Made available in DSpace on 2016-04-15T22:45:57Z (GMT). No. of bitstreams: 2 Ricardo Carvalho Lima Ramos1.pdf: 2470740 bytes, checksum: 003bc3edcf760a9cf7a4519eab308ad4 (MD5) Ricardo Carvalho Lima Ramos2.pdf: 2504389 bytes, checksum: 91cdb69d7ce7edb1a2dce4c7a7905ca0 (MD5) Previous issue date: 2010-08-13 / Coordenação de Aperfeiçoamento de Pessoal de Nível Superior / This dissertation contains an analysis of the urban density proposals of ten projects that were awarded in the Bairro Novo Contest, held in 2004. To do this, an investigation is made, starting with the industrial revolution, of historical antecedents which left a mark on 18th, 19th and 20th century cities in the form of designs and plans. / Esta dissertação analisa as propostas de densidades urbanas dos dez projetos premiados no Concurso Bairro Novo, organizado em 2004. Para tanto, são investigados os antecedentes históricos ocorridos a partir da revolução industrial, que marcam, sob a forma de projetos e planos as cidades dos séculos XVIII, XIX e XX.

O DOPS-SP (Departamento de Ordem Política e Social do Estado de São Paulo) foi criado em 1924 com o objetivo de organizar informações sobre a vigilância dos suspeitos do que o Estado brasileiro via como criadores da desordem política e/ou social. Sob essa categoria estariam, sobretudo, os comunistas, socialistas e anarquistas. Contudo, para além dessa esfera mais conhecida de inimigos, o DOPS registrou em seus arquivos as atividades de um amplo espectro da sociedade. Entre estes estavam os militantes - ou suspeitos de militância do movimento integralista. Estes foram fichados principalmente durante o período do Estado Novo, mas também depois. Institucionalmente, os integralistas, após o período da Ação Integralista Brasileira (AIB) entre 1932 e 1937, passaram a ser reprimidos e investigados durante o Estado Novo. Após a queda da ditadura, organizaram o Partido de Representação Popular (PRP), organização que subsistiu até 1965, quando vários de seus membros entraram na Aliança Renovadora Nacional (ARENA), sustentáculo do regime militar. Toda essa trajetória está retratada em pastas da série Dossiês organizada pelo DOPS paulista, e cujas datas-limites são 1938 e 1981. Analisar como os integralistas foram vistos e investigados pelo DOPS-SP ao longo de quatro décadas, bem como a própria trajetória integralista nesse período, estão entre as minhas metas para este trabalho. / DOPS-SP (Departamento de Ordem Política e Social do Estado de São Paulo, the São Paulo State political police) was founded in 1924 in order to organize information about the suspects surveillance that Brazilian government regarded as political and/or social troublemakers. Under this category were mostly comunistas, socialists and anarchists. However, far beyond this more known sphere of enemies, DOPS recorded in their files the activities of a wide spectrum of society. Among these were partisans or suspects of the Brazilian Integralist movement. These were blacklisted mainly during Vargas Estado Novo period, but also later. Institutionally, the Integralists, after the Ação Integralista Brasileira (AIB) period between 1932 and 1937, have been repressed and investigated during Estado Novo. After dictatorships fall, they organized the Peoples Representation Party (PRP), that continued until 1965, when many of its members joined the National Renewal Alliance (ARENA), the military regime mainstay. All this history is portrayed in the DOPS-organized « Dossiês » series folders, whose limits-dates are 1938 and 1981. To analyze how the Integralists were seen and investigated by DOPS-SP over four decades, as well as the Integralist trajectory during this period are among my goals for this work.

Este trabalho tem por objetivo o estudo da literatura carcerária brasileira (escrita no cárcere ou sob a forma de reminiscência), com ênfase nos escritores que viveram durante o período do Estado Novo (1937-1945). A partir do exame de textos de caráter ficcional, epistolar e memorialístico, procuramos investigar como os autores operaram em suas obras a representação do cárcere, ou, mais precisamente, como refletiram sobre o universo carcerário e como o recriaram enquanto matéria literária. No âmbito historiográfico, procuramos demonstrar que o fenômeno do encarceramento percorre a história da literatura brasileira, sobretudo após a instauração do regime republicano. Trata-se de um trabalho de caráter panorâmico, que parte de apontamentos introdutórios para depois aprofundar-se nos autores inscritos no período referido anteriormente, situando mais detidamente alguns pontos que seriam comuns às suas obras e, ao final, procurando esboçar uma caracterização geral acerca da literatura carcerária brasileira. Acreditamos que o estudo dos escritos do cárcere constitui ocasião privilegiada para examinar a questão do resgate da memória histórica e da identidade individual enquanto fenômeno que conduziria à idéia de uma ética e de uma estética da resistência, forjadas sob as injunções da prisão política. / This work aims to make a study of the Brazilian incarceration literature (written in prison or under the form of memoirs), emphasizing the writers who lived during the period known as Estado Novo (1937-1945). Throughout the examination of fictional, epistolary and memorial texts, we tried to investigate how the authors have made the representation of the prison in their literary compositions, or, more precisely, how they reflected on the incarceration universe and how they recreate it as literary work. Within the historiographys scope, we have tried to demonstrate that the incarceration phenomenon traverses the history of Brazilian literature, especially after the instauration of the republican regimen. It is a work of panoramic character, which begins with introductory notes and then after becomes a deeper study of the authors that belong to the previously mentioned period, focusing more specifically in certain points that would be common to their works and, at the end, tries to sketch a general characterization of the incarceration Brazilian literature. We believe that the study of the pieces of writing from the prisons constitute a privileged occasion to examine the matter of rescuing the historic memory as well as the individual identity as a phenomenon which would lead to the idea of an ethics and an esthetics of resistance, forged under the injunctions of political incarceration.

Machado de Assis, homem do século 19, ainda se faz presente de modo praticamente consensual como o grande escritor nacional. Mesmo levando em conta a real qualidade literária do escritor, sua alçada ao cânone não é, contudo, natural. Pelo contrário, é resultado de construção social, histórica, cultural e política. O presente estudo localiza o processo de consagração de Machado de Assis em dois momentos decisivos da formação sócio-histórica brasileira: os regimes autoritários praticados durante o Estado Novo (1937-1945) e a ditadura civil-militar (1964-1985). A pesquisa indica não ser casual que, justamente durante regimes autoritários, a vida, a obra e a crítica do escritor tenham sido fortemente mobilizadas para construir a imagem de Machado de Assis, cristalizada e reproduzida, enfrentada e desconstruída. Além disso, e ao mesmo tempo, houve, nesses períodos, por parte da crítica literária, o desenvolvimento de importantes interpretações do realismo na obra de Machado de Assis que, embora diversas e algumas vezes divergentes, centraram-se na apreensão dos vínculos do escritor e sua obra com a realidade social. Por isso, este estudo tem como objetivo investigar as interpretações do realismo na obra machadiana construídas por críticos literários dos anos 1930 (Augusto Meyer, Astrojildo Pereira, Eugênio Gomes e Lúcia Miguel Pereira) e dos anos 1970 (Alfredo Bosi, Carlos Nelson Coutinho, Jean Michel-Massa, Luiz Costa Lima, Raymundo Faoro e Roberto Schwarz), articulando-as às mobilizações emanadas do Estado para consagração de Machado de Assis e à realidade política dos regimes autoritários brasileiros. / Machado de Assis, a 19th century man, still echoes almost unanimously as the greatest national writer. Even taking into account the authors real literary quality, his rise to the canon, however, is not natural. On the contrary, it is the result of a social, historical, cultural and politic construct. This study pinpoints the process of Machado de Assiss consecration in two decisive moments of the Brazilian socio-historical constitution: the authoritarian regimes carried out during the Estado Novo (1937-1945) and the military dictatorship (1964-1985). The research indicates it is not casual that, precisely during authoritarian regimes, the writers life, work and critique have been heavily called up to construct the image of Machado de Assis, crystallized and reproduced, confronted and deconstructed. Besides that, and at the same time, during these periods there was, on the part of the literary critique, the development of significant readings of the machadian realism which, although various and sometimes differing, focused on the apprehension of the connections of Machado de Assis and his work with the social reality. Therefore, this study has as its central objective to investigate the readings of machadian realism constructed by literary critics of the 1930s (Augusto Meyer, Astrojildo Pereira, Eugênio Gomes and Lúcia Miguel Pereira) and of the 1970s (Alfredo Bosi, Carlos Nelson Coutinho, Jean Michel-Massa, Luiz Costa Lima, Raymundo Faoro and Roberto Schwarz) combining it to the States mobilizations towards Machado de Assiss consecration and to the context of the authoritarian regimes.

Submitted by Renata Lopes (renatasil82@gmail.com) on 2017-05-15T12:01:18Z No. of bitstreams: 1 luizantoniobellettirodrigues.pdf: 3478475 bytes, checksum: df3bca29cc703f6acc7619f6635680c4 (MD5) / Approved for entry into archive by Adriana Oliveira (adriana.oliveira@ufjf.edu.br) on 2017-05-17T15:52:29Z (GMT) No. of bitstreams: 1 luizantoniobellettirodrigues.pdf: 3478475 bytes, checksum: df3bca29cc703f6acc7619f6635680c4 (MD5) / Made available in DSpace on 2017-05-17T15:52:29Z (GMT). No. of bitstreams: 1 luizantoniobellettirodrigues.pdf: 3478475 bytes, checksum: df3bca29cc703f6acc7619f6635680c4 (MD5) Previous issue date: 2017-02-14 / Durante a Segunda Guerra Mundial e sob o regime do Estado Novo, o governo brasileiro passou a perseguir estrangeiros residentes no país, oriundos dos países com o qual o país estava em guerra: Itália, Japão e Alemanha. As perseguições aconteceram de diversas formas e em diversos locais. Este trabalho analisa como os mecanismos de repressão e perseguição a estes estrangeiros aconteciam, tanto explicitamente como de forma tácita. O estudo foi feito através de análise quantitativa e qualitativa de processos no Arquivo do Crime do Arquivo Histórico de Juiz de Fora, pesquisa em jornais da época e documentos do Arquivo da Polícia Política, existentes no Arquivo Público Mineiro. O período estudado abarca o período entre 1939 e 1945, os anos de guerra. A análise das fontes abrange quatro questões historiográficas: o Estado Novo e como o entendemos hoje; a política de nacionalização de estrangeiros; a participação do Brasil na Segunda Guerra Mundial e, por fim, a perseguição aos estrangeiros e seus descendentes, vindos de países com que o Brasil estava em guerra, um dos muitos aspectos da repressão do Estado Novo. / During World War II and under the Estado Novo regime, Brazil began to persecute the foreigners, resident in the country, from the countries with which it was at war, Italy, Japan and Germany. The persecutions took place in different forms and in different places. This research analyzes how the mechanisms of repression and persecution of these foreigners occurred, both explicitly and tacitly. The study was carried out through a quantitative and qualitative process analysis in the Crime Archive at Juiz de Fora Historical Archive, research in periodicals and documents of the Political Police Archive, in the Arquivo Público Mineiro. The period studied covers the war years, from 1939 to 1945. The analysis of the sources covers four historiographical questions: the Estado Novo and how we understand it today; the nationalization policy of foreigners; the participation of Brazil in World War II and, finally, the persecution of foreigners and their descendants, of countries with which Brazil was at war, one of many aspects of the Estado Novo repression.

Orientador: Michael McDonald Hall / Dissertação (mestrado) - Universidade Estadual de Campinas. Instituto de Filosofia e Ciências Humanas / Made available in DSpace on 2018-08-20T02:13:40Z (GMT). No. of bitstreams: 1 Marchetti_OlavoBaldi_M.pdf: 1674286 bytes, checksum: 64a85c6cd29b17cab6d4e05409491bbe (MD5) Previous issue date: 2012 / Resumo: Durante a década de 1930 o governo de Getúlio Vargas adotou uma série de medidas de controle social, visando garantir o apoio e afastar as oposições ao seu projeto de Estado. Essas medidas tinham como objetivo influir também sobre a comunidade estrangeira instalada no país, e a partir de 1938 foram promulgados decretos especificamente elaborados para conter os possíveis problemas que o governo acreditava que o elemento estrangeiro poderia trazer. Dentre esses problemas a atuação política era ponto central. Neste período a comunidade italiana no Brasil sofria fortes influências do governo fascista, que desde a década de 1920 investia na propaganda do regime entre os súditos emigrados, a fim de elevar o seu prestígio internacional e assim conseguir também apoio para a implementação de seus projetos de governo. Para tanto, inventivou a organização de seus súditos através de associações dos mais diversos tipos, da imprensa e de outros meios. Os esforços de implementação dos projetos de ambos governos atingiram a comunidade italiana do estado de São Paulo. Em meados da década de 1930, quando as relações diplomáticas entre os dois países eram boas, os italianos aqui instalados conseguiram manter uma expressiva rede de associações de caráter étnico. Mas, à medida que as relações Brasil/Itália foram se desgastando, devido às disputas no cenário internacional, a situação dos italianos passou a ser menos favorável para a expressão de sentimentos nacionalistas e de pertencimento étnico, situação esta agravada pela entrada do Brasil na Segunda Guerra ao lado do bloco Aliado. Diante das medidas, os italianos de São Paulo vão procurar maneiras de reagir e se adaptar. Assim, tanto a elaboração do projeto de controle dos estrangeiros, quanto as ações policiais para colocá-lo em prática e a reação da comumidade italiana têm muito a nos dizer sobre as intenções e os posicionamentos do Estado brasileiro no período, sobre suas formas de atuação perante a sociedade e também sobre a relação desses italianos com a etnicidade, a política, com o grupo e com a sociedade brasileira / Abstract: Throughout the 1930?s, Getulio Vargas?s government took several measures of social control to obtain wider support and weaken the opposition to his State project. These measures also aimed to better control the foreign community here installed, and from 1938 the government started publishing decrees especially prepared for dealing with problems that the government believed the foreigners were likely to bring. Among these problems, political activity was a central one. During that period the Italian community suffered the influence of the fascist government that had been investing in political propaganda targeting the emigrant community since the 1920?s, with the intention of elevating Italy?s international prestige and also gaining support for their project. In order to do that, they invested in the organization of their subjects through associations of all sorts, the press and other institutions. The efforts to implement both State projects affected the Italian community of São Paulo. In the mid 1930?s, when the diplomatic channels between both countries were open, the Italians here installed were able to maintain an expressive ethnic association network. But, with the tensions between both nations rising because of the international agenda, the conditions for the Italians to manifest their nationalist and ethnic sentiment of belonging got tougher, a situation aggravated by Brazil?s decision to join the Allies in World War II. Against Vargas's measures of foreign control, the Italian community of São Paulo sought ways to react and adapt. The setting of Brazil?s foreign control project, the police actions to run the project and the Italian community?s reaction have much to say about the intentions and political standings of the Brazilian State at the time and about its manners of dealing with the national society. It also reveals the relationship of the Italian community with their national and ethnical feelings, with politics, with their own group and, last but not least, with Brazilian society / Mestrado / Historia Social / Mestre em História

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior / This work was developed during course of graduate in history at the Federal University of Santa, as a requirement for obtaining a master's degree in history. The work is Inserted in the Research Line in Migration and Labor, and counted with the Financial Support of the Coordination of Higher Education Personnel Improvement (CAPES ). This research aimed to identify and analyze the forms of action , claim and social struggle used by women workers from Santa Maria to secure their labor rights during the period known as the "Estado Novo" . The choice of the Estado Novo in Brazil was due to this being a period where many achievements of workers were being object of specific legislation and , at the same time, a moment of political repression with a strong and repressive police apparatus, with the strengthening of unions under the protection of the state and the struggle of workers to guarantee these rights historically achieved. The women, for centuries, have passed unnoticed by the history, repressed in a patriarchal and authoritarian society where most authors inserts the men on the main stage of the struggles for labor rights. In this sense, this research sought to give voice to these women, using as the main source an important tool for the fight for labor rights: the labor processes of the Acquis of Justice of Labor in Santa Maria. / O presente trabalho foi desenvolvido durante o Curso de Mestrado do Programa de Pós-Graduação em História da Universidade Federal de Santa Maria, inserido na linha de pesquisa Migrações e Trabalho e contou com o apoio financeiro da Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES) Esta pesquisa teve como objetivo identificar e analisar as formas de ação, reivindicação e lutas sociais utilizadas pelas mulheres trabalhadoras de Santa Maria para garantir os seus direitos trabalhistas durante o período denominado Estado Novo. A escolha do Estado Novo no Brasil se deu em virtude deste ser um período onde muitas conquistas dos trabalhadores estavam sendo objeto de legislação específica e ao mesmo tempo um momento de repressão política, de forte aparato policial e repressivo e do fortalecimento dos sindicatos, sob a tutela do Estado e da luta dos trabalhadores para a garantia destes direitos, historicamente conquistados. As mulheres por séculos passaram despercebidas pela história, reprimidas em uma sociedade patriarcal e autoritária, onde grande parte dos autores insere o homem no palco das lutas por reinvindicações e direitos trabalhistas. Neste sentido, a pesquisa buscou dar voz a estas mulheres, utilizando como principal fonte de pesquisa um importante instrumento de luta por reivindicação e direitos, os processos trabalhistas do Acervo da Justiça do Trabalho de Santa Maria.

Les répertoires de gènes sont des objets extrêmement dynamiques : Des gènes sont dupliqués et perdus, transférés d’un génome à l’autre et des nouveaux gènes sont créés. L’étude de ces processus et de leur impact sur l’évolution des répertoires de gènes est fondamentale pour notre compréhension de l’énorme diversité de la vie sur terre. J’ai reconstruit les familles des gènes homologues chez les levures du clade Lachancea et je les ai classées en trois catégories selon leur présence chez les espèces en dehors du clade en: transmises verticalement (98.2 %), transmises horizontalement (0.15 %) et spécifiques aux Lachancea (1.63 %). Ensuite, j’ai reconstruit l’évolution de chaque famille de gènes le long de l’arbre phylogénétique des Lachancea en terme de gains et de pertes depuis l’origine du clade. Mes résultats suggèrent que les réarrangements chromosomiques balancés (translocations, inversions) peuvent interrompre, au niveau de leurs points de cassure, la séquence codante des gènes, et entraîner jusqu’à 14 % des pertes de gènes observées (rupture de gène). En outre, j’ai observé des corrélations entre le taux de divergence des séquences codant pour des protéines et les taux de duplication de gènes, de translocations et d’inversions, et de rupture de gène, suggérant l’existence d’une horloge génomique qui coordonnerait ces processus. Par la suite, je me suis focalisé sur l’émergence de nouveaux gènes de novo à partir de séquences non-codantes, dont l’impact global sur les génomes n’est pas encore connu. J’ai pour cela analysé les gènes taxonomiquement restreints aux levures des clades Lachancea et Saccharomyces sensu stricto et j’ai pu identifier un ensemble de 596 gènes ayant fort probablement émergé de novo. Le taux d’émergence de novo est constant chez les levures au sein du même clade mais varie d’un ordre de grandeur entre les 2 clades (2.8 gènes/ma chez les Saccharomyces et 0.27 gènes/ma chez les Lachancea). Ces nouveaux gènes sont distribués uniformément sur les chromosomes. Ils sont le plus souvent orientés de façon divergente par rapport à leur voisin en 5’, ce qui suggère que leur transcription pourrait être initiée au niveau de promoteurs divergents, favorisant ainsi la transition d’une séquence intergénique non transcrite à une séquence codante transcrite (puis traduite). Enfin, j’ai montré que dans certains cas, seul un petit nombre de mutations permettent la création d’un gène bien adapté à son environnement génomique, en comparaison avec des gènes plus «anciens». Cela signifie que sous certaines conditions la transition d’une séquence non-codante vers une séquence codante peut être relativement rapide. Globalement, mes résultats suggèrent que l’émergence de novo est un processus évolutif non négligeable, représentant une source importante de création de nouvelles protéines. / Gene repertoires are highly dynamic : Genes are duplicated, lost, transferred from one genome toanother and new genes are formed. Studying these processes and how they shape gene repertoireevolution is fundamental to our understanding of how the enormous diversity of life on earth came to be. I reconstructed the homologous gene families of the yeasts of the Lachancea genus and categorized them based on their conservation in species outside the genus into vertically inherited (98.2%), horizontally transferred (0.15%) and taxonomically restricted (1.63%). Then, I inferred the evolution of each family along the genus’ phylogeny and identified the gene gain and loss events that occurred since the genus’ origin. I found that balanced chromosomal rearrangements may be responsible for up to 14% of gene losses by disrupting the coding sequence at their breakpoints and detected 3 cases with clear traces of the disruption at the sequence level. Additionally, I found that correlations exist between the rate of protein-coding sequence divergence and the rates of gene duplication, chromosomal inversions and translocations, and gene disruptions by balanced rearrangements, suggesting the existence of a genomic clock coordinating these processes. Next, I focused on the emergence of new genes de novo from non-coding sequences, a process whose overall impact remains a matter of debate. I thus analyzed taxonomically restricted genes in the two model yeast genera Lachancea and Saccharomyces sensu stricto and identified a robust set of 596 genes that have likely emerged de novo. I found that de novo emergence rates are constant among yeasts of the same genus but differ by an order of magnitude between the two genera with 2.8 genes/my in the Saccharomyces and 0.27 genes/my in the Lachancea. De novo genes are uniformly distributed on yeast genomes and are found divergently oriented relative to their 5’ neighbors suggesting that divergent transcription might play a role in their transition from non-transcribed intergenic sequences to transcribed (and translated) coding sequences. Moreover, through specific examples I was able to show that a few enabling mutations are sufficient for a young de novo gene to emerge already well-adapted relative to older genes, indicating that the transition from non-coding to coding can happen rapidly. Overall, my results support de novo emergence as a ubiquitous evolutionary process and a potent source of novel proteins.

Les Troubles du Spectre Autistique (TSA) forment un groupe hétérogène de troubles neurodéveloppementaux caractérisés par des déficits de l’interaction sociale et de la communication ainsi que la présence de comportements répétitifs et d’intérêts restreints. Les TSA affectent environ un individu sur 68. Ils se manifestent généralement durant les trois premières années de vie mais, pour certains cas, les symptômes sont reconnus plus tard, quand les exigences sociales augmentent. Les études de jumeaux et la récurrence des troubles dans certaines familles démontrent l’importance des facteurs génétiques dans la vulnérabilité aux TSA. Cependant, l’architecture génétique des TSA reste difficile à caractériser car elle est extrêmement hétérogène et il est très compliqué d’identifier, pour chacun des patients, la combinaison d’allèles à risque. Notre laboratoire a identifié la première voie génétique associée aux TSA – la voie NLGN-NRXN-SHANK- qui joue un rôle clé dans la plasticité synaptique. Il existe un nombre de plus en plus grand de gènes associés aux TSA mais peu d’études ont été réalisées sur des cohortes épidémiologiques et dans des populations isolées. L'analyse des données de génotypage et de séquençage d’exome de 357 individus issus des îles Féroé (36 patients, 136 apparentés des patients, 185 témoins) nous a permis de mettre en évidence un nombre plus important de Variations du Nombre de Copies (CNVs), un coefficient de consanguinité supérieur, un plus grand nombre de mutations homozygotes et délétères ainsi qu’un Polygenic Risk Score (ASD-PRS) supérieur chez les patients TSA comparés aux individus témoins. Notre analyse confirme le rôle de plusieurs loci associés aux TSA (NRXN1, ADNP, délétion 22q11) et a permis d’identifier de nouvelles mutations tronquant la protéine (GRIK2, ROBO1, NINL et IMMP2L) ou récessives (KIRREL3 et CNTNAP2) affectant des gènes déjà associés aux TSA. Nous avons également mis en évidence trois nouveaux gènes candidats jouant un rôle important dans la plasticité synaptique (RIMS4, KALRN et PLA2G4A) à travers la présence de mutations de novo délétères chez des patients sans déficience intellectuelle. Au total, nous avons pu identifier une cause génétique expliquant les TSA pour 11% des patients et au moins une mutation fortement délétère dans des gènes candidats chez 39% des patients. Aucune cause génétique n'a pu être trouvée chez 50% des patients. En résumé, notre étude permet de mieux comprendre l’architecture génétique des TSA dans les populations isolées en soulignant à la fois l'impact des variants communs et des variants rares mais également en révélant le rôle de nouveaux gènes pour les TSA. Ces gènes codent pour des protéines essentielles pour le neurodéveloppement et l’identification de ces facteurs impliqués dans la formation et l'entretien des synapses pourrait ainsi fournir de nouvelles pistes afin de mieux comprendre les bases biologiques des TSA et de découvrir de nouvelles stratégies thérapeutiques. Il est cependant nécessaire de comprendre plus avant l'impact de la combinaison de différentes mutations sur la fonction neuronale afin de mieux caractériser l’architecture génétique des TSA. / Autism Spectrum Disorders (ASDs) are a heterogeneous group of neurodevelopmental disorders characterized by deficits in social interaction and communication as well as the presence of repetitive behaviors and restricted interests. ASD affects approximately one in 68 individuals. They usually occur during the first three years of life but, in some cases, symptoms are recognized later, when social demands increase. There is a strong genetic component to ASD, as indicated by the recurrence risk in families and twin studies. However, the genetic architecture of ASD remains largely unknown because of its extreme heterogeneity. It is very challenging to identify, for each patient, the combination of risk alleles. Our laboratory identified the first genetic pathway associated with ASD – the NLGN-NRXN-SHANK pathway – playing a key role in synaptogenesis during development. There are an increasing number of genes associated with ASDs but few studies have been conducted on epidemiological cohorts and isolated populations. Here, we investigated 357 individuals from the Faroe Islands including 36 patients with ASD, 136 of their relatives and 185 non-ASD controls. Data from SNP array and whole exome sequencing revealed that patients had a higher burden of copy-number variants, higher inbreeding status, higher load of homozygous deleterious mutations, and a higher ASD polygenic risk score compared to controls. We confirmed the role of several ASD-associated loci (NRXN1, ADNP, 22q11 deletion) and identified new truncating (GRIK2, ROBO1, NINL and IMMP2L) or recessive variants (KIRREL3 and CNTNAP2) affecting genes already associated with ASD. We have also identified three novel candidate genes playing key roles in synaptic plasticity (RIMS4, KALRN and PLA2G4A) carrying deleterious de novo mutations in patients without intellectual disability. Overall, for 11% of individuals with ASD, a known genetic cause was identified, for 39% at least one strongly deleterious mutation was identified in a compelling candidate gene and for 50% no obvious genetic cause was detected. In summary, our study provides a better understanding of the genetic architecture of ASD in isolated populations by highlighting both the impact of common and rare variants but also by revealing the role of new genes for ASD. These genes code for proteins that are essential for neurodevelopment. The identification of these factors involved in synapse formation and maintenance could provide new leads to better understand the biological basis of ASD and find novel therapeutic strategies. However, it is necessary to further understand the combined impact of different mutations on neuronal function in order to better characterize the genetic architecture of ASD.

DANTAS, Simone Maria Silva. Memórias e histórias de quilombo no Ceará. 2009. 269 f. Tese (Doutorado em Educação) – Universidade Federal do Ceará, Faculdade de Educação, Programa de Pós-Graduação em Educação Brasileira Fortaleza-CE, 2009. / Submitted by Liliane oliveira (morena.liliane@hotmail.com) on 2012-07-30T12:29:07Z No. of bitstreams: 1 2009_TESE_SMSDANTAS.pdf: 10760501 bytes, checksum: 5ff03480eec36bc52fafe20a3b1013ce (MD5) / Approved for entry into archive by Maria Josineide Góis(josineide@ufc.br) on 2013-09-30T16:28:42Z (GMT) No. of bitstreams: 1 2009_TESE_SMSDANTAS.pdf: 10760501 bytes, checksum: 5ff03480eec36bc52fafe20a3b1013ce (MD5) / Made available in DSpace on 2013-09-30T16:28:42Z (GMT). No. of bitstreams: 1 2009_TESE_SMSDANTAS.pdf: 10760501 bytes, checksum: 5ff03480eec36bc52fafe20a3b1013ce (MD5) Previous issue date: 2009 / In this research, Memories and stories of quilombos in Ceará, we first analyze the means to enter the quilombo areas in an intimate manner, which was possible due to the value given to empiric data. Therefore, it was possible to enter the territories and to rely on the cultural heritage and the subjectivities. In order to achieve that goal, we specifically used memories, talks, and photographs as tools in the remaining quilombo communities in Minador, Bom Sucesso and Cumbe. We managed to unearth specificities and we were challenged to gain access to factors which are silenced or denied in Ceará historiography, and were thus able to witness the disturbing impact for the social-historical African descendants in Ceará. These actors deserve to and must give a detailed account of their stories from their own perspective. It is important to acknowledge their own theories about what is the meaning of the quilombo remains and reminiscences and how these social historical actors gather in the various contexts where they are included or, if we may say, excluded. Although being a negro in Ceará is not synonymous with being a descendant of an ex-slave, the essence of the idea of slavery remains in the skin of the Blacks and Pardos from that state, which brings serious harm to their quotidian life. There is a necessity to revisit the points of view and the gaps in the historiography of Ceará in order for the historical exclusion of the Blacks to lose their space in the historiography records. The studies conducted in these three remaining quilombo communities highlight points of view and gaps which deny or marginalize the Blacks and Pardos in their relevance in constructing the historical process of this state. The need to include Blacks and Pardos in a responsible manner and with social and historical justice is visible for those who do not intend to close their eyes to the social, economic and cultural way of life in Ceará / Nesta pesquisa, Memórias e Histórias de Quilombos no Ceará analisamos inicialmente as condições de entrar nos espaços quilombolas de maneira íntima, isto foi possível a partir da valorização da empiria, assim conseguimos entrar nos territórios podendo contar com o patrimônio cultural e as subjetividades. Utilizando os objetos-instrumentos da memória, oralidade e fotografia no campo específico das comunidades remanescentes de quilombos do Minador, Bom Sucesso e Cumbe, fomos descobrindo especificidades e ousamos penetrar em fatores que são silenciados ou negados na historiografia cearense, vimos o quanto isto tem custado aos atores histórico-sociais afrodescendentes no Ceará. Estes merecem e devem a partir de seus próprios olhares contar suas histórias. É importante conhecer sobre o que eles próprios teorizam, sobre o que significam as remanescências e reminiscências quilombolas, e como estes atores histórico sociais se encontram nos diversos contextos que os inclui ou, poderíamos dizer, exclui. Negro no Ceará não é sinônimo de descendente de ex-escravizados. A essência da idéia da escravização perdura nas peles dos pretos e pardos cearenses trazendo sérios prejuízos na vida cotidiana destes. Há necessidade de uma revisão de pontos e lacunas na historiografia cearense a fim de que a exclusão histórica dos negros no Ceará perca seu espaço nos registros historiográficos. Os estudos realizados nestas três comunidades remanescentes de quilombos evidenciam pontos e lacunas que negam, ou marginalizam os pretos e pardos em sua relevância no processo histórico da construção deste estado. A necessidade de incluir estes atores de forma responsável e com justiça histórica e social é visível para quem não fechar os olhos para o social, o econômico e o cultural cearenses