-X. We conclude that, unlike the virtual absence of X upregulation at the transcript level in eutherian mammals, Ohno's hypothesis is strongly supported in both nematode lineages investigated.</p>","PeriodicalId":12779,"journal":{"name":"Genome Biology and Evolution","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143763888","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Samuel C Andrew, Rosalie J Harris, Chris Coppin, Adrienne B Nicotra, Andrea Leigh, Karel Mokany
{"title":"Transcriptomic temperature stress responses show differentiation between biomes for diverse plants.","authors":"Samuel C Andrew, Rosalie J Harris, Chris Coppin, Adrienne B Nicotra, Andrea Leigh, Karel Mokany","doi":"10.1093/gbe/evaf056","DOIUrl":"https://doi.org/10.1093/gbe/evaf056","url":null,"abstract":"<p><p>Plants are foundational to terrestrial ecosystems and because they are sessile, are particularly reliant on physiological plasticity to respond to weather extremes. However, variation in conserved transcriptomic responses to temperature extremes are not well described across plants from contrasting environments. Beyond molecular responses, photosystem II (PSII) thermal tolerance traits are widely used to assay plant thermal tolerance. To explore options for improving the prediction of thermal tolerance capacity we investigated variation in the transcriptomic stress responses of 20 native Australian plants species from varied environments, using de novo transcriptome assemblies and 188 RNA-seq libraries. We documented gene expression responses for biological processes, to both hot and cold temperature treatments, that were consistent with conserved transcriptomic stress responses seen in model species. The pathways with the most significant responses were generally related to signalling and stress responses. The magnitude of some responses showed differentiation between the species from contrasting arid, alpine and temperate biomes. This variation among biomes indicated that post heat exposure, alpine and temperate species had greater shifts in expression than arid species and alpine species had weaker responses to the cold treatment. Changes in the median expression of biological processes were also compared to plasticity in PSII heat and cold tolerance traits. Gene expression responses showed some expected relationships with PSII thermal tolerance plasticity, but these two response types appeared to be mostly independent. Our findings demonstrate the potential for using variation in conserved transcriptomic traits to characterize the sensitivity of plants from diverse taxa to temperature extremes.</p>","PeriodicalId":12779,"journal":{"name":"Genome Biology and Evolution","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143700248","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Lisa Mettrop, Anna Lipzen, Celine Vandecasteele, Camille Eché, Anaïs Labécot, Kerrie Barry, Igor V Grigoriev, Gwenaël Piganeau, Marc Krasovec
{"title":"Low Mutation Rate and Atypical Mutation Spectrum in Prasinoderma coloniale: Insights From an Early Diverging Green Lineage.","authors":"Lisa Mettrop, Anna Lipzen, Celine Vandecasteele, Camille Eché, Anaïs Labécot, Kerrie Barry, Igor V Grigoriev, Gwenaël Piganeau, Marc Krasovec","doi":"10.1093/gbe/evaf026","DOIUrl":"10.1093/gbe/evaf026","url":null,"abstract":"<p><p>Mutations are the ultimate source of genetic diversity on which natural selection and genetic drift act, playing a crucial role in evolution and long-term adaptation. At the molecular level, the spontaneous mutation rate (µ), defined as the number of mutations per base per generation, thus determines the adaptive potential of a species. Through a mutation accumulation experiment, we estimate the mutation rate and spectrum in Prasinoderma coloniale, a phytoplankton species from an early-branching lineage within the Archaeplastida, characterized by an unusually high genomic guanine-cytosine (GC) content (69.8%). We find that P. coloniale has a very low total mutation rate of µ = 2.00 × 10-10. The insertion-deletion mutation rate is almost 5 times lesser than the single nucleotide mutation rate with µID = 3.40 × 10-11 and µSNM = 1.62 × 10-10. Prasinoderma coloniale also exhibits an atypical mutational spectrum: While essentially all other eukaryotes show a bias toward GC to AT mutations, no evidence of this AT-bias is observed in P. coloniale. Since cytosine methylation is known to be mutagenic, we hypothesized that this may result from an absence of C-methylation. Surprisingly, we found high levels of C-methylation (14% in 5mC, 25% in 5mCG contexts). Methylated cytosines did not show increased mutation rates compared with unmethylated ones, not supporting the prevailing notion that C-methylation universally leads to higher mutation rates. Overall, P. coloniale combines a GC-rich genome with a low mutation rate and original mutation spectrum, suggesting the almost universal AT-bias may not have been present in the ancestor of the green lineage.</p>","PeriodicalId":12779,"journal":{"name":"Genome Biology and Evolution","volume":"17 3","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11884799/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143572791","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Pervasive Mitochondrial tRNA Gene Loss in Clade B of Haplosclerid Sponges (Porifera, Demospongiae).","authors":"Dennis V Lavrov, Thomas L Turner, Jan Vicente","doi":"10.1093/gbe/evaf020","DOIUrl":"10.1093/gbe/evaf020","url":null,"abstract":"<p><p>Mitochondrial tRNA gene loss and cytosolic tRNA import are two common phenomena in mitochondrial biology, but their importance is often under-appreciated in animals. This is because the mitochondrial DNA (mtDNA) of most bilaterally symmetrical animals (Bilateria) encodes a complete set of tRNAs required for mitochondrial translation. By contrast, the mtDNA of nonbilaterian animals (phyla Cnidaria, Ctenophora, Porifera, and Placozoa) often contains a reduced set of tRNA genes, necessitating tRNA import from the cytosol. Interestingly, in many nonbilaterian lineages, tRNA gene content appears to be set early in evolution and remains conserved thereafter. Here, we report that Clade B of haplosclerid sponges (CBHS) represents an exception to this pattern, displaying considerable variation in tRNA gene content even among relatively closely related species. We determined mt-genome sequences for eight CBHS species and analyzed them in conjunction with six previously available sequences. Additionally, we sequenced mt-genomes for two species of haplosclerid sponges outside the CBHS and used them with eight previously available sequences as outgroups. We found that tRNA gene content varied widely within CBHS, ranging from three in an undescribed Haliclona species (Haliclona sp. TLT785) to 25 in Xestospongia muta and X. testudinaria. Furthermore, we found that all CBHS species outside the genus Xestospongia lacked the atp9 gene, with some also lacking atp8. Analysis of nuclear sequences from Niphates digitalis revealed that both atp8 and atp9 had transferred to the nuclear genome, while the absence of mt-tRNA genes indicated their genuine loss. We argue that CBHS can serve as a valuable system for studying mt-tRNA gene loss, mitochondrial import of cytosolic tRNAs, and the impact of these processes on mitochondrial evolution.</p>","PeriodicalId":12779,"journal":{"name":"Genome Biology and Evolution","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11886574/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143364429","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Correction to: Chromosome-Level Genome Assembly and Annotation of Corallium rubrum: A Mediterranean Coral Threatened by Overharvesting and Climate Change.","authors":"","doi":"10.1093/gbe/evaf036","DOIUrl":"10.1093/gbe/evaf036","url":null,"abstract":"","PeriodicalId":12779,"journal":{"name":"Genome Biology and Evolution","volume":"17 3","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11891867/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143585524","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Evolution of Plant Conserved microRNAs After Whole-Genome Duplications.","authors":"Liuyu Qin, Peng Xu, Yuannian Jiao","doi":"10.1093/gbe/evaf045","DOIUrl":"10.1093/gbe/evaf045","url":null,"abstract":"<p><p>MicroRNAs (miRNAs) are a specialized class of small silencing RNAs that regulate gene expression in numerous biological processes in eukaryotes. While the evolutionary dynamics of protein-coding genes after plant whole-genome duplications (WGDs) has been extensively studied, the patterns of evolution for conserved MIRNAs (miRNA genes) post-WGDs are less understood. In this study, we systematically investigated miRNAs and their targets in 6 plant species with varying WGD histories. Our findings reveal that WGDs significantly contribute to the expansion of conserved miRNA families. Notably, through homologous analyses of conserved miRNA families, we discovered that beyond the loci derived from WGDs and other duplication events, some conserved miRNA families have independently gained new loci and/or lost syntenic loci in specific lineage or species through evolution. Additionally, our analyses of sequence divergence in conserved miRNAs showed that the mature sequences of miRNA duplicates gradually diverge following WGDs, with this sequence divergence being correlated with that of their adjacent protein-coding genes after recent WGDs. Furthermore, expression and functional divergence analyses of duplicated targets in different miRNA-target interaction scenarios suggest that conserved miRNAs may play crucial roles in regulating the expression of duplicated genes and related regulatory networks following WGDs. In summary, our analyses reveal universal evolutionary patterns of plant conserved miRNAs following WGDs and provide evidence that some miRNA copies in conserved families originated independently during evolution.</p>","PeriodicalId":12779,"journal":{"name":"Genome Biology and Evolution","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11932082/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143582275","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Sarah Schmid, Diego A Hartasánchez, Wan-Ting Huang, Ashton Gainsford, Geoffrey P Jones, Nicolas Salamin
{"title":"Genomic Architecture of the Clownfish Hybrid Amphiprion leucokranos.","authors":"Sarah Schmid, Diego A Hartasánchez, Wan-Ting Huang, Ashton Gainsford, Geoffrey P Jones, Nicolas Salamin","doi":"10.1093/gbe/evaf031","DOIUrl":"10.1093/gbe/evaf031","url":null,"abstract":"<p><p>Natural hybridization is increasingly recognized as playing a significant role in species diversification and adaptive evolution. Amphiprion leucokranos, the naturally occurring clownfish hybrid between Amphiprion chrysopterus and Amphiprion sandaracinos, is found within the hybrid zone of the two parental species. Based on whole-genome sequencing of parental and hybrid individuals sampled in Kimbe Bay, Papua New Guinea, we found that most of the hybrids collected were first-generation hybrids, a few were first- and second-generation backcrosses with A. sandaracinos, and the first evidence, to our knowledge, of both an early backcross with A. chrysopterus and a second-generation hybrid in the wild, highlighting the richness and diversity of genomic architectures in this hybrid zone. The frequent backcrossing with A. sandaracinos has led to higher levels of introgression from A. chrysopterus into the A. sandaracinos genomic background, potentially allowing for adaptive introgression. We have additionally identified morphological features which could potentially allow differentiating between first-generation hybrids and backcrosses. By comparing population genetic statistics of first-generation hybrids, backcrosses, parental populations within the hybrid zone, and parental allopatric populations, we provide the context to evaluate population differentiation and the consequences of ongoing hybridization. This study is the first whole-genome analysis of a clownfish hybrid population and builds upon the growing body of literature relative to the evolutionary outcomes of hybridization in the wild and its importance in evolution.</p>","PeriodicalId":12779,"journal":{"name":"Genome Biology and Evolution","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11926594/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143556677","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}