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45 results for “gene copy number variations”
Dataset for: Ace and ace-like genes of invasive redlegged earth mite: Copy number variation, target-site mutations, and their associations with organophosphate insensitivity
<p class="MsoNormal">This repository contains the scripts and data required to replicate the analyses in Thia et al.'s, "Evolution of an acetylcholinesterase<em> </em>gene complex and its contribution toward organophosphate insensitivity in an invasive mite pest", submitted to <em>Pest Management Science</em>.</p> <p class="MsoNormal">In this work, Thia et al. use a combination of experimental selection and pool-seq genomic analyses to understand the genetic mechanisms underpinning organophosphate insensitivity in the redlegged earth mite, <em>Halotydeus destructor</em>. There is a special emphasis on disentangling the roles of copy number variation and target-site mutations in the acetylcholinesterase genes, <em>ace,</em> and radiated <em>ace</em>-like genes<span>.</span></p> <p class="MsoNormal">There are three major analyses: (1) an F<sub>ST</sub> genome scan to identify outlier loci between alive (insensitive) and dead (sensitive) mites; (2) an analysis of <em>ace </em>copy number variation between alive and dead mites; and (3) an analysis of candidate target-site mutations in the <em>ace</em> gene.</p>
Dataset for: Ace and ace-like genes of invasive redlegged earth mite: Copy number variation, target-site mutations, and their associations with organophosphate insensitivity
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Data from: Extreme copy number variation at a tRNA ligase gene affecting phenology and fitness in yellow monkeyflowers
Copy number variation (CNV) is a major part of the genetic diversity segregating within populations, but remains poorly understood relative to single nucleotide variation. Here, we report on a tRNA ligase gene (RLG1a) exhibiting unprecedented, and fitness-relevant, CNV within an annual population of the yellow monkeyflower Mimulus guttatus. Variation at RLG1a was associated with multiple traits in pooled population resequencing (PoolSeq) scans of phenotypic and phenological cohorts. Five of 35 (14%) of resequenced inbred lines carried three-copy variants of RLG1a (trip+), and trip+ lines exhibited elevated RLG1a expression. trip+ carriers, in addition to being over-represented in late-flowering and large-flowered PoolSeq populations, flowered later under stressful conditions in a greenhouse experiment (P < 0.05). In early-flowering wild cohorts, we discovered an additional rare variant (high+) that carries 250-300 copies of RLG1a totaling ~5.7Mb, equivalent to 20-40% of a chromosome. Mendelian segregation of diagnostic alleles and qPCR-based copy counts In the progeny of a high+ carrier, indicate that high+ is a single tandem array unlinked from the single copy RLG1a locus in the reference genome. In the wild, high+ carriers had highest fitness in two dry and/or hot years (2015 and 2017; both P < 0.01), while single copy individuals were twice as fecund as either CNV genotype in a lush year (2016: p < 0.005). Our results demonstrate fluctuating selection on CNVs affecting phenological traits in a wild population, suggest that plant tRNA ligases mediate stress-responsive life-history traits, and introduce a novel system for investigating the molecular mechanisms of gene amplification.
Data from: The fire ant social supergene is characterized by extensive gene and transposable element copy number variation
In the fire ant Solenopsis invicta, a supergene composed of ~600 genes and having two variants, SB and Sb, regulates colony social form. In single queen colonies all individuals carry only the SB allele, while in multiple queen colonies, some individuals carry the Sb allele. In this study we characterized genes with copy number variation between SB and Sb-carrying individuals. We showed extensive acquisition of gene duplicates in Sb genome, with some likely involved in polygyne-related phenotypes. We found 260 genes with differences in copy number between SB and Sb, of which 239 are in greater copy number in Sb. We observed TE accumulation on Sb, likely due to the accumulation of repetitive elements on the non-recombining chromosome. We found a weak correlation between TE copy number and differential expression, suggesting some TEs may still be proliferating in Sb, however many of the duplicated TEs were already silenced. Among the 115 non-TE genes with higher copy in Sb, enzymes responsible for cuticular hydrocarbon synthesis were highly represented. These include a desaturase and an elongase; both potentially responsible for differential queen odor and likely beneficial for polygyne ants. These genes seem to have translocated into the supergene from other chromosomes and proliferated by multiple duplication events. While the presence of transposable elements (TEs) in supergenes is well documented, little is known about duplication of non-TE genes and their possible adaptive role. Overall, our results suggest that gene duplications may be an important factor leading to monogyne and polygyne ant societies.
Quantitative PCR from human genomic DNA: the determination of gene copy numbers for congenital adrenal hyperplasia and RCCX copy number variation
<p>The dataset is related a study in which we aimed to simultaneously assess the performance of 7 quantitative polymerase chain reaction (qPCR) assays for the gene copy number (GCN) determination of the genetic elements of RCCX copy number variation (CNV). A single laboratory method validations of duplex qPCR assays with hydrolysis probes on <em>CYP21A1P</em> and <em>CYP21A2</em> genes, which are responsible for congenital adrenal hyperplasia, were performed using 46 human genomic DNA samples. We also performed the verifications on 5 qPCR assays for the genetic elements of RCCX CNV such as <em>C4A</em> gene, <em>C4B</em>, gene, RCCX CNV breakpoint, HERV-K(C4) CNV deletion and insertion alleles. The dataset contains the data of genomic DNA samples, the raw quantification cycle values of all qPCR experiments, the peak heights and dosage quotient of multiplex ligation-dependent probe amplification (MLPA) experiments, and the detailed GCN results based on qPCR and MLPA. All other analyses are available in our publication under the same title.</p>
Accumulation of gene copy number variations during the early phase of free-spawning abalone speciation
<p><span>The g</span><span>enetic basis of speciation in free-spawning marine invertebrates is poorly understood. Although gene copy number variations (GCNVs) as well as nucleotide variations possibly trigger the speciation of these organisms, empirical evidence for such </span><span>a hypothesis</span><span> is limited. In this study, we searched for genomic signatures of GCNVs that may contribute to the speciation of Western Pacific abalone species. Whole-genome sequencing data suggested the existence of significant amounts of GCNVs in closely related abalones, <em>Haliotis discus</em> and <em>H. madaka</em>, in the early phase of speciation. In addition, the degree of interspecies genetic differentiation in the genes where GCNVs were estimated was higher than </span><span>that </span><span>in other genes, suggesting that nucleotide divergence also accumulate</span><span>s in the genes with GCNVs.</span><span> GCNVs in some genes were also detected in other related abalone species, suggesting that these GCNVs are derived from both ancestral and <em>de novo</em> mutations.</span> <span>Our findings </span><span>suggest that GCNVs have been accumulated in </span><span>the early phase</span><span> of free-spawning abalone speciation.</span></p>
Data from: Evolutionary variation in gene conversion at the avian MHC is explained by fluctuating selection, gene copy numbers, and life history
<p>The Major Histocompatibility Complex (MHC) multigene family encodes key pathogen-recognition molecules of the vertebrate adaptive immune system. Hyper-polymorphism of MHC genes is <em>de novo</em> generated by point mutations, but new haplotypes may also arise by re-shuffling of existing variation through intra- and inter-locus gene conversion. Although the occurrence of gene conversion at the MHC has been known for decades, we still have limited understanding of its functional importance. Here, I took advantage of extensive genetic resources (~9000 sequences) to investigate a broad scale macroevolutionary patterns in gene conversion processes at the MHC across nearly 200 avian species. Gene conversion was found to constitute a universal mechanism in birds, as 83% of species showed footprints of gene conversion at either MHC class and 25% of all allelic variants were attributed to gene conversion. Gene conversion processes were stronger at MHC-II than MHC-I, but inter-specific variation at both MHC classes was explained by similar evolutionary scenarios, reflecting fluctuating selection towards different optima and drift. Gene conversion showed uneven phylogenetic distribution across birds and was driven by gene copy number variation, supporting significant role of inter-locus gene conversion processes in the evolution of the avian MHC. Finally, MHC gene conversion was stronger in species with fast life histories (high fecundity) and in long-distance migrants, likely reflecting variation in population sizes and host-pathogen coevolutionary dynamics. The results provide a robust comparative framework for understanding macroevolutionary variation in gene conversion at the avian MHC and reinforce important contribution of this mechanism to functional MHC diversity.</p>
Data from: Evolutionary variation in gene conversion at the avian MHC is explained by fluctuating selection, gene copy numbers, and life history
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Data from: The fire ant social supergene is characterized by extensive gene and transposable element copy number variation
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Accumulation of gene copy number variations during the early phase of free-spawning abalone speciation
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Gene clustering and copy number variation in alkaloid metabolic pathways of opium poppy
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Data from: Extreme copy number variation at a tRNA ligase gene affecting phenology and fitness in yellow monkeyflowers
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Data from: Copy number variation and expression analysis reveals a nonorthologous pinta gene family member involved in butterfly vision
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Data from: Gene copy number variations as signatures of adaptive evolution in the parthenogenetic, plant-parasitic nematode Meloidogyne incognita
Adaptation to changing environmental conditions represents a challenge to parthenogenetic organisms and until now, how phenotypic variants are generated in clones in response to the selection pressure of their environment remains poorly known. The obligatory parthenogenetic root-knot nematode species Meloidogyne incognita has a worldwide distribution and is the most devastating plant-parasitic nematode. Despite its asexual reproduction, this species exhibits an unexpected capacity of adaptation to environmental constraints, e.g., resistant hosts. Here we used a genome-wide comparative hybridization strategy to evaluate variations in gene copy numbers between genotypes of M. incognita resulting from two parallel experimental evolution assays on a susceptible vs. resistant host plant. We detected gene copy number variations (CNVs) associated with the ability of the nematodes to overcome resistance of the host plant, and this genetic variation may reflect an adaptive response to host resistance in this parthenogenetic species. The CNV distribution throughout the nematode genome is not random and suggests the occurrence of genomic regions more prone to undergo duplications and losses in response to the selection pressure of the host resistance. Furthermore, our analysis revealed an outstanding level of gene loss events in nematode genotypes that have overcome the resistance. Overall, our results support the view that gene loss could be a common class of adaptive genetic mechanism in response to a challenging new biotic environment in clonal animals.
Dataset for "Association between Amylase Alpha 1 Gene (AMY1) Copy Number Variation and Dental Caries Experience in Turkish Population"
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Data from: Gene copy number variations as signatures of adaptive evolution in the parthenogenetic, plant-parasitic nematode Meloidogyne incognita
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Gene copy number variation profiling by microarray
GEO Series GSE168603. Homo sapiens. 16 samples. Type: Genome variation profiling by SNP array; SNP genotyping by SNP array.
Genome-wide analysis of copy number variation in humans with cleft lip and/or cleft palate identifies COBLL1, RIC1, and ARHGEF38 as clefting genes
GEO Series GSE212296. Homo sapiens. 1108 samples. Type: Genome variation profiling by genome tiling array.
Gene copy number variation in male breast cancer by aCGH
GEO Series GSE23891. Homo sapiens. 25 samples. Type: Genome variation profiling by array.
Uncovering obsessive-compulsive disorder risk genes in a pediatric cohort by high-resolution analysis of copy number variation.
GEO Series GSE76436. Homo sapiens. 586 samples. Type: Genome binding/occupancy profiling by genome tiling array; Genome binding/occupancy profiling by SNP array.
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Allen Brain Atlas
Allen Brain Atlas is an Allen Institute collection of brain map atlases, datasets, APIs, and analysis tools covering mouse, human, and non-human primate brain resources.
Annotated Behaviour and Observability Dataset (ABODe)
ABODe is a University of Edinburgh DataShare dataset for behavior classification in group-housed mice using home-cage video, identities, bounding boxes, ground-plate positions, and annotator labels.
DANDI Archive for NWB datasets
DANDI is a BRAIN Initiative archive for publishing and sharing neurophysiology data, including electrophysiology, optophysiology, and behavioral data packaged as NWB and related standards.
International Brain Laboratory public data
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.
OpenNeuro
OpenNeuro is a free, open platform for sharing neuroimaging datasets, with public search, dataset pages, and download paths for web, S3, DataLad, and the OpenNeuro CLI.