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49 results for “mutation load”
Data from: Mutational load, inbreeding depression and heterosis in subdivided populations
This paper examines the extent to which empirical estimates of inbreeding depression and inter-population heterosis in subdivided populations, as well as the effects of local population size on mean fitness, can be explained in terms of current estimates of mutation rates, and the distribution of selection coefficients against deleterious mutations provided by population genomics data. Using population genetics models, numerical predictions of the genetic load, inbreeding depression and heterosis were obtained for a broad range of selection coefficients and mutation rates. The models allowed for the possibility of very high mutation rates per nucleotide site, as is sometimes observed for epiallelic mutations in plants. There was fairly good quantitative agreement between the theoretical predictions and empirical estimates of heterosis and the effects of population size on genetic load, on the assumption that the deleterious mutation rate per individual per generation is approximately one, but there was less good agreement for inbreeding depression. Weak selection, of the order of magnitude suggested by population genomic data, is required to explain the observed patterns. Possible caveats concerning the applicability of the models are discussed.
Genomic signatures of inbreeding and mutation load in a threatened rattlesnake
<p>Theory predicts that threatened species living in small populations will experience high levels of inbreeding that will increase their genetic load, but recent work suggests that the impact of load may be minimized by purging resulting from long-term population bottlenecks. Empirical studies that examine this idea using genome-wide estimates of inbreeding and genetic load in threatened species are limited. Here we use individual genome resequencing data to compare levels of inbreeding, levels of genetic load (estimated as mutation load), and population history in threatened Eastern massasauga rattlesnakes (Sistrurus catenatus), which exist in small isolated populations, and closely-related yet outbred Western massasauga rattlesnakes (S. tergeminus). In terms of inbreeding, S. catenatus genomes had a greater number of ROHs of varying sizes, indicating sustained inbreeding through repeated bottlenecks when compared to S. tergeminus. At the species level, outbred S. tergeminus had higher genome-wide levels of mutation load in the form of greater numbers of derived deleterious mutations compared to S. catenatus, presumably due to long-term purging of deleterious mutations in S. catenatus. In contrast, mutations that escaped species-level drift effects within S. catenatus populations were in general more frequent and more often found in homozygous genotypes than in S. tergeminus, suggesting a reduced efficiency of purifying selection in smaller S. catenatus populations for most mutations. Our results support an emerging idea that the historical demography of a threatened species has a significant impact on the type of genetic load present, which impacts implementation of conservation actions such as genetic rescue.</p>
Data from: The evolution of XY-recombination: sexually antagonistic selection versus deleterious mutation load
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Data from: Reducing mutation load through sexual selection on males
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Data from: Mutational load, inbreeding depression and heterosis in subdivided populations
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Data from: Evolutionarily stable sex ratios and mutation load
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Data from: Strong sexual selection in males against a mutation load that reduces offspring production in seed beetles
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Data from: Do slower movers have lower reproductive success and higher mutation load?
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Demographic history shaped geographical patterns of deleterious mutation load in a broadly distributed Pacific Salmon
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Data from: Mutation rate dynamics in a bacterial population reflect tension between adaptation and genetic load
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Genomic signatures of inbreeding and mutation load in a threatened rattlesnake
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Data from: Effects of partial selfing on the equilibrium genetic variance, mutation load and inbreeding depression under stabilizing selection
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Data from: Sex-chromosome turnovers induced by deleterious mutation load
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MAU2 and NIPBL variants in Cornelia de Lange syndrome reveal MAU2-independent loading of cohesin and uncover protective mechanisms against early truncating mutations in NIPBL
GEO Series GSE122299. Homo sapiens. 9 samples. Type: Genome binding/occupancy profiling by high throughput sequencing.
Mutational and neoantigen load predict clinical benefit of adoptive T cell therapy in melanoma
GEO Series GSE100797. Homo sapiens. 25 samples. Type: Expression profiling by high throughput sequencing.
Vulnerability and life-history traits correlate with the load of deleterious mutations in fish
<p><strong>Phylogenetic dataset associated to the article : Vulnerability and life-history traits correlate with the load of deleterious mutations in fish</strong></p> <ul> <li>fastagenes.tar.gz : all the fasta file alignments used for the study.</li> <li>teleost.tr: phylogenetic tree used for mapnh et codeml analyses.</li> <li>tree-date.tr : phylogenetic tree used to control for phylogeny (tip labels corresponding to alignments).</li> <li>tree-date_spNames.tre : phylogenetic tree used to control for phylogeny (tip labels = species names).</li> <li> <p>ENSDARE00000004235_nucl.fasta.bppml_dnds: example of option file for bppml.</p> </li> <li> <p>ENSDARE00000004235_nucl.fasta.mapnhYN98: example of option file for mapnh.</p> </li> <li> <p>ENSDARE00000004235_nucl.phylip.ctl: example of control file for codeml.</p> <p> </p> <p> </p> <p> </p> </li> </ul>
Data from: Effects of interference between selected loci on the mutation load, inbreeding depression and heterosis
A classical prediction from single-locus models is that inbreeding increases the efficiency of selection against partially recessive deleterious alleles (purging), thereby decreasing the mutation load and level of inbreeding depression. However, previous multilocus simulation studies found that increasing the rate of self-fertilization of individuals may not lead to purging and argued that selective interference among loci causes this effect. In this article, I derive simple analytical approximations for the mutation load and inbreeding depression, taking into account the effects of interference between pairs of loci. I consider two classical scenarios of nonrandomly mating populations: a single population undergoing partial selfing and a subdivided population with limited dispersal. In the first case, correlations in homozygosity between loci tend to reduce mean fitness and increase inbreeding depression. These effects are stronger when deleterious alleles are more recessive, but only weakly depend on the strength of selection against deleterious alleles and on recombination rates. In subdivided populations, interference increases inbreeding depression within demes, but decreases heterosis between demes. Comparisons with multilocus, individual-based simulations show that these analytical approximations are accurate as long as the effects of interference stay moderate, but fail for high deleterious mutation rates and low dominance coefficients of deleterious alleles.
mtDNA Mutation Load Analysis in Mesoangioblasts
ClinicalTrials.gov study NCT05199740. IPD Sharing: NO. Countries: 1. Publications: 0.
Utility Of Mutational Load As A Predictor For Endoscopic Treatment Response In Barrett's Esophagus
ClinicalTrials.gov study NCT04316975. IPD Sharing: NO. Countries: 1. Publications: 0.
Data from: The fitness cost of mismatch repair mutators in Saccharomyces cerevisiae: partitioning the mutational load
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The International Brain Laboratory public data releases expose standardized mouse decision-making experiments, including Neuropixels recordings, widefield calcium imaging, behavior, and session metadata accessed through the ONE API.
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