134 research outputs found

    The evolution of genetics to genomics

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    Development of civilizations and the technology of Development improvement of crop and animals have been under human control for more than 10.000 years. Despite the term Genetics started being employed a few centuries ago, its practice is ancient and responsible for thriving of the human society to the point we see now. The recent advances in this fi eld started with the theories of evolution, mathematical models to predict traits, and studies at cellular level. The explosion of knowledge on the last few decades associated with the advancing of internet and computers led to advent of a new discipline in genetics: genomics. Here is discussed the transition from genetics to genomics and some of the main factors that were responsible for this progress. Nowadays genomics is part of most of life science studies and the outcomes are leading to outstanding discoveries on how the genome is precisely concerted; the fi ndings have been crucial to understand human illness and for development of personalized and more precise medical treatment.Development of civilizations and the technology of Development improvement of crop and animals have been under human control for more than 10.000 years. Despite the term Genetics started being employed a few centuries ago, its practice is ancient and responsible for thriving of the human society to the point we see now. The recent advances in this fi eld started with the theories of evolution, mathematical models to predict traits, and studies at cellular level. The explosion of knowledge on the last few decades associated with the advancing of internet and computers led to advent of a new discipline in genetics: genomics. Here is discussed the transition from genetics to genomics and some of the main factors that were responsible for this progress. Nowadays genomics is part of most of life science studies and the outcomes are leading to outstanding discoveries on how the genome is precisely concerted; the fi ndings have been crucial to understand human illness and for development of personalized and more precise medical treatment

    Genome-Wide Gene Expression Effects of Sex Chromosome Imprinting in \u3ci\u3eDrosophila\u3c/i\u3e

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    Imprinting is well-documented in both plant and animal species. In Drosophila, the Y chromosome is differently modified when transmitted through the male and female germlines. Here, we report genome-wide gene expression effects resulting from reversed parent-of-origin of the X and Y chromosomes. We found that hundreds of genes are differentially expressed between adult male Drosophila melanogaster that differ in the maternal and paternal origin of the sex chromosomes. Many of the differentially regulated genes are expressed specifically in testis and midgut cells, suggesting that sex chromosome imprinting might globally impact gene expression in these tissues. In contrast, we observed much fewer Y-linked parent-of-origin effects on genome-wide gene expression in females carrying a Y chromosome, indicating that gene expression in females is less sensitive to sex chromosome parent-of-origin. Genes whose expression differs between females inheriting a maternal or paternal Y chromosome also show sex chromosome parent-of-origin effects in males, but the direction of the effects on gene expression (overexpression or underexpression) differ between the sexes. We suggest that passage of sex chromosome chromatin through male meiosis may be required for wild-type function in F1 progeny, whereas disruption of Y-chromosome function through passage in the female germline likely arises because the chromosome is not adapted to the female germline environment

    Design of urban forests

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    This chapter explores the design of the urban forest. Whether the various elements are new to the urban green-space structure, or whether they are existing components which require changes in layout or management due to evolving demands, design has an important part to play. The spatial layout of trees, their composition and structure, interact with the ways people perceive or make use of them and also affect physical and ecological functioning such as shelter, shade and habitat provisioninfo:eu-repo/semantics/publishedVersio

    IMPLICAÇÕES DA ADMINISTRAÇÃO PÚBLICA GERENCIAL E SEU FUNDAMENTO NA ORDEM ECONÔMICA CONSTITUCIONAL

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    OBJETIVOS DO TRABALHO Busca-se, ao analisar aspectos de modelos estatais contrapostos, verificar quais sãos as características encontradas na administração pública nacional e identificar até que ponto a administração pública esta estabelecendo a o modelo gerencial no Brasil e como a ordem econômica constitucional possibilita a utilização desse modelo

    GWAS in Breast Cancer

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    Breast cancer is the most diagnosed cancer in women, and the second cause of cancer-related deaths among women worldwide. It is expected that more than 240,000 new cases and 40,450 deaths related to the disease will occur in 2016. It is well known that inherited genetic variants are drivers for breast cancer development. There are many mechanisms through which germline genetic variation affects prognosis, such as BRCA1 and BRCA2 genes, which account for approximately 20% of the increased hereditary risks. Therefore, it is evident that the genetic pathways that underlie cancer development are complex in which networks of multiple alleles confer disease susceptibility and risks. Global analyses through genome-wide association studies (GWAS) have revealed several loci across the genome are associated with the breast cancer. This chapter compiles all breast GWAS released since 2007, year of the first article published in this area, and discuss the future directions of this field. Currently, hundreds of genetic markers are linked to breast cancer, and understanding the underlying mechanisms of these variants might lead to the discover of biomarkers and targets for therapy in patients

    Reconstrução mandibular após ressecção de extenso Ameloblastoma de ramo: uso de prótese de Metilmetacrilato seguido de instalação de prótese de ATM customizada – relato de caso / Mandibular reconstruction after extensive Ameloblastoma resecetion in mandibular ramus: use of a space maintainer of Polymethylmethacrylate followed by custom TMJ prosthesis installation – case report

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    O ameloblastoma é um tumor dentário comum, tem um comportamento localmente agressivo e é capaz de causar um extenso envolvimento das mandíbulas. A lesão freqüentemente afeta a mandíbula, especialmente a região molar e o ângulo mandibular. No exame radiográfico, geralmente tem aspecto radiolúcido e multilocular, apresentando na maioria dos casos, expansão cortical e reabsorção radicular dos dentes adjacentes. O objetivo deste artigo é relatar um caso de um paciente de 72 anos, do sexo masculino, leucodermia, com treta no serviço de Cirurgia Oral e Maxilo-facial do Hospital Pedro Ernesto. Na primeira visita, o paciente teve um aumento assintomático de volume no lado direito da face e intraoral. A tomografia computadorizada, havia imagem hipodensa, multiloculada, com perfuração da cortical, estendendo-se da porção posterior do corpo mandibular até o pescoço do côndilo e o processo coronoide à direita. Foi realizada uma biópsia incisional que mostrou o resultado do ameloblastoma multicístico. A equipe decidiu realizar a ressecção do bloco lesional com desmontagem e reconstrução com prótese TMJ personalizada. Devido à burocracia e ao tempo necessário para a aquisição desta prótese, o tratamento foi necessário para a realização de dois tempos cirúrgicos. Portanto, foi decidido ressecar a lesão e realizar a reconstrução temporária do defeito com placa de reconstrução 2,4mm, parafusos bicorticais e polimetilmetacrilato na porção do ramo mandibular e do côndilo. Aproximadamente 6 meses após a cirurgia da lesão para remover a reconstrução final foi realizada com prótese personalizada da ATM. Atualmente, o paciente está com 5 anos de pós-operatório a segunda cirurgia sem evidência de recidiva ou infecção. Apresenta-se com o contorno facial devolvido e função mastigatória satisfatória

    New Mediterranean Biodiversity Records (December 2019)

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    This paper is a collection of novel distributional records of 20 species belonging to 8 phyla (Chlorophyta, Rhodophyta, Cnidaria, Ctenophora, Annelida, Mollusca, Arthropoda and Chordata) from 11 Mediterranean countries, namely, Spain: an additional record of the Canary dentex Dentex canariensis is reported from Spain (Valencia), this is the northernmost record of this species in the Mediterranean; Algeria: the first documented record of Caulerpa chemnitzia is reported from the Algerian coast; France: the first record of the Spotted sea hare Aplysia dactylomela is reported from the eastern coast of Corsica; Italy: the first records of the Lessepsian polychaete Dorvillea similis and the alien bivalve Isognomon legumen are reported from Italian waters while additional records of Mnemiopsis leidyi in the south Adriatic are provided;  Libya: the first record of an alien mollusc Crepidula fornicata is reported from Libyan waters; Malta: multiple sightings of gelatinous species Apolemia uvaria, Phacellophora camtschatica and Physophora hydrostatica are reported for the first time from Maltese waters, as well as the first tentative record of the Orange-spotted grouper Epinephelus cfr. coioides; Greece: an occurrence of a rare Bigeye thresher shark Alopias superciliosus is reported from Hellenic Ionian waters, while the first records of the alien Mertens’ prawn-goby Vanderhorstia mertensi, the recently described cyclopoid copepod Oithona davisae and the alien red seaweed Asparagopsis armata are reported from the Aegean Sea. The presence of the micromollusc Euthymella colzumensis is confirmed for Greece; Cyprus: the first record of the red cornetfish Fistularia petimba is reported from Cyprus; Turkey: the first record of the alien jellyfish Marivagia stellata is reported from south-eastern Turkey; Israel: the first records of the sea nettle Chrysaora sp. in the Levant are reported

    Ribosomal DNA Deletions Modulate Genome-Wide Gene Expression: “rDNA–Sensitive” Genes and Natural Variation

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    The ribosomal rDNA gene array is an epigenetically-regulated repeated gene locus. While rDNA copy number varies widely between and within species, the functional consequences of subtle copy number polymorphisms have been largely unknown. Deletions in the Drosophila Y-linked rDNA modifies heterochromatin-induced position effect variegation (PEV), but it has been unknown if the euchromatic component of the genome is affected by rDNA copy number. Polymorphisms of naturally occurring Y chromosomes affect both euchromatin and heterochromatin, although the elements responsible for these effects are unknown. Here we show that copy number of the Y-linked rDNA array is a source of genome-wide variation in gene expression. Induced deletions in the rDNA affect the expression of hundreds to thousands of euchromatic genes throughout the genome of males and females. Although the affected genes are not physically clustered, we observed functional enrichments for genes whose protein products are located in the mitochondria and are involved in electron transport. The affected genes significantly overlap with genes affected by natural polymorphisms on Y chromosomes, suggesting that polymorphic rDNA copy number is an important determinant of gene expression diversity in natural populations. Altogether, our results indicate that subtle changes to rDNA copy number between individuals may contribute to biologically relevant phenotypic variation
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