50 research outputs found

    Primers microssatélites validados em tilápia do nilo no gene da aromatase cerebral (Cyp19b)

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    Aromatase cytochrome P450 is an enzyme that is responsible for a key step in the biosynthesis of estrogens, which is linked to reproduction. This enzyme is a product of the gene Cyp19 and catalyzes the formation of estrogen from androgen. Estrogen is essential for the development of the gonads and various other physiological processes, ranging from normal growth to reproductive behavior. This study aimed at validation of primers for  microsatellite locus in the regulatory region of gene Cyp19b in Oreochromis niloticus. Thirty samples of three strains were  analyzed: Chitralada and Supreme from larviculture Aquabel, and GIFT from the State University of Maringá (Paraná, Brazil). After extraction of DNA, the samples were subjected to PCR using primers designed to flank a microsatellite region. After confirmation of amplification, the samples were subjected to electrophoretic separation in the apparatus Origins  (Elchrom Scientific, USA) to identify the alleles. A polymorphism in the regulatory region of Cyp19b was identified in the three strains. Three alleles, ranging from 123 to 141 bp, were observed. The primers for amplification of microsatellite in the regulatory region of gene Cyp19b were efficient and, therefore, they may be used for identification of mutations in this region in typical microsatellite analysis.  Studies are being conducted to correlate the effect of temperature with the alleles observed in the animals sampled and the resulting sex ratio.A aromatase citocromo P450 é uma enzima que é responsável por um passo chave na biossíntese de estrogênio que está ligado à reprodução. Esta enzima é um produto do gene Cyp19 e catalisa a formação de estrogênio a partir de androgênio. O estrogênio é essencial para o desenvolvimento das gônadas e diversos processos fisiológicos, que vão desde o crescimento normal até o comportamento reprodutivo. Este estudo teve como objetivo a validação de primers para locus microssatélite presente na região regulatória do gene Cyp19b de Oreochromis niloticus. Trinta amostras de três linhagens: Chitralada e Supreme da larvicultura Aquabel e GIFT da Universidade Estadual de Maringá – PR foram analisadas. Após a extração de DNA as amostras foram submetidas a PCR utilizando os primers desenhados para flanquear a região microssatélite. Após a confirmação da amplificação as amostras foram submetidas à separação eletroforética no aparato Origins  (Elchrom Scientific, USA) para identificação dos alelos. Foi verificada a existência um polimorfismo na região promotora de  Cyp19b  nas três linhagens. Observamos três alelos, variando entre 123 e 141 pb. Os primers para a amplificação de microssatélite na região regulatória do gene Cyp19b foram eficientes e, portanto, seu uso para identificação de mutações nesta região pode ser empregada na análise típica de microssatélite. Estudos estão sendo conduzidos para correlacionar o efeito da temperatura com os alelos observados nos animais amostrados e a proporção de sexo resultante.&nbsp

    The instrument suite of the European Spallation Source

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    An overview is provided of the 15 neutron beam instruments making up the initial instrument suite of the European Spallation Source (ESS), and being made available to the neutron user community. The ESS neutron source consists of a high-power accelerator and target station, providing a unique long-pulse time structure of slow neutrons. The design considerations behind the time structure, moderator geometry and instrument layout are presented. The 15-instrument suite consists of two small-angle instruments, two reflectometers, an imaging beamline, two single-crystal diffractometers; one for macromolecular crystallography and one for magnetism, two powder diffractometers, and an engineering diffractometer, as well as an array of five inelastic instruments comprising two chopper spectrometers, an inverse-geometry single-crystal excitations spectrometer, an instrument for vibrational spectroscopy and a high-resolution backscattering spectrometer. The conceptual design, performance and scientific drivers of each of these instruments are described. All of the instruments are designed to provide breakthrough new scientific capability, not currently available at existing facilities, building on the inherent strengths of the ESS long-pulse neutron source of high flux, flexible resolution and large bandwidth. Each of them is predicted to provide world-leading performance at an accelerator power of 2 MW. This technical capability translates into a very broad range of scientific capabilities. The composition of the instrument suite has been chosen to maximise the breadth and depth of the scientific impact o

    The Integrated Genomic Landscape of Thymic Epithelial Tumors

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    Thymic epithelial tumors (TETs) are one of the rarest adult malignancies. Among TETs, thymoma is the most predominant, characterized by a unique association with autoimmune diseases, followed by thymic carcinoma, which is less common but more clinically aggressive. Using multi-platform omics analyses on 117 TETs, we define four subtypes of these tumors defined by genomic hallmarks and an association with survival and World Health Organization histological subtype. We further demonstrate a marked prevalence of a thymoma-specific mutated oncogene, GTF2I, and explore its biological effects on multi-platform analysis. We further observe enrichment of mutations in HRAS, NRAS, and TP53. Last, we identify a molecular link between thymoma and the autoimmune disease myasthenia gravis, characterized by tumoral overexpression of muscle autoantigens, and increased aneuploidy. Radovich et al. perform multi-platform analyses of thymic epithelial tumors. They identify high prevalence of GTF2I mutations and enrichment of mutations in HRAS, NRAS, and TP53 and link overexpression of muscle autoantigens and increased aneuploidy in thymoma and patients’ risk of having myasthenia gravis
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