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49 results for “mutation load”
Demographic history and natural selection shape patterns of deleterious mutation load and barriers to introgression across Populus genome
<p><br> Abbreviation of species names in each folder: Palb, P. alba; Pade, P. adenopoda; Pdav, P. davidiana; Ptra, P. tremula; Ptrs, P. tremuloides; Prot, P. rotundifolia; Pqio,P. qiongdaoensis.</p> <p>1. FST<br> Relative divergence (FST) for pairwise species comparisons was calculated for all sites with 100 Kbp non-overlapping windows. </p> <p>2. dxy<br> Absolute divergence (dxy) was calculated for all sites with 100 Kbp non-overlapping windows. </p> <p>3. Nucleotide diversity<br> Nucleotide diversity (π) was calculated for all sites with 100 Kbp non-overlapping windows. </p> <p>4. Derived allele frequency<br> The derived frequencies of 4 different functional categories. Each folder contains seven Populus resluts</p> <p>5. Derived_allele_statistics<br> The statistics of homozygous and heterozygous derived alleles for loss of function, deleterious, tolerated and synonymous variants for each individual. The last two individuals in each file are outgroups </p> <p>6. dsuite-dinvestigate<br> The outputs of 10 trios using program Dinvestigate from Dsuite. The sliding window is 50 SNPs, and the step is 20 SNPs.</p> <p>7. Recombination rate<br> The result of population-scaled recombination rate was calculated by LDhat v2.2.</p> <p>8. Volcanofinder<br> Genome-wide scans of introgression sweeps within each species was implemented using VolcanFinder v.1.0 with the Model over 10 Kbp non-overlapping windows.</p> <p>9. ihh12<br> phased SNPs were used to computed ihh12 by selscan v1.3.0. </p> <p>10 populus162.phased.recode.vcf.gz<br> SNPs were phased with Beagle v.4.1 for the 162 non-hybrid individuals.</p> <p>11 populus227.snp.rm_indel.para_filter.biallelic.GQ30.max_miss20.bed.recode.vcf.gz <br> The vcf of 227 Populus samples. </p>
Conditionally deleterious mutation load accumulates in genomic islands but can be purged with sufficient genotypic redundancy
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Data from: Expressed mutational load increases towards the edge of a species' geographic range
There is no general explanation for why species have restricted geographic distributions. One hypothesis posits that range expansion or increasing scarcity of suitable habitat result in accumulation of mutational load due to enhanced genetic drift, which constrains population performance towards range limits and further expansion. We tested this hypothesis in the North American plant, Arabidopsis lyrata. We experimentally assessed mutational load by crossing plants of 20 populations from across the entire species range and by raising the offspring of within- and between-population crosses at five common garden sites within and beyond the range. Offspring performance was tracked over three growing seasons. The heterosis effect, depicting expressed mutational load, was increased in populations with heightened genomic estimates of load, longer expansion distance or long-term isolation, and a selfing mating system. The decline in performance of within-population crosses amounted to 80%. Mutation accumulation due to past range expansion and long-term isolation of populations in the area of range margins is therefore a strong determinant of population-mean performance, and the magnitude of effect may be sufficient to cause range limits.
Pretreatment Neutrophil-to-Lymphocyte Ratio, Mutational Load, and Outcomes in Patients Treated with Immune Checkpoint Inhibitors
<p>This dataset has been used to analyze the association between pre-treatment neutrophil-to-lymphocyte ratio and tumour mutational burden with survival and response to treatment in immunotherapy-treated patients with cancer. The dataset contains clinical and genomic data for 2,037 patients with 18 cancer types.</p>
Give and take: Effects of genetic admixture on mutation load in endangered Florida panthers
<p>Genetic admixture is a biological event inherent to genetic rescue programs aimed at the long-term conservation of endangered wildlife. Although the success of such programs can be measured by the increase in genetic diversity and fitness of subsequent admixed individuals, predictions supporting admixture costs to fitness due to the introduction of novel deleterious alleles are necessary. Here, we analyzed nonsynonymous variation from conserved genes to quantify and compare levels of mutation load (i.e., proportion of deleterious alleles and genotypes carrying these alleles) among endangered Florida panthers and non-endangered Texas pumas. Specifically, we used canonical (i.e., non-admixed) Florida panthers, Texas pumas, and F<sub>1</sub> (canonical Florida x Texas) panthers dating from a genetic rescue program and Everglades National Park panthers with Central American ancestry resulting from an earlier admixture event. We found neither genetic drift nor selection significantly reduced overall proportions of deleterious alleles in the severely bottlenecked canonical Florida panthers. Nevertheless, the deleterious alleles identified were distributed into a disproportionately high number of homozygous genotypes due to close inbreeding in this group. Conversely, admixed Florida panthers (either with Texas or Central American ancestry) presented reduced levels of homozygous genotypes carrying deleterious alleles but increased levels of heterozygous genotypes carrying these variants relative to canonical Florida panthers. Although admixture is likely to alleviate the load of standing deleterious variation present in homozygous genotypes, our results suggest introduced novel deleterious alleles (temporarily present in heterozygous state) in genetically rescued populations could potentially be expressed in subsequent generations if their effective sizes remain small.</p>
Parental care results in a greater mutation load, for which it is also a phenotypic antidote
<p>Benevolent social behaviours, such as parental care, are predicted to relax selection against deleterious mutations, enabling them to persist. We tested this prediction experimentally using burying beetles, <em>Nicrophorus</em> <em>vespilloides</em>, which make an edible nest for their larvae, whom they nourish and defend. For 20 generations, we allowed replicate experimental burying beetle populations to evolve either with post-hatching care ('Full Care' populations) or without it ('No Care' populations). Lineages were seeded from these experimental populations and then inbred to expose differences in their mutation load. Outbred lineages served as controls. Half the lineages received post-hatching care, half did not. We found that inbred lineages derived from the Full Care populations had lower breeding success and went extinct more quickly than lineages derived from the No Care populations – but only when offspring received no post-hatching care. We infer that Full Care lineages carried more recessive deleterious mutations. When parents provided care, the developmental environment was sufficiently benign that broods had higher survival, whether the population had a high mutation load or not. We suggest that the increased mutation load caused by parental care increases a population's dependence upon care. This could explain why care is seldom lost once it has evolved.</p>
Parental care results in a greater mutation load, for which it is also a phenotypic antidote
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Data from: Expressed mutational load increases towards the edge of a species’ geographic range
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Give and take: Effects of genetic admixture on mutation load in endangered Florida panthers
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Severe inbreeding, increased mutation load, and gene loss-of-function in the critically endangered Devil’s Hole pupfish
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Data from: Sexual selection can remove an experimentally induced mutation load
Sexual selection is argued to be important for the removal of deleterious mutations, promoting population fitness, accelerating adaptation, and compensating for the two-fold cost of sex. Here we induced mutations in the dung beetle Onthophagus taurus using ionizing radiation, and tested the efficacy of sexual selection in their removal. Mutations reduced male precopulatory (strength) and postcopulatory (testes mass) sexual traits. Two generations of sexual selection were sufficient to remove mutations that affected male strength, but not testes mass. Induced mutations did not affect female productivity, which was elevated by sexual selection. Our results provide empirical support for the hypothesis that condition-dependent traits offer a large target for mutational variation, and that sexual selection can purge the genome of deleterious mutations and promote population fitness.
Subclonal mutational load predicts survival and response to immunotherapy in cancers with low to moderate TMB
<p>Here we provide the downloadable links of subclonal reconstruction results by <strong>CliPP</strong>, on both <strong>TCGA</strong> and <strong>PCAWG</strong> datasets. We also provide the source of our in-house simulation data (<strong>CliPPSim4k</strong>), along with a comparison between CliPP and PhyloWGS.</p> <p>For more detailed information about the data, please refer to our paper: <a href="https://www.biorxiv.org/content/10.1101/2024.07.03.601939v1" target="_new" rel="noopener">https://www.biorxiv.org/content/10.1101/2024.07.03.601939v1</a> or visit our web app: <a href="https://bioinformatics.mdanderson.org/apps/CliPP/" target="_new" rel="noopener">https://bioinformatics.mdanderson.org/apps/CliPP/</a></p>
Data from: Sexual selection can remove an experimentally induced mutation load
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Selection in males purges the mutation load on female fitness
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Demographic history shaped geographical patterns of deleterious mutation load in a broadly distributed Pacific Salmon
<p class="17"><span>A thorough reconstruction of historical processes is essential for a comprehensive understanding the mechanisms shaping patterns of genetic diversity. Indeed, past and current conditions influencing effective population size have important evolutionary implications for the efficacy of selection, increased accumulation of deleterious mutations, and loss of adaptive potential. Here, we gather extensive genome-wide data that represent the extant diversity of the Coho salmon (<i><span>Oncorhynchus kisutch</span></i>) to address two objectives. We demonstrate that a single glacial refugium is the source of most of the present-day genetic diversity, with detectable inputs from a putative secondary micro-refugium. We found statistical support for a scenario whereby ancestral populations located south of the ice sheets expanded in postglacial time, swamping out most of the diversity from other putative micro-refugia. Demographic inferences revealed that genetic diversity was also affected by linked selection in large parts of the genome. Moreover, we demonstrate that the recent demographic history of this species generated regional differences in the load of deleterious mutations among populations, a finding that mirrors recent results from human populations and provides increased support for models of expansion load. We propose that insights from these historical inferences should be better integrated in conservation planning of wild organisms, which currently focuses largely on neutral genetic diversity and local adaptation, with the role of potentially maladaptive variation being generally ignored.</span></p>
Data from: Do slower movers have lower reproductive success and higher mutation load?
Deleterious mutations occur frequently in eukaryotes, resulting in individuals carrying multiple alleles that decrease their fitness. At a population level, if unchecked, accumulation of this mutation load can ultimately lead to extinction. How selection counters the accumulation of mutation load, limiting declines in population fitness, is not well understood. Here, we use manipulative experiments in zebrafish (Danio rerio) to investigate the opportunities for selection on mutation load. Inducing high mutation load through mutagenesis, we applied one generation of within-family selection on locomotor performance, and characterised both the direct response to this selection and the indirect response of reproductive success. Offspring of slow swimming parents exhibited age-dependent declines in swimming speed, while their cousins, with faster swimming parents, did not. This pattern mimics previously documented differences between high and low mutation load populations of zebrafish, suggesting that slow swimming siblings inherited (and transmitted) more mutations than their faster swimming siblings. Crosses among offspring of slow swimming fish had, on average, <75% of the reproductive success of crosses among offspring of fast swimming parents, or crosses of offspring of slow swimmers with offspring of fast swimmers. This evidence of mutationally correlated swimming speed and reproductive success reveals the potential for concordant selection on mutation load through different fitness components. There was no evidence that crosses within families (where parents potentially shared the same mutations inherited from their common ancestor) had lower reproductive success than crosses among families, suggesting that viability selection was not acting predominantly through lethal recessive homozygotes. Rather, patterns of reproductive success are suggestive of effects of mutation number per se on embryo viability. Overall, our results highlight the potential for early life mortality to remove deleterious mutations, and the need to account for this mortality when investigating the evolutionary dynamics of mutation load.
Data from: Reducing mutation load through sexual selection on males
Mutation load is a key parameter in evolutionary theories, but relatively little empirical information exists on the mutation load of populations, or the elimination of this load through selection. We manipulated the opportunity for sexual selection within a mutation accumulation divergence experiment to determine how sexual selection on males affected the accumulation of mutations contributing to sexual and non-sexual fitness. Sexual selection prevented the accumulation of mutations affecting male mating success, the target trait, as well as reducing mutation load on productivity, a non-sexual fitness component. Mutational correlations between mating success and productivity (estimated in the absence of sexual selection) were positive. Sexual selection significantly reduced these fitness component correlations. Male mating success significantly diverged between sexual selection treatments, consistent with the fixation of genetic differences. However, the rank of the treatments was not consistent across assays, indicating that the mutational effects on mating success were conditional on biotic and abiotic context. Our experiment suggests that greater insight into the genetic targets of natural and sexual selection can be gained by focusing on mutational rather than standing genetic variation, and on the behavior of trait variances rather than means.
Data from: Mutation rate dynamics in a bacterial population reflect tension between adaptation and genetic load
Mutations are the ultimate source of heritable variation for evolution. Understanding how mutation rates themselves evolve is thus essential for quantitatively understanding many evolutionary processes. According to theory, mutation rates should be minimized for well-adapted populations living in stable environments, whereas hypermutators may evolve if conditions change. However, the long-term fate of hypermutators is unknown. Using a phylogenomic approach, we found that an adapting Escherichia coli population that first evolved a mutT hypermutator phenotype was later invaded by two independent lineages with mutY mutations that reduced genome-wide mutation rates. Applying neutral theory to synonymous substitutions, we dated the emergence of these mutations and inferred that the mutT mutation increased the point-mutation rate by ~150-fold, while the mutY mutations reduced the rate by ~40-60%, with a corresponding decrease in the genetic load. Thus, the long-term fate of the hypermutators was governed by the selective advantage arising from a reduced mutation rate as the potential for further adaptation declined.
Data from: Evolutionarily stable sex ratios and mutation load
Frequency-dependent selection should drive dioecious populations toward a 1:1 sex ratio, but biased sex ratios are widespread, especially among plants with sex chromosomes. Here, we develop population genetic models to investigate the relationships between evolutionarily stable sex ratios, haploid selection, and deleterious mutation load. We confirm that when haploid selection acts only on the relative fitness of X and Y-bearing pollen and the sex ratio is controlled by the maternal genotype, seed sex ratios evolve toward 1:1. When we also consider haploid selection acting on deleterious mutations, however, we find that biased sex ratios can be stably maintained, reflecting a balance between the advantages of purging deleterious mutations via haploid selection, and the disadvantages of haploid selection on the sex ratio. Our results provide a plausible evolutionary explanation for biased sex ratios in dioecious plants, given the extensive gene expression that occurs across plant genomes at the haploid stage.
Data from: Sex-chromosome turnovers induced by deleterious mutation load
In sharp contrast with mammals and birds, many cold-blooded vertebrates present homomorphic sex chromosomes. Empirical evidence supports a role for frequent turnovers, which replace non-recombining sex chromosomes before they have time to decay. Three main mechanisms have been proposed for such turnovers, relying either on neutral processes, sex-ratio selection, or intrinsic benefits of the new sex-determining genes (due e.g. to linkage with sexually antagonistic mutations). Here we suggest an additional mechanism, arising from the load of deleterious mutations that accumulate on non-recombining sex chromosomes. In the absence of dosage compensation, this load should progressively lower survival rate in the heterogametic sex. Turnovers should occur when this cost outweighs the benefits gained from any sexually antagonistic genes carried by the non-recombining sex chromosome. We use individual-based simulations of a Muller's ratchet process to test this prediction, and investigate how the relevant parameters (effective population size, strength and dominance of deleterious mutations, size of non-recombining segment, and strength of sexually antagonistic selection) are expected to affect the rate of turnovers.
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Allen Brain Atlas
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