241 research outputs found

    Chromosome fragility in dairy cows exposed to dioxins and dioxin-like PCBs

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    In this study, we compared cross-bred dairy cows in the Susa Valley (Piedmont, northern Italy), reared either near a high-temperature steel production plant (Farms A and B) or in an industry-free area (control). Exposed cows (n 5 36) were selected based on mean bulk milk toxic equivalent values of polychlorodibenzodioxins (PCDDs) and dioxin-like (DL) polychlorobiphenyls (PCBs) and polychlorodi-benzofurans (PCDFs) equal to 18.56 pg/g fat and 8.56 pg/g of fat in dairy cows from Farms A and B, respectively, exceeding both those permitted by the legislation in force (6 pg/g fat PCDDs and DL-PCDFs/PCBs), and those measured in dairy cows (n 5 19) of the farm used as control (1.75 pg/g of fat PCDDs and DL-PCDFs/PCBs). Two types of peripheral blood cell cultures were per-formed: without (normal cultures for the chromosom

    The poly-omics of ageing through individual-based metabolic modelling

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    Abstract Background Ageing can be classified in two different ways, chronological ageing and biological ageing. While chronological age is a measure of the time that has passed since birth, biological (also known as transcriptomic) ageing is defined by how time and the environment affect an individual in comparison to other individuals of the same chronological age. Recent research studies have shown that transcriptomic age is associated with certain genes, and that each of those genes has an effect size. Using these effect sizes we can calculate the transcriptomic age of an individual from their age-associated gene expression levels. The limitation of this approach is that it does not consider how these changes in gene expression affect the metabolism of individuals and hence their observable cellular phenotype. Results We propose a method based on poly-omic constraint-based models and machine learning in order to further the understanding of transcriptomic ageing. We use normalised CD4 T-cell gene expression data from peripheral blood mononuclear cells in 499 healthy individuals to create individual metabolic models. These models are then combined with a transcriptomic age predictor and chronological age to provide new insights into the differences between transcriptomic and chronological ageing. As a result, we propose a novel metabolic age predictor. Conclusions We show that our poly-omic predictors provide a more detailed analysis of transcriptomic ageing compared to gene-based approaches, and represent a basis for furthering our knowledge of the ageing mechanisms in human cells

    A Gene Catalogue of the Euchromatic Male-Specific Region of the Horse Y Chromosome: Comparison with Human and Other Mammals

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    Studies of the Y chromosome in primates, rodents and carnivores provide compelling evidence that the male specific region of Y (MSY) contains functional genes, many of which have specialized roles in spermatogenesis and male-fertility. Little similarity, however, has been found between the gene content and sequence of MSY in different species. This hinders the discovery of species-specific male fertility genes and limits our understanding about MSY evolution in mammals. Here, a detailed MSY gene catalogue was developed for the horse – an odd-toed ungulate. Using direct cDNA selection from horse testis, and sequence analysis of Y-specific BAC clones, 37 horse MSY genes/transcripts were identified. The genes were mapped to the MSY BAC contig map, characterized for copy number, analyzed for transcriptional profiles by RT-PCR, examined for the presence of ORFs, and compared to other mammalian orthologs. We demonstrate that the horse MSY harbors 20 X-degenerate genes with known orthologs in other eutherian species. The remaining 17 genes are acquired or novel and have so far been identified only in the horse or donkey Y chromosomes. Notably, 3 transcripts were found in the heterochromatic part of the Y. We show that despite substantial differences between the sequence, gene content and organization of horse and other mammalian Y chromosomes, the functions of MSY genes are predominantly related to testis and spermatogenesis. Altogether, 10 multicopy genes with testis-specific expression were identified in the horse MSY, and considered likely candidate genes for stallion fertility. The findings establish an important foundation for the study of Y-linked genetic factors governing fertility in stallions, and improve our knowledge about the evolutionary processes that have shaped Y chromosomes in different mammalian lineages

    Chromosome-level assembly of the water buffalo genome surpasses human and goat genomes in sequence contiguity

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    Rapid innovation in sequencing technologies and improvement in assembly algorithms have enabled the creation of highly contiguous mammalian genomes. Here we report a chromosome-level assembly of the water buffalo (Bubalus bubalis) genome using single-molecule sequencing and chromatin conformation capture data. PacBio Sequel reads, with a mean length of 11.5 kb, helped to resolve repetitive elements and generate sequence contiguity. All five B. bubalis sub-metacentric chromosomes were correctly scaffolded with centromeres spanned. Although the index animal was partly inbred, 58% of the genome was haplotype-phased by FALCON-Unzip. This new reference genome improves the contig N50 of the previous short-read based buffalo assembly more than a thousand-fold and contains only 383 gaps. It surpasses the human and goat references in sequence contiguity and facilitates the annotation of hard to assemble gene clusters such as the major histocompatibility complex (MHC)

    Observation of Collider Muon Neutrinos with the SND@LHC Experiment

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    We report the direct observation of muon neutrino interactions with the SND@LHC detector at the Large Hadron Collider. A dataset of proton-proton collisions at √ s = 13.6 TeV collected by SND@LHC in 2022 is used, corresponding to an integrated luminosity of 36.8 fb − 1 . The search is based on information from the active electronic components of the SND@LHC detector, which covers the pseudorapidity region of 7.2 < η < 8.4 , inaccessible to the other experiments at the collider. Muon neutrino candidates are identified through their charged-current interaction topology, with a track propagating through the entire length of the muon detector. After selection cuts, 8 ν μ interaction candidate events remain with an estimated background of 0.086 events, yielding a significance of about 7 standard deviations for the observed ν μ signal

    Evidence for Top Quark Production in Nucleus-Nucleus Collisions

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    Search for contact interactions and large extra dimensions in the dilepton mass spectra from proton-proton collisions at \sqrt{s} = 13 TeV

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    A search for nonresonant excesses in the invariant mass spectra of electron and muon pairs is presented. The analysis is based on data from proton-proton collisions at a center-of-mass energy of 13 TeV recorded by the CMS experiment in 2016, corresponding to a total integrated luminosity of 36 fb^{-1}. No significant deviation from the standard model is observed. Limits are set at 95% confidence level on energy scales for two general classes of nonresonant models. For a class of fermion contact interaction models, lower limits ranging from 20 to 32 TeV are set on the characteristic compositeness scale Λ. For the Arkani-Hamed, Dimopoulos, and Dvali model of large extra dimensions, the first results in the dilepton final state at 13 TeV are reported, and values of the ultraviolet cutoff parameter Λ_{T} below 6.9 TeV are excluded. A combination with recent CMS diphoton results improves this exclusion to Λ_{T} below 7.7 TeV, providing the most sensitive limits to date in nonhadronic final states

    Measurements of production cross sections of polarized same-sign W boson pairs in association with two jets in proton-proton collisions at √<i>s</i>=13 TeV

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    Search for Higgs Boson Pair Production in the Four b Quark Final State in Proton-Proton Collisions at root s=13 TeV

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