847 resultados para identity by descent
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Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
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Lod scores provide a method to unify linkage tests based on identity by descent and identity in marker state while permitting selection of the most informative individuals through their disease-related phenotypes and markers in relatives. After parametric lods are reviewed, a nonparametric approach that depends on a single logistic parameter beta is introduced. Lods for parents tested or unknown are derived, multiple pairwise mapping is presented, and power is shown to be good even for moderately small values of beta. Comparison of parametric and nonparametric approaches (yet to be made) will provide for polygenes the efficiency and reliability that lod scores gave to mapping of major loci 40 years ago.
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Estimates of effective population size in the Holstein cattle breed have usually been low despite the large number of animals that constitute this breed. Effective population size is inversely related to the rates at which coancestry and inbreeding increase and these rates have been high as a consequence of intense and accurate selection. Traditionally, coancestry and inbreeding coefficients have been calculated from pedigree data. However, the development of genome-wide single nucleotide polymorphisms has increased the interest of calculating these coefficients from molecular data in order to improve their accuracy. In this study, genomic estimates of coancestry, inbreeding and effective population size were obtained in the Spanish Holstein population and then compared with pedigree-based estimates. A total of 11,135 animals genotyped with the Illumina BovineSNP50 BeadChip were available for the study. After applying filtering criteria, the final genomic dataset included 36,693 autosomal SNPs and 10,569 animals. Pedigree data from those genotyped animals included 31,203 animals. These individuals represented only the last five generations in order to homogenise the amount of pedigree information across animals. Genomic estimates of coancestry and inbreeding were obtained from identity by descent segments (coancestry) or runs of homozygosity (inbreeding). The results indicate that the percentage of variance of pedigree-based coancestry estimates explained by genomic coancestry estimates was higher than that for inbreeding. Estimates of effective population size obtained from genome-wide and pedigree information were consistent and ranged from about 66 to 79. These low values emphasize the need of controlling the rate of increase of coancestry and inbreeding in Holstein selection programmes.
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This study aims to provide insights about how Brazil and India view and relate to the concept of the West, and how this affects their identity and foreign policy. Both countries' notions about the West are the subject of lively domestic discussion both in academia and the media, reflecting the struggle these countries find themselves in to define their identity as they rise. I argue that the concept of the West serves, in both Brazil and India, as a crucial concept to articulate their own identity-by a complex combination of criticizing, distancing itself from, or attempting to emulate the West.
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Dissertação conducente à obtenção do grau de Mestre em Educação Social e Intervenção Comunitária, sob orientação do Professor Doutor Luís Manuel Costa Moreno
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Starting from the observation that ghosts are strikingly recurrent and prominent figures in late-twentieth African diasporic literature, this dissertation proposes to account for this presence by exploring its various functions. It argues that, beyond the poetic function the ghost performs as metaphor, it also does cultural, theoretical and political work that is significant to the African diaspora in its dealings with issues of history, memory and identity. Toni Morrison's Beloved (1987) serves as a guide for introducing the many forms, qualities and significations of the ghost, which are then explored and analyzed in four chapters that look at Fred D'Aguiar's Feeding the Ghosts (1998), Gloria Naylor's Mama Day (1988), Paule Marshall's Praisesong for the Widow (1983) and a selection of novels, short stories and poetry by Michelle Cliff. Moving thematically through these texts, the discussion shifts from history through memory to identity as it examines how the ghost trope allows the writers to revisit sites of trauma; revise historical narratives that are constituted and perpetuated by exclusions and invisibilities; creatively and critically repossess a past marked by violence, dislocation and alienation and reclaim the diasporic culture it contributed to shaping; destabilize and deconstruct the hegemonic, normative categories and boundaries that delimit race or sexuality and envision other, less limited and limiting definitions of identity. These diverse and interrelated concerns are identified and theorized as participating in a project of "re-vision," a critical project that constitutes an epistemological as much as a political gesture. The author-based structure allows for a detailed analysis of the texts and highlights the distinctive shapes the ghost takes and the particular concerns it serves to address in each writer's literary and political project. However, using the ghost as a guide into these texts, taken collectively, also throws into relief new connections between them and sheds light on the complex ways in which the interplay of history, memory and identity positions them as products of and contributions to an African diasporic (literary) culture. If it insists on the cultural specificity of African diasporic ghosts, tracing its origins to African cultures and spiritualities, the argument also follows gothic studies' common view that ghosts in literary and cultural productions-like other related figures of the living dead-respond to particular conditions and anxieties. Considering the historical and political context in which the texts under study were produced, the dissertation makes connections between the ghosts in them and African diasporic people's disillusionment with the broken promises of the civil rights movement in the United States and of postcolonial independence in the Caribbean. It reads the texts' theoretical concerns and narrative qualities alongside the contestation of traditional historiography by black and postcolonial studies as well as the broader challenge to conventional notions such as truth, reality, meaning, power or identity by poststructuralism, postcolonialism or queer theory. Drawing on these various theoretical approaches and critical tools to elucidate the ghost's deconstructive power for African diasporic writers' concerns, this work ultimately offers a contribution to "speciality studies," which is currently emerging as a new field of scholarship in cultural theory.
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Fully differentiated pancreatic β cells are essential for normal glucose homeostasis in mammals. Dedifferentiation of these cells has been suggested to occur in type 2 diabetes, impairing insulin production. Since chronic fuel excess ("glucotoxicity") is implicated in this process, we sought here to identify the potential roles in β-cell identity of the tumor suppressor liver kinase B1 (LKB1/STK11) and the downstream fuel-sensitive kinase, AMP-activated protein kinase (AMPK). Highly β-cell-restricted deletion of each kinase in mice, using an Ins1-controlled Cre, was therefore followed by physiological, morphometric, and massive parallel sequencing analysis. Loss of LKB1 strikingly (2.0-12-fold, E<0.01) increased the expression of subsets of hepatic (Alb, Iyd, Elovl2) and neuronal (Nptx2, Dlgap2, Cartpt, Pdyn) genes, enhancing glutamate signaling. These changes were partially recapitulated by the loss of AMPK, which also up-regulated β-cell "disallowed" genes (Slc16a1, Ldha, Mgst1, Pdgfra) 1.8- to 3.4-fold (E<0.01). Correspondingly, targeted promoters were enriched for neuronal (Zfp206; P=1.3×10(-33)) and hypoxia-regulated (HIF1; P=2.5×10(-16)) transcription factors. In summary, LKB1 and AMPK, through only partly overlapping mechanisms, maintain β-cell identity by suppressing alternate pathways leading to neuronal, hepatic, and other characteristics. Selective targeting of these enzymes may provide a new approach to maintaining β-cell function in some forms of diabetes.-Kone, M., Pullen, T. J., Sun, G., Ibberson, M., Martinez-Sanchez, A., Sayers, S., Nguyen-Tu, M.-S., Kantor, C., Swisa, A., Dor, Y., Gorman, T., Ferrer, J., Thorens, B., Reimann, F., Gribble, F., McGinty, J. A., Chen, L., French, P. M., Birzele, F., Hildebrandt, T., Uphues, I., Rutter, G. A. LKB1 and AMPK differentially regulate pancreatic β-cell identity.
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The Farming of Bones deals with issues surrounding the dynamic connections between identity and boundary construction in post-colonial context. It will present an analysis of how the novelist problematizes and communicates her idea of social and national identity construction to her readers and how the readers can identify themselves with the struggles and challenges of the protagonist Amabelle who is trying to find her own identity. This essay will show how Danticat’s novel contributes to an understanding of national identity beyond borders and makes the reader take the role of an individual who constructs her identity by uncovering moments of raw humanness. Until now, no literary scholar has examined the protagonist’s therapeutic role in bridging this social and national gap. Instead critics have discussed other issues of the novel like crossing and re-crossing the border, love, dreams, etc. Although this scholarship has been very effective and rewarding, it lacks any focus on the complexity of the characters’ identity construction. Therefore, this paper will reconsider Danticat’s The Farming of Bones with a closer attention to the question of identity.
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A disturbing token of child and adolescent vulnerability in Latin America and the Caribbean is that so many are deprived of any legal identity by failure to report their birth. This bars them from exercising basic citizen rights and can hinder their access to productive employment, social benefits and the justice system and deny them recognition as full citizens and the right to well-being, capacity development and political participation.
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The slick hair coat (SLICK) is a dominantly inherited trait typically associated with tropically adapted cattle that are from Criollo descent through Spanish colonization of cattle into the New World. The trait is of interest relative to climate change, due to its association with improved thermo-tolerance and subsequent increased productivity. Previous studies localized the SLICK locus to a 4 cM region on chromosome (BTA) 20 and identified signatures of selection in this region derived from Senepol cattle. The current study compares three slick-haired Criollo-derived breeds including Senepol, Carora, and Romosinuano and three additional slick-haired cross-bred lineages to non-slick ancestral breeds. Genome-wide association (GWA), haplotype analysis, signatures of selection, runs of homozygosity (ROH), and identity by state (IBS) calculations were used to identify a 0.8 Mb (37.7-38.5 Mb) consensus region for the SLICK locus on BTA20 in which contains SKP2 and SPEF2 as possible candidate genes. Three specific haplotype patterns are identified in slick individuals, all with zero frequency in non-slick individuals. Admixture analysis identified common genetic patterns between the three slick breeds at the SLICK locus. Principal component analysis (PCA) and admixture results show Senepol and Romosinuano sharing a higher degree of genetic similarity to one another with a much lesser degree of similarity to Carora. Variation in GWA, haplotype analysis, and IBS calculations with accompanying population structure information supports potentially two mutations, one common to Senepol and Romosinuano and another in Carora, effecting genes contained within our refined location for the SLICK locus.
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Under the conditions of rapid and total change in the social, political, economic and legal environment in Lithuania, a re-orientation process is going on in all groups of society. In this process, not only younger but also middle-aged and old people become adherents to what Ms. Liubiniene calls the new, "post-materialist" values, strongly reinforced by powerful agents of socialisation originating in the West, like the media, advertising agencies and lifestyle-consumption models. As a result, the national identity of Lithuania and its inhabitants is being reconstructed. Ms. Liubiniene set out to examine the details of this evolving identity by conducting a survey of 1218 university staff and students. Her conclusions are set out in a 74 page manuscript, written in Lithuanian and available on disc. Change is most noticeable among the young. Indeed, time and time again, Ms. Liubiniene was to find that the age of 36 marks a natural watershed, with, for instance, the younger group valuing individualism highly and the older, collectivism. Ms. Liubiniene ventures to suggest that traditional values are deeply rooted amongst elderly people, women and people with an education in the humanities. Young people on the other hand, and especially those with a professional orientation towards business are more open to change and ready to adapt to new values. Turning to the evaluation of national symbols, Ms. Liubinie finds that those with an education in the humanities might be considered to be the most traditional, placing greater value on the symbols of nature, ethnic culture and religion. Folk songs and the crucifix are also in their top ten. Respondents with a technical education favour symbols of statehood and nature, and respondents with a business orientation assign greater value to the symbols of nature, history, sports and statehood. Ms. Liubinie concludes that the group of respondents most active and ready to adapt to new things is composed of young males of a business orientation. Generally the national identity of the young is weaker compared to that of the old. In the future, the combination of the evolution of values and the process of inter-generational replacement allows us to predict a weakening of the sense of national identity, or at least its transformation into something radically different to what it is today.
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The demand for electronic identity has grown as a result of governments? promotion of e-Government, in which the citizen-public administration relationship often has a strictly personal nature and requires digital identification systems that are univocal, secure, and global. The management of this identity by public administrations is an important challenge, accentuated when interoperability among public administrations of different countries become necessary. In this paper current trends in pan-euroean identity management systems are analysized and a outlook of the future European scenary is shown.
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The relationship between pairs of individuals is an important topic in many areas of population and quantitative genetics. It is usually measured as the proportion of thegenome identical by descent shared by the pair and it can be inferred from pedigree information. But there is a variance in actual relationships as a consequence of Mendelian sampling, whose general formula has not been developed. The goal of this work is to develop this general formula for the one-locus situation,. We provide simple expressions for the variances and covariances of all actual relationships in an arbitrary complex pedigree. The proposed method relies on the use of the nine identity coefficients and the generalized relationship coefficients; formulas have been checked by computer simulation. Finally two examples for a short pedigree of dogs and a long pedigree of sheep are given.
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Desegregation of social and public spaces was the most visible result of the Civil Rights Movement. After 1960, the integration of schools in Mississippi became a source of conflict. The social change of Civil Rights attacked the social order of White Resistance that supported the state superstructure. The public schools were a place for the discovery of identity for Blacks. The integrated on of the schools caused many Whites to leave rather than be integrated with Blacks. Desegregation of schools was also a slow process because the local and state government could not enforce the decisions of the US Courts, leading Blacks to realize their place in American society could only be secured through individual action. ^ This work explains the role of schooling during the integration of the Holly Springs Separate School System. The process of forging a new identity by local Blacks is examined against the forces of social change and resistance. I addition, this work examines the perils for the Blacks as they faced the uncertainty of change in the crucial Civil Rights years between 1964 and 1974. ^ This work analyzes how the Black community dealt with the problems triggered by the desegregation of the school system in Holly Springs, of a constructed social condition, a psychological state of being, the realities of racism and segregation, and the change and resistance between the individual and the collective. It is based on six months of field work investigation. Although the schools were a crucial aspect of community life for Blacks and Whites, Blacks did form their identity in them. Other institutions, such churches were more crucial. Second, the aspect of politeness and belief in law made the experience in Holly Springs unique to that place, and thus, warrants further study to determine its place within the Civil Rights Movement. Finally, while the political and economic control of Holly Springs remained with Whites, desegregation led to the resegregation of the public schools: as Whites left to private schools. ^