0000000001301358

AUTHOR

Markus Pfenninger

showing 53 related works from this author

Reliability of genomic variants across different next-generation sequencing platforms and bioinformatic processing pipelines

2021

Abstract Background Next Generation Sequencing (NGS) is the fundament of various studies, providing insights into questions from biology and medicine. Nevertheless, integrating data from different experimental backgrounds can introduce strong biases. In order to methodically investigate the magnitude of systematic errors in single nucleotide variant calls, we performed a cross-sectional observational study on a genomic cohort of 99 subjects each sequenced via (i) Illumina HiSeq X, (ii) Illumina HiSeq, and (iii) Complete Genomics and processed with the respective bioinformatic pipeline. We also repeated variant calling for the Illumina cohorts with GATK, which allowed us to investigate the e…

Aginglcsh:QH426-470lcsh:BiotechnologyLongevity610 MedizinGATK ; Next-generation sequencing (NGS) technologies ; Illumina ; Longevity ; Complete genomics ; Healthy aging ; Wellderly ; Aging ; Platform-biasesPlatform-biasesPolymorphism Single Nucleotide570 Life sciencesIlluminaNext-generation sequencing (NGS) technologieslcsh:TP248.13-248.65610 Medical sciences620 Engineering and allied operationsHumansComputational BiologyHigh-Throughput Nucleotide SequencingReproducibility of ResultsGATKGenomicsPhysik (inkl. Astronomie)620 Ingenieurwissenschaften und MaschinenbauWellderlylcsh:GeneticsCross-Sectional StudiesHealthy agingComplete genomics570 BiowissenschaftenResearch Article
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Temperature dependence of spontaneous mutation rates.

2021

Mutation is the source of genetic variation and the fundament of evolution. Temperature has long been suggested to have a direct impact on realized spontaneous mutation rates. If mutation rates vary in response to environmental conditions, such as the variation of the ambient temperature through space and time, they should no longer be described as species-specific constants. By combining mutation accumulation with whole-genome sequencing in a multicellular organism, we provide empirical support to reject the null hypothesis of a constant, temperature-independent mutation rate. Instead, mutation rates depended on temperature in a U-shaped manner with increasing rates toward both temperature…

Mutation rateTemperatureMutation AccumulationBiologyEvolution MolecularMutation AccumulationMutation RateMolecular evolutionEvolutionary biologyGenetic variationMutation (genetic algorithm)MutationGeneticsSpontaneous mutationGenetics (clinical)Genome research
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Genomic basis of drought resistance inFagus sylvatica

2020

In the course of global climate change, central Europe is experiencing more frequent and prolonged periods of drought. These drought events have severe and detrimental impacts on the forest ecosystem. The drought years 2018 and 2019 affected European beeches (Fagus sylvatica L.) in noticeably different ways: even in the same local stand, badly drought damaged trees immediately neighboured apparently healthy trees. This led to the hypothesis that the genotype rather than the environment was responsible for this conspicuous pattern. We used this natural experiment to study the genomic basis of drought resistance in a Pool-GWAS approach. Contrasting the extreme phenotypes, we identified 106 si…

Genetic diversityNatural selectionbiologyFagus sylvaticaEcologyfungiForest ecologyGlobal warmingGenotypefood and beveragesClimate changebiology.organism_classificationBeech
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Whole-Genome Re-Sequencing Data to Infer Historical Demography and Speciation Processes in Land Snails: the Study of Two Candidula Sister Species

2021

Despite the global biodiversity of terrestrial gastropods and their ecological and economic importance, the genomic basis of ecological adaptation and speciation in land snail taxa is still largely unknown. Here, we combined whole-genome re-sequencing with population genomics to evaluate the historical demography and the speciation process of two closely related species of land snails from western Europe, Candidula unifasciata and C. rugosiuscula. Historical demographic analysis indicated fluctuations in the size of ancestral populations, probably driven by Pleistocene climatic fluctuations. Although the current population distributions of both species do not overlap, our approximate Bayesi…

Candidula unifasciatabiologywhole-genome re-sequencingDemographic historyGastropodaCandidulaReproductive isolationbiology.organism_classificationdemographic historyGeneral Biochemistry Genetics and Molecular BiologyEcological speciationGene flowPopulation genomicsapproximate Bayesian computationEvolutionary biologyGenetic algorithmecological speciationGeneral Agricultural and Biological Sciencesgene flow
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Measuring mutagenicity in ecotoxicology: A case study of Cd exposure in Chironomus riparius

2020

AbstractExisting mutagenicity tests for metazoans lack the direct observation of enhanced germline mutation rates after exposure to anthropogenic substances, therefore being inefficient. Cadmium (Cd) is a metal described as a mutagen in mammalian cells and listed as a group 1 carcinogenic and mutagenic substance. But Cd mutagenesis mechanism is not yet clear. Therefore, in the present study, we propose a method coupling short-term mutation accumulation (MA) lines with subsequent whole genome sequencing (WGS) and a dedicated data analysis pipeline to investigate if chronic Cd exposure on Chironomus riparius can alter the rate at which de novo point mutations appear. Results show that Cd expo…

Chironomus ripariusGeneticsved/biologyPoint mutationMutagenesisved/biology.organism_classification_rank.speciesfood and beveragesMutagenBiologyMutation Accumulationmedicine.disease_causeGermline mutationmedicineEcotoxicologyCarcinogen
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De novogenome assembly of the land snailCandidula unifasciata(Mollusca: Gastropoda)

2021

AbstractAmong all molluscs, land snails are an economically and scientifically interesting group comprising edible species, alien species and agricultural pests. Yet, despite its high diversity, the number of whole genomes publicly available is still scarce. Here, we present the draft genome assembly of the land snailCandidula unifasciata, a widely distributed species along central Europe, which belongs to Geomitridae family, a group highly diversified in the Western-Palearctic region. We performed a whole genome sequencing, assembly and annotation of an adult specimen based on PacBio and Oxford Nanopore long read sequences as well as Illumina data. A genome of about 1.29 Gb was generated w…

Whole genome sequencingCandidula unifasciataeducation.field_of_studybiologyPopulationLand snailSequence assemblySnailbiology.organism_classificationGenomeEvolutionary biologybiology.animaleducationGene
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Establishing laboratory cultures and performing ecological and evolutionary experiments with the emerging model speciesChironomus riparius

2019

Chironomus riparius is a well‐established model organism in various fields such as ecotoxicology and ecology, and therefore, environmental preferences, ecological interactions and metabolic traits are well‐studied. With the recent publication of a high‐quality draft genome, as well as different population genetic parameters such as mutation and recombination rate, the species can be used as an alternative to the Drosophila models in experimental population genomics or molecular ecology. To facilitate access to this promising experimental model species for a wider range of researchers, we describe experimental methods to first create and sustain long‐term cultures of C. riparius and then use…

0106 biological sciencesChironomus ripariusExperimental evolutioneducation.field_of_studyEcologyved/biologyEcology (disciplines)ved/biology.organism_classification_rank.speciesPopulationBiologybiology.organism_classification010603 evolutionary biology01 natural sciencesMolecular ecologyPopulation genomics010602 entomologyInsect ScienceChironomusModel organismeducationAgronomy and Crop ScienceJournal of Applied Entomology
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Temperature-dependence of spontaneous mutation rates

2020

Mutation is the source of genetic variation and the fundament of evolution. At the interphase of ecology and evolution, temperature has long been suggested to have a direct impact on realised spontaneous mutation rates. The question is whether mutation rates can be a species-specific constant under variable environmental conditions, such as variation of the ambient temperature. By combining mutation accumulation with whole genome sequencing in a multicellular organism, we provide empirical support to reject this null hypothesis. Instead mutation rates depend on temperature in a U-shaped manner with increasing rates towards both temperature extremes. This relation has important implications …

Whole genome sequencingMutation rateMulticellular organismEvolutionary biologyMolecular evolutionGenetic variationMutation (genetic algorithm)Evolutionary ecologyBiologyMutation Accumulation
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Genomic divergence landscape in recurrently hybridizing Chironomus sister taxa suggests stable steady state between mutual gene flow and isolation

2021

Abstract Divergence is mostly viewed as a progressive process often initiated by selection targeting individual loci, ultimately resulting in ever increasing genomic isolation due to linkage. However, recent studies show that this process may stall at intermediate stable equilibrium states without achieving complete genomic isolation. We tested the extent of genomic isolation between two recurrently hybridizing nonbiting midge sister taxa, Chironomus riparius and Chironomus piger, by analyzing the divergence landscape. Using a principal component‐based method, we estimated that only about 28.44% of the genomes were mutually isolated, whereas the rest was still exchanged. The divergence land…

islands of divergencebiologyreproductive isolationlcsh:EvolutionIntrogressionReproductive isolationbiology.organism_classificationGene flowDivergenceNegative selectionddc:580ddc:590Sister groupEffective population sizespeciationEvolutionary biologyddc:570Geneticslcsh:QH359-425ChironomusEcology Evolution Behavior and SystematicsAdmixture inferenceEvolution Letters
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Utility of island populations in re-introduction programmes--relationships between Arabian gazelles (Gazella arabica) from the Farasan Archipelago an…

2014

Understanding local adaptation and population differentiation is vital to the success of re-introduction initiatives. As other mammals living on islands, Arabian gazelles (G. arabica) show reduced body size on the Farasan archipelago, which we corroborated in this study through morphometric analyses of skulls. In the light of the steep population decline on the Arabian Peninsula – but stable population development on the archipelago – we tested the potential suitability of Farasan gazelles as a source for re-introductions on the mainland. We therefore investigated genetic differentiation between Farasan and mainland populations using eleven nuclear microsatellite loci and detected a distinc…

Conservation of Natural ResourcesPopulationEndangered speciesSaudi ArabiaBiologyEvolution MolecularPeninsulaparasitic diseasesCaptive breedingGeneticsAnimalseducationEcology Evolution Behavior and SystematicsLocal adaptationIslandsPopulation Densityeducation.field_of_studygeographygeography.geographical_feature_categoryEcologyEndangered SpeciesGenetic VariationAdaptation PhysiologicalhumanitiesPopulation declineGenetics PopulationAntelopesArchipelagoMainlandgeographic locationsMicrosatellite RepeatsMolecular ecology
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The genomic footprint of climate adaptation inChironomus riparius

2017

The gradual heterogeneity of climatic factors produces continuously varying selection pressures across geographic distances that leave signatures of clinal variation in the genome. Separating signatures of clinal adaptation from signatures of other evolutionary forces, such as demographic processes, genetic drift, and adaptation to specific non-clinal conditions of the immediate local environment is a major challenge. Here, we examine climate adaptation in five natural populations of the non-biting midge Chironomus riparius sampled along a climatic gradient across Europe. Our study integrates experimental data, individual genome resequencing, Pool-Seq data, and population genetic modelling.…

0301 basic medicineCandidate geneAcclimatizationClimateClimate ChangePopulationved/biology.organism_classification_rank.speciesBiologyGenomeChironomidaeGene flow03 medical and health sciencesGenetic driftGeneticsAnimalsPopulation growthSelection GeneticEvolutionary dynamicseducationEcosystemEcology Evolution Behavior and SystematicsSelection (genetic algorithm)Local adaptationChironomus ripariuseducation.field_of_studyEcologyved/biologyGenetic DriftGenomicsAdaptation PhysiologicalEuropeGenetics Population030104 developmental biologyEvolutionary biologyAdaptation
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Chironomus riparius(Diptera) genome sequencing reveals the impact of minisatellite transposable elements on population divergence

2016

AbstractActive transposable elements (TEs) may result in divergent genomic insertion and abundance patterns among conspecific populations. Upon secondary contact, such divergent genetic backgrounds can theoretically give rise to classical Dobzhansky-Muller incompatibilities (DMI), a way how TEs can contribute to the evolution of endogenous genetic barriers and eventually population divergence. We investigated whether differential TE activity created endogenous selection pressures among conspecific populations of the non-biting midgeChironomus riparius,focussing on aChironomus-specific TE, the minisatellite-likeCla-element, whose activity is associated with speciation in the genus. Using an …

0106 biological sciences0301 basic medicineGenome Insectved/biology.organism_classification_rank.speciesPopulationGenomicsMinisatellite RepeatsBiologyPolymorphism Single Nucleotide010603 evolutionary biology01 natural sciencesGenomeChironomidaeDNA sequencingEvolution Molecular03 medical and health sciencesNegative selectionGeneticsAnimalseducationIn Situ Hybridization FluorescenceEcology Evolution Behavior and SystematicsLocal adaptationGeneticsChironomus ripariuseducation.field_of_studyPolytene chromosomeved/biologyfood and beveragesGenetics Population030104 developmental biologyMinisatelliteEvolutionary biologyDNA Transposable ElementsFemaleMolecular Ecology
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Establishing Laboratory Cultures and Performing Ecological and Evolutionary Experiments with the Emerging Model Species <em>Chironomus Riparius…

2018

Chironomus riparius is a well-established model organism in various fields such as ecotoxicology and ecology, and therefore environmental preferences, ecological interactions and metabolic traits are well-studied. With the recent publication of a high-quality draft genome, as well as different population genetic parameters such as mutation and recombination rate, the species can be used as an alternative to the Drosophila models in experimental population genomics or molecular ecology. To facilitate access to this promising experimental model species for a wider range of researchers, we describe experimental methods to first create and sustain long term cultures of C. riparius and then use …

Chironomus ripariuseducation.field_of_studyExperimental evolutionved/biologyEcologyEcology (disciplines)ved/biology.organism_classification_rank.speciesPopulationBiologyGenomeMolecular ecologyPopulation genomicseducationModel organism
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A high-quality genome assembly from short and long reads for the non-biting midge Chironomus riparius (Diptera)

2020

AbstractBackgroundChironomus riparius is of great importance as a study species in various fields like ecotoxicology, molecular genetics, developmental biology and ecology. However, only a fragmented draft genome exists to date, hindering the recent rush of population genomic studies in this species.FindingsMaking use of 50 NGS datasets, we present a hybrid genome assembly from short and long sequence reads that make C. riparius’ genome one of the most contiguous Dipteran genomes published, the first complete mitochondrial genome of the species and the respective recombination rate as one of the first insect recombination rates at all.ConclusionsThe genome and associated resources will be h…

0106 biological sciencesmedicine.medical_specialtyMitochondrial DNAEcology (disciplines)ved/biology.organism_classification_rank.speciesPopulationSequence assemblyHybrid genome assemblyQH426-470Biology010603 evolutionary biology01 natural sciencesGenomeChironomidae03 medical and health sciencesMolecular geneticschironomus ripariusGeneticsmedicineAnimalseducationMolecular BiologyGenetics (clinical)030304 developmental biologyrecombination rateChironomus riparius0303 health scienceseducation.field_of_studyGenomehybrid genome assemblyved/biologyGenome ReportEvolutionary biology
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tbg - a new file format for genomic data

2021

AbstractMotivationThe question of determining whether a Single-Nucleotide Polymorphism (SNP) or a variant in general leads to a change in the amino acid sequence of a protein coding gene is often a laborious and time-consuming challenge. Here, we introduce the tbg file format for storing genomic data and tbg-tools, a user-friendly toolbox for the faster analysis of SNPs. The file format stores information for each nucleotide in each gene, allowing to predict which change in the amino acid sequence will be caused by a variant in the nucleotide sequence. Our new tool therefore has the potential to make biological sense of the unprecedented amount of genome-wide genetic variation that research…

Computer scienceGenetic variationNucleic acid sequenceSingle-nucleotide polymorphismComputational biologyLine (text file)Python (programming language)File formatPeptide sequencecomputerToolboxcomputer.programming_language
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De novo genome assembly of the land snail Candidula unifasciata (Mollusca: Gastropoda)

2021

Abstract Among all molluscs, land snails are a scientifically and economically interesting group comprising edible species, alien species and agricultural pests. Yet, despite their high diversity, the number of genome drafts publicly available is still scarce. Here, we present the draft genome assembly of the land snail Candidula unifasciata, a widely distributed species along central Europe, belonging to the Geomitridae family, a highly diversified taxon in the Western-Palearctic region. We performed whole genome sequencing, assembly and annotation of an adult specimen based on PacBio and Oxford Nanopore long read sequences as well as Illumina data. A genome draft of about 1.29 Gb was gene…

0106 biological sciencesCandidula unifasciataAcademicSubjects/SCI01140AcademicSubjects/SCI00010repeatsPopulationSnailsSequence assemblySnailQH426-470de novo assemblyAcademicSubjects/SCI01180010603 evolutionary biology01 natural sciencesGenome03 medical and health sciencesbiology.animalland snailslong readsGeneticsAnimalseducationMolecular BiologyGeneGenetics (clinical)030304 developmental biologyWhole genome sequencingGeomitridaemolluscs0303 health scienceseducation.field_of_studyGenomebiologyLand snailMolecular Sequence AnnotationGenomicsSequence Analysis DNAbiology.organism_classificationGenome ReportannotationEvolutionary biologyAcademicSubjects/SCI00960G3: Genes|Genomes|Genetics
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Spontaneous rate of clonal mutations inDaphnia galeata

2020

AbstractMutations are the ultimate source of heritable variation and therefore the fuel for evolution, but direct estimates exist only for few species. We estimated the spontaneous nucleotide mutation rate among clonal generations in the waterfleaDaphnia galeatawith a short term mutation accumulation approach. Individuals from eighteen mutation accumulation lines over five generations were deep genome sequenced to count de novo mutations that were not present in a pool of F1 individuals, representing the parental genotype. We identified 12 new nucleotide mutations in 90 clonal generational passages. This resulted in an estimated haploid mutation rate of 0.745 x 10-9(95% c.f. 0.39 x 10-9− 1.…

GeneticsMutation ratebiologyGenotypePopulation geneticsMutation AccumulationPloidybiology.organism_classificationDaphniaGenomeDaphnia galeata
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Author response: Genomic basis for drought resistance in European beech forests threatened by climate change

2021

GeographybiologyAgroforestryDrought resistanceThreatened speciesClimate changebiology.organism_classificationBeech
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An experimental assessment of reproductive isolation and its consequences for seasonal hybridization dynamics

2018

0106 biological sciences0301 basic medicine03 medical and health sciences030104 developmental biologyEvolutionary biologyReproductive isolationBiology010603 evolutionary biology01 natural sciencesEcology Evolution Behavior and SystematicsBiological Journal of the Linnean Society
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Combining environmental DNA and species distribution modeling to evaluate reintroduction success of a freshwater fish

2019

Active species reintroduction is an important conservation tool when aiming for the restoration of biological communities and ecosystems. The effective monitoring of reintroduction success is a crucial factor in this process. Here, we used a combination of environmental DNA (eDNA) techniques and species distribution models (SDMs) to evaluate the success of recent reintroductions of the freshwater fish Alburnoides bipunctatus in central Germany. We built SDMs without and with eDNA presence data to locate further suitable reintroduction sites and potentially overlooked populations of the species. We successfully detected eDNA of A. bipunctatus at all reintroduction sites, as well as several a…

0106 biological sciencesEcologyEcology010604 marine biology & hydrobiologySpecies distributionFishesSpecies detectionFresh WaterBiologybiology.organism_classificationDNA Environmental010603 evolutionary biology01 natural sciencesAlburnoides bipunctatusWater Framework DirectiveGermanyFreshwater fishAnimalsEnvironmental DNAEcosystemEcosystemSpecies reintroductionEcological Applications
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Measuring mutagenicity in ecotoxicology: A case study of Cd exposure in Chironomus riparius.

2021

Abstract Existing mutagenicity tests for metazoans lack the direct observation of enhanced germline mutation rates after exposure to anthropogenic substances, therefore being inefficient. Cadmium (Cd) is a metal described as a mutagen in mammalian cells and listed as a group 1 carcinogenic and mutagenic substance. But Cd mutagenesis mechanism is not yet clear. Therefore, in the present study, we propose a method coupling short-term mutation accumulation (MA) lines with subsequent whole genome sequencing (WGS) and a dedicated data analysis pipeline to investigate if chronic Cd exposure on Chironomus riparius can alter the rate at which de novo point mutations appear. Results show that Cd exp…

endocrine system010504 meteorology & atmospheric sciencesHealth Toxicology and Mutagenesisved/biology.organism_classification_rank.speciesMutagen010501 environmental sciencesBiologyToxicologymedicine.disease_causeEcotoxicology01 natural sciencesChironomidaeGermline mutationmedicineAnimalsCarcinogen0105 earth and related environmental sciencesChironomus ripariusGeneticsved/biologyMutagenicity TestsPoint mutationfungiMutagenesisfood and beveragesGeneral MedicineMutation AccumulationPollutionmedicine.anatomical_structureMutagenesisGerm cellCadmiumMutagensEnvironmental pollution (Barking, Essex : 1987)
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A multigenerational approach can detect early Cd pollution in Chironomus riparius.

2020

Abstract Cadmium (Cd) is a non-essential highly toxic metal and its presence in the environment has been a concern over the years. On the present study we adopt the spiked water exposure scenario to study early Cd contamination across five generations of the model organism Chironomus riparius. Animals were, at the beginning of each generation, submitted to 0, 1, 3.2, 10, 32 and 100 μg/L of Cd. Classical endpoints like total emergence, EmT50, fertility and the integrative fitness measure, population growth rate (PGR), were calculated at each generation. Results could demonstrate that exposure to brief and low Cd concentrations can affect all the measured endpoints and, therefore, initial Cd …

PollutionEnvironmental EngineeringHealth Toxicology and Mutagenesismedia_common.quotation_subject0208 environmental biotechnologyved/biology.organism_classification_rank.specieschemistry.chemical_elementZoologyFertility02 engineering and technology010501 environmental sciencesBiology01 natural sciencesChironomidaeEnvironmental ChemistryFitness measureAnimals0105 earth and related environmental sciencesmedia_commonChironomus ripariusCadmiumved/biologyPublic Health Environmental and Occupational HealthGeneral MedicineGeneral ChemistryContaminationPollution020801 environmental engineeringFertilitychemistryLarvaThree generationsAdaptationEnvironmental PollutionWater Pollutants ChemicalCadmiumEnvironmental MonitoringChemosphere
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Genetic integrity of European wildcats: Variation across biomes mandates geographically tailored conservation strategies

2022

Hybridisation between domestic and wild taxa can pose severe threats to wildlife conservation, and human-induced hybridisation, often linked to species' introductions and habitat degradation, may promote reproductive opportunities between species for which natural interbreeding would be highly unlikely. Using a biome-specific approach, we examine the effects of a suite of ecological drivers on the European wildcat's genetic integrity, while assessing the role played by protected areas in this process. We used genotype data from 1217 putative European wildcat samples from 13 European countries to assess the effects of landcover, disturbance and legal landscape protection on the European wild…

BiomasGestión de áreas protegidasHibridaciónConservaciónFelis silvestrisHybridisationSettore BIO/05 - ZoologiaProtected area managementConservationBiomesEcology Evolution Behavior and SystematicsNature and Landscape Conservation
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De Novo Genome Assembly of the Raccoon Dog (Nyctereutes Procyonoides)

2021

The raccoon dog, Nyctereutes procyonoides (NCBI Taxonomy ID: 34880, Figure 1a) belongs to the family Canidae, with foxes (genus Vulpes) being their closest relatives (Lindblad-Toh et al., 2005; Sun et al., 2019). Its original distribution in East Asia ranges from south-eastern Siberia to northern Vietnam and the Japanese islands. In the early 20th century, the raccoon dog was introduced into Western Russia for fur breeding and hunting purposes, which led to its widespread establishment in many European countries, Figure 1b. Together with the raccoon (Procyon lotor), it is now listed in Europe as an invasive species of Union concern (Regulation (EU) No. 1143/2014) and member states are requi…

0301 basic medicinepopulation genomicsRange (biology)ZoologyB chromosomeQH426-470GenomePopulation genomics03 medical and health sciences0302 clinical medicineddc:590Data ReportGeneticsraccoon dog (nyctereutes procyonoides)IUCN Red Listmedia_common.cataloged_instanceGenetics (clinical)Syntenymedia_commonB chromosomebiologySARS-CoV-2sequencebiology.organism_classificationgenome assembly and annotationanimalsCanis lupus familiaris030104 developmental biology030220 oncology & carcinogenesisrangeMolecular MedicinecarnivoraNyctereutes procyonoides
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Positive selection in development and growth rate regulation genes involved in species divergence of the genus Radix

2015

AbstractBackgroundLife history traits like developmental time, age and size at maturity are directly related to fitness in all organisms and play a major role in adaptive evolution and speciation processes. Comparative genomic or transcriptomic approaches to identify positively selected genes involved in species divergence can help to generate hypotheses on the driving forces behind speciation. Here we use a bottom-up approach to investigate this hypothesis by comparative analysis of orthologous transcripts of four closely related EuropeanRadixspecies.ResultsSnails of the genusRadixoccupy species specific distribution ranges with distinct climatic niches, indicating a potential for natural …

ClimateSnailsZoologyLife history theorySpecies SpecificityPhylogeneticsAnimalsRNA-SeqAdaptationSelection GeneticTranscriptomicsEcosystemPhylogenyEcology Evolution Behavior and SystematicsEcological nicheMollusksNatural selectionbiologyPhylogenetic treeGene Expression ProfilingReproductive isolationbiology.organism_classificationReproductive isolationBiological EvolutionReproductive isolation ; RNA-Seq ; Transcriptomics ; Adaptive sequence evolution ; Positive selection ; Mollusks ; AdaptationPositive selectionEuropeGene Expression RegulationEvolutionary biologyAdaptationAdaptive sequence evolutionResearch ArticleRadix (gastropod)BMC Evolutionary Biology
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Rapid adaptation to high temperatures in Chironomus riparius

2018

AbstractEffects of seasonal or daily temperature variation on fitness and physiology of ectothermic organisms and their ways to cope with such variations have been widely studied. However, the way multivoltines organisms cope with temperature variations from a generation to another is still not well understood and complex to identify. The aim of this study is to investigate whether the multivoltine midgeChironomus ripariusMeigen (1803) responds mainly via acclimation as predicted by current theories, or if rapid genetic adaptation is involved. To investigate this issue, a common garden approach has been applied. A mix of larvae from five European populations was raised in the laboratory at …

0106 biological sciences0301 basic medicineved/biology.organism_classification_rank.speciesZoologyacclimation010603 evolutionary biology01 natural sciencesChironomidaeAcclimatizationChironomidaeChironomidae ; climate ; acclimation ; temperature adaptation ; developmental temperature ; ectotherm03 medical and health sciencesddc:590temperature adaptationdevelopmental temperatureclimateectothermEcology Evolution Behavior and SystematicsNature and Landscape ConservationOriginal ResearchChironomus ripariusPhenotypic plasticityEcologybiologyved/biologyEcologyMortality rateVoltinismbiology.organism_classificationBiting030104 developmental biologyEctothermMidgeAdaptation
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Evolutionary genomics can improve prediction of species' responses to climate change

2020

Abstract Global climate change (GCC) increasingly threatens biodiversity through the loss of species, and the transformation of entire ecosystems. Many species are challenged by the pace of GCC because they might not be able to respond fast enough to changing biotic and abiotic conditions. Species can respond either by shifting their range, or by persisting in their local habitat. If populations persist, they can tolerate climatic changes through phenotypic plasticity, or genetically adapt to changing conditions depending on their genetic variability and census population size to allow for de novo mutations. Otherwise, populations will experience demographic collapses and species may go ext…

eco‐evolutionary dynamicsComments and OpinionsRange (biology)Species distributionlcsh:EvolutionBiodiversityeco-evolutionary dynamics10127 Institute of Evolutionary Biology and Environmental Studiesmodelslcsh:QH359-425GeneticsComment and OpinionKeystone speciesEcology Evolution Behavior and SystematicsLocal adaptationgenomic quantitative geneticsbusiness.industryEnvironmental resource managementEnvironmental niche modellingGeographyBiodiversity loss570 Life sciences; biology590 Animals (Zoology)Biological dispersalbusinessGlobal biodiversity
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Genomic processes underlying rapid adaptation of a natural Chironomus riparius population to unintendedly applied experimental selection pressures

2020

Evolve and Resquence (E&R) studies are a useful tool to study genomic processes during rapid adaptation, e.g., in the framework of adaptive responses to global climate change. We applied different thermal regimes to a natural Chironomus riparius (Diptera) population in an E&R framework to infer its evolutionary potential for rapid thermal adaptation. We exposed two replicates to three temperatures each (14°C, 20°C and 26°C) for more than two years, the experiment thus lasting 22, 44 or 65 generations, respectively. The two higher temperatures presented a priori moderate, respectively strong selection pressures. Life-cycle fitness tests revealed no appreciable adaptation to thermal regimes b…

0106 biological sciences0301 basic medicineMultifactorial InheritanceClimate ChangePopulationved/biology.organism_classification_rank.speciesSingle-nucleotide polymorphismBiologyPolymorphism Single Nucleotide010603 evolutionary biology01 natural sciencesChironomidae03 medical and health sciencesGene FrequencyGenetic variationGeneticsAnimalsSelection GeneticeducationGeneAllele frequencyEcology Evolution Behavior and SystematicsChironomus ripariusLife Cycle Stageseducation.field_of_studyved/biologySelection coefficientTemperatureGenomicsAdaptation PhysiologicalBiological EvolutionGenetics Population030104 developmental biologyEvolutionary biologyMolecular Ecology
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Climate Change Genomics Calls for Standardized Data Reporting

2020

The advent of new and affordable high-throughput sequencing techniques allows for the investigation of the genetic basis of environmental adaptation throughout the plant and animal kingdom. The framework of genotype-environment associations (GEA) provides a powerful link by correlating the geographic distribution of genotype patterns of individuals or populations with environmental factors on a spatial scale. We coarsely review the short history of GEA studies, summarizing available studies, organisms, data type, and data availability for these studies. GEA is a powerful tool in climate change research and we therefore focus on climate variables as environmental factors. While our initial a…

0106 biological sciences0301 basic medicineCandidate geneComputer sciencemeta-anaylseslcsh:EvolutionClimate changeGenomics010603 evolutionary biology01 natural sciencesliterature survey03 medical and health sciencesDocumentationgene ontology categorylcsh:QH540-549.5lcsh:QH359-425Adaptation (computer science)environmental association analysisEcology Evolution Behavior and SystematicsGeneralityEcologyData science030104 developmental biologySpatial ecologylcsh:EcologyLiterature surveycandidate genesFrontiers in Ecology and Evolution
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Detecting Cd adaptation footprint in C. riparius with a multi-genomic approach

2021

AbstractEvolutionary processes and acquired tolerance to toxicants are important factors governing how animals respond to chemical exposure. Evidence for increased tolerance to cadmium (Cd), a widely distributed toxic metal in aquatic environments, in Chironomus riparius is conflicting and still questioned if it happens through phenotypic plasticity or genetic adaptation. The present study considered the relevance of directional environmental changes by increasing contaminant concentration in a multigenerational selection experiment. Evaluation of measurable life-cycle traits, transcriptomic responses and quantitative genetics from an evolve and resequencing (E&R) experiment were integr…

Chironomus ripariusTranscriptomeGeneticsPhenotypic plasticityved/biologyved/biology.organism_classification_rank.speciesQuantitative geneticsAdaptationBiologyIncreased toleranceGeneGenetic adaptation
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Temporal speciation pattern in the western Mediterranean genus Tudorella P. Fischer, 1885 (Gastropoda, Pomatiidae) supports the Tyrrhenian vicariance…

2009

The land snail genus Tudorella shows a peculiar disjunct distribution around the western Mediterranean coasts. Despite high phenotypic plasticity, only two species with a disputed number of subspecific taxa are currently recognised. We delimited the species with mitochondrial (COI & 16S) and nuclear (ITS-1) markers based on the unified species concept and suggested that there are eight species in the genus, two of them currently undescribed. Applying Bayesian phylogenetic model selection, we tested four different biogeographic hypotheses that could be causal for the current distribution pattern of extant Tudorella species. A scenario involving vicariance events resulting from the repeated s…

Cell NucleusPhylogenetic treeGeographyModels GeneticLand bridgeEcologyGenetic SpeciationMediterranean RegionSnailsDisjunct distributionLand snailBayes TheoremSequence Analysis DNABiologyDNA MitochondrialEvolution MolecularTaxonGenusGeneticsVicarianceBiological dispersalAnimalsMolecular BiologyEcology Evolution Behavior and SystematicsPhylogenyMolecular phylogenetics and evolution
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Little parallelism in genomic signatures of local adaptation in two sympatric, cryptic sister species.

2020

Species living in sympatry and sharing a similar niche often express parallel phenotypes as a response to similar selection pressures. The degree of parallelism within underlying genomic levels is often unexplored, but can give insight into the mechanisms of natural selection and adaptation. Here, we use multi-dimensional genomic associations to assess the basis of local and climate adaptation in two sympatric, cryptic Crematogaster levior ant species along a climate gradient. Additionally, we investigate the genomic basis of chemical communication in both species. Communication in insects is mainly mediated by cuticular hydrocarbons (CHCs), which also protect against water loss and, hence,…

0106 biological sciences0301 basic medicineSympatryClimateNicheGenome InsectAdaptation BiologicalBiology010603 evolutionary biology01 natural sciences03 medical and health sciencesddc:570AnimalsEcology Evolution Behavior and SystematicsLocal adaptationMutualism (biology)Phenotypic plasticityNatural selectionAntsBiological EvolutionHydrocarbonsAnimal CommunicationSympatry030104 developmental biologyEvolutionary biologySympatric speciationParallel evolutionJournal of evolutionary biologyREFERENCES
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Characterizing a hybrid zone between a cryptic species pair of freshwater snails.

2015

Characterizing hybrid zones and their dynamics is a central goal in evolutionary biology, but this is particularly challenging for morphologically cryptic species. The lack of conspicuous divergence between parental types means intermediate hybrid forms often go undetected. We aimed to detect and characterize a suspected hybrid zone between a pair of morphologically cryptic lineages of the freshwater snail, Radix. We sampled Radix from across a contact zone between two mitochondrial lineages (Radix balthica and an undescribed lineage termed 'MOTU3') and detected admixture between two nuclear genotype clusters, which were significantly but not categorically associated with the mitochondrial …

Species complexEcological selectionGenotypeClimate ChangeMolecular Sequence DataSnailsFresh WaterDNA MitochondrialFreshwater snailHybrid zoneGeographical distanceGenetic variationGeneticsAnimalsDNA Barcoding TaxonomicSelection GeneticEcology Evolution Behavior and SystematicsbiologyGeographyModels GeneticEcologyTemperatureGenetic VariationBayes TheoremCline (biology)biology.organism_classificationBiological EvolutionRadix balthicaHybridization GeneticMicrosatellite RepeatsMolecular ecology
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ModEst - Precise estimation of genome size from NGS data

2021

AbstractPrecise estimates of genome sizes are important parameters for both theoretical and practical biodiversity genomics. We present here a fast, easy-to-implement and precise method to estimate genome size from the number of bases sequenced and the mean sequence coverage. To estimate the latter, we take advantage of the fact that a precise estimation of the Poisson distribution parameter lambda is possible from truncated data, restricted to the part of the coverage distribution representing the true underlying distribution. With simulations we could show that reasonable genome size estimates can be gained even from low-coverage (10X), highly discontinuous genome drafts. Comparison of es…

Estimationsymbols.namesakeSequencesymbolsRange (statistics)GenomicsPoisson distributionLambdaGenomeAlgorithmGenome sizeMathematics
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Establishing Laboratory Cultures and Performing Ecological and Evolutionary Experiments with the Emerging Model Species Chironomus Riparius

2018

Chironomus riparius is a well-established model organism in various fields such as ecotoxicology and ecology, and therefore environmental preferences, ecological interactions and metabolic traits are well-studied. With the recent publication of a high-quality draft genome, as well as different population genetic parameters such as mutation and recombination rate, the species can be used as an alternative to the Drosophila models in experimental population genomics or molecular ecology. To facilitate access to this promising experimental model species for a wider range of researchers, we describe experimental methods to first create and sustain long term cultures of C. riparius and then use …

anatomy_morphology
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Additional file 6: of Positive selection in development and growth rate regulation genes involved in species divergence of the genus Radix

2015

Snail collection sites. (PDF 330 kb)

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Additional file 3: of Positive selection in development and growth rate regulation genes involved in species divergence of the genus Radix

2015

Results and figure for the climate niche divergence PCA. (PDF 14 kb)

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Additional file 1: of Positive selection in development and growth rate regulation genes involved in species divergence of the genus Radix

2015

Results of the a) sequencing effort and b) assembly statistics. (PDF 257 kb)

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Additional file 2: of Positive selection in development and growth rate regulation genes involved in species divergence of the genus Radix

2015

Phylogenetic inference on species relationships. (PDF 255 kb)

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Extended material and methods from Whole-genome re-sequencing data to infer historical demography and speciation processes in land snails: the study …

2021

Despite the global biodiversity of terrestrial gastropods and their ecological and economic importance, the genomic basis of ecological adaptation and speciation in land snail taxa is still largely unknown. Here, we combined whole-genome re-sequencing with population genomics to evaluate the historical demography and the speciation process of two closely related species of land snails from western Europe, Candidula unifasciata and C. rugosiuscula. Historical demographic analysis indicated fluctuations in the size of ancestral populations, probably driven by Pleistocene climatic fluctuations. Although the current population distributions of both species do not overlap, our approximate Bayesi…

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Table S2. from Whole-genome re-sequencing data to infer historical demography and speciation processes in land snails: the study of two Candidula sis…

2021

Genes identified in MKT test as positively selected. Given are their UniProt ID, gene names, a short functional description, their potential role in speciation and a respective citation where available. Roles in speciation are colour coded for intragenomic molecular compatibility (green), reproductive compatibility (orange) and ecological adaptation (blue). Genes that could not be specifically linked with either of these processes are highlighted in grey

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Supplemental Material for Schmidt et al., 2020

2020

Supplementary Information and Data

FOS: Biological sciences60408 Genomics
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Additional file 5: of Positive selection in development and growth rate regulation genes involved in species divergence of the genus Radix

2015

Results enrichment analyses. (XLSX 11 kb)

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Table S1: from Whole-genome re-sequencing data to infer historical demography and speciation processes in land snails: the study of two Candidula sis…

2021

Sampling localities and voucher numbers of specimens used for this study

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Additional file 4: of Positive selection in development and growth rate regulation genes involved in species divergence of the genus Radix

2015

Selected genes with annotations. (XLSX 35 kb)

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Data from: Chironomus riparius (Diptera) genome sequencing reveals the impact of minisatellite transposable elements on population divergence

2017

Active transposable elements (TEs) may result in divergent genomic insertion and abundance patterns among conspecific populations. Upon secondary contact, such divergent genetic backgrounds can theoretically give rise to classical Dobzhansky-Muller incompatibilities (DMI), thus contributing to the evolution of endogenous genetic barriers and eventually cause population divergence. We investigated differential TE abundance among conspecific populations of the non-biting midge Chironomus riparius and evaluated their potential role in causing endogenous genetic incompatibilities between these populations. We focussed on a Chironomus-specific TE, the minisatellite-like Cla-element, whose activi…

Pool-SeqChironomus ripariusendogenous selectionBLAST outputfood and beveragesgenome draftfilter duplicatesExonsgene sequencepresentLife sciencesmedicine and health careannotationinsect genomeMedicineTransposon
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Data from: Characterising a hybrid zone between a cryptic species pair of freshwater snails

2014

Characterising hybrid zones and their dynamics is a central goal in evolutionary biology, but this is particularly challenging for morphologically cryptic species. The lack of conspicuous divergence between parental types means intermediate hybrid forms often go undetected. We aimed to detect and characterise a suspected hybrid zone between a pair of morphologically cryptic lineages of the freshwater snail, Radix. We sampled Radix from across a contact zone between two mitochondrial lineages (Radix balthica and an undescribed lineage termed MOTU3) and detected admixture between two nuclear genotype clusters, which were significantly but not categorically associated with the mitochondrial li…

Europemedicine and health carecryptic speciesSpainClimate ChangePyreneesRadix balthicaMedicineprecipitation gradientFrancehybrid zoneLife sciences
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Additional file 7: of Positive selection in development and growth rate regulation genes involved in species divergence of the genus Radix

2015

Radix mt-genome primers. (XLS 36 kb)

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Additional file 8: of Positive selection in development and growth rate regulation genes involved in species divergence of the genus Radix

2015

Annotations and evolutionary models of the clusters used for phylogenetic inference. (XLSX 10 kb)

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Data from: Rapid adaptation to high temperatures in Chironomus riparius

2018

Effects of seasonal or daily temperature variation on fitness and physiology of ectothermic organisms and their ways to cope with such variations have been widely studied. However, the way multivoltines organisms cope with temperature variations from a generation to another is still not well understood and complex to identify. The aim of this study is to investigate whether the multivoltine midge Chironomus riparius Meigen (1803) responds mainly via acclimation as predicted by current theories, or if rapid genetic adaptation is involved. To investigate this issue, a common garden approach has been applied. A mix of larvae from five European populations was raised in the laboratory at three …

medicine and health caretemperature adaptationChironomus ripariusMedicinedevelopmental temperatureLife sciences
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Table S3. from Whole-genome re-sequencing data to infer historical demography and speciation processes in land snails: the study of two Candidula sis…

2021

Gene Ontology (GO) term enrichment analysis for the genes within early diverged windows (Wearly). Significantly (P < 0.05) overrepresented GO terms in the category biological process (BP). Probability values for the number of observed genes being within random expectations are based on the weight Fisher algorithm

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Data from: Utility of island populations in reintroduction programs—relationships between Arabian gazelles (Gazella arabica) from the Farasan Archipe…

2014

Understanding local adaptation and population differentiation is vital to the success of reintroduction initiatives. Like other mammals living on islands, Arabian gazelles (G. arabica) show reduced body size on the Farasan archipelago, which we corroborated in this study through morphometric analyses of skulls. In light of the steep population decline on the Arabian Peninsula—but stable population development on the archipelago—we tested the potential suitability of Farasan gazelles as a source for reintroductions on the mainland. We, therefore, investigated genetic differentiation between Farasan and mainland populations using eleven nuclear microsatellite loci and detected a distinct gene…

medicine and health careparasitic diseasesrepatriationGazella arabicaLife SciencesMedicineIsland Ruleisolation-with-migrationhumanitiesgeographic locations
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Data from: Positive selection in development and growth rate regulation genes involved in species divergence of the genus Radix

2015

Background: Life history traits like developmental time, age and size at maturity are directly related to fitness in all organisms and play a major role in adaptive evolution and speciation processes. Comparative genomic or transcriptomic approaches to identify positively selected genes involved in species divergence can help to generate hypotheses on the driving forces behind speciation. Here we use a bottom-up approach to investigate this hypothesis by comparative analysis of orthologous transcripts of four closely related European Radix species. Results: Snails of the genus Radix occupy species specific distribution ranges with distinct climatic niches, indicating a potential for natural…

medicine and health careRadixpositive selectionRadix balthicaMedicinemollusksAdaptive sequence evolutionLife sciences
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