Orientador: Omar Ribeiro Thomaz / Dissertação (mestrado) - Universidade Estadual de Campinas, Instituto de Filosofia e Ciências Humanas / Made available in DSpace on 2018-08-22T11:30:55Z (GMT). No. of bitstreams: 1 Vale_MairaCavalcanti_M.pdf: 14775616 bytes, checksum: c1a99ae25623fe8ace3dca1ef185c660 (MD5) Previous issue date: 2013 / Resumo: O presente trabalho é fruto dos aprendizados ao longo do curso de mestrado e de três meses de trabalho de campo na África do Sul. O trabalho foi desenvolvido com foco no cotidiano de algumas mulheres negras, moradoras da região de KwaZulu-Natal e falantes de isiZulu, através dos diversos grupos dos quais fazem parte. Estes estão ligados a funerais e maneiras de poupar dinheiro - nos quais se encontram periodicamente para guardar certa quantia que poderá ser utilizada quando precisarem para os grandes custos de funerais ou rituais para os ancestrais -, como também relacionados ao ganho de recursos pela venda de artesanatos feitos de miçangas, alimentos produzidos em hortas comunitárias ou na criação de galinhas. A partir dessas experiências é também feita nesta dissertação uma discussão sobre a própria forma de se fazer e escrever a pesquisa. Ao usar no texto elementos trazidos de diversas formas de conhecimento, como a literatura, o trabalho de campo e alguns filmes, tentei demonstrar aquilo que aprendi com as pessoas que me receberam, de uma forma que pudesse espelhar a complexidade da vida e transpirar as confusões supostas em se estar na África do Sul. A escolha da narrativa tem como intenção ser instrumento que desenha a importância da terra e da ancestralidade, e de tudo que a ela está vinculado politicamente, na vida das mulheres e casas que me acolheram ao longo da pesquisa. Assim como nas próprias relações traçadas a partir das diferenças de língua e de cor. A ideia é construir conhecimento antropológico de uma forma em que a narrativa faça parte da reflexão, contando as estórias das pessoas que encontrei em diversas linguagens. O pressuposto aqui é, pois, de que é possível que a própria narrativa faça parte da construção de uma linguagem do conhecimento científico e analítico que se paute nas formas com que as próprias interlocutoras de campo pensam suas vidas / Abstract: This work is a result of master's course and of the three months of field work developed in South Africa on 2011. The work was done with focus on the daily activities of black women living in KwaZulu-Natal, isiZulu speakers, through the various groups which they are part of. Those groups are linked to funerals issues and to save money - meeting periodically to get money that can be used when needed for the large costs of funerals or rituals for the ancestors - as well as resources related to gain income from saling handicrafts made of beads, food grown in community gardens or raising chickens. From these experiences, it is also made here a discussion about doing and writing a research, for that, it is used along the dissertation elements brought from various forms of knowledge, such as literature, field work and some movies. In doing so, I tried to show what I learned from the people who received me in a way that could reflect the complexity of life and evidence the confusions supposed on being in South Africa. The narrative choices are intended to be an instrument that draws the importance of land and ancestry, and all that is politically linked to them, in the women's lives and homes which welcomed me along the search. Such as the relationships themselves drawn from the differences of language and color. The idea is to build anthropological knowledge in a way that the narrative is a part of the reflection, telling the stories of the people I met in several languages guided by what really care for the women and what they chose to tell me / Mestrado / Antropologia Social / Mestra em Antropologia Social

Raça e etnia são substitutos ruins para ancestralidade genética. O uso de marcadores genéticos de ancestralidade melhoram o quadro significativamente, especialmente em populações miscigenadas como a brasileira. Nós determinamos o genótipo de 547 pessoas de São Paulo, Brasil de 90 marcadores de ancestralidade que distinguem origem semítica de européia. Ancestralidade centro-sul asiática (CSA) correspondeu a 29% do total, o segundo maior grupo. Outras análises indicam que esta contribuição genética semítica é derivada dos cristãos-novos durante o período colonial brasileiro. Nós então investigamos se ancestralidade africana geneticamente determinada está associada a alterações neuropatológicas comunmente ligada à demência, conforme sugerido por estudos de negros nos Estados Unidos. Nós estudamos 202 cérebros obtidos entre 2004 e 2009 no banco de encéfalos do Grupo de Estudos de Envelhecimento Cerebral da Faculdade de Medicina da USP, identificando a presença de placas neuríticas, emaranhados neurofibrilares, arterioloesclerose, infartos cerebrais e corpúsculos de Lewy. Nós também ajustamos os resultados para múltiplos fatores de risco e genótipo de APOE. Ao contrário de estudos prévios, indivíduos com ancestralidade africana apresentaram menor prevalência de placas neuríticas nas análises univariada e multivariadas. Os resultados são robustos e não se alteram quando restringimos a comparação aos que se auto-declaram brancos, nem quando ajustamos para genótipo de APOE4, ou quando ajustamos para idade e sexo somente. Pela primeira vez nós demonstramos com marcadores genéticos de ancestralidade, que ancestralidade africana é protetora para a neuropatologia da doença de Alzheimer. Nosso uso de ancestralidade determinada geneticamente tem implicações diretas no estudo da genética de doenças complexas / Race/ethnicity is poor surrogate for estimating ancestry. Genetic testing using ancestryinformative markers are a significant improvement, especially in admixed populations such as the Brazilian population. We have genotyped 547 inhabitants of São Paulo, Brazil for 90 ancestryinformative markers that have previously been shown to distinguish individuals with Semitic and European ancestry. Central-South Asian (CSA) ancestry emerged as the second largest cluster within our population (29%). Further comparisons indicated that this semitic contribution to the Brazilian gene pool is likely derived from Portuguese New Christians during colonial times. We then investigated whether genetically-determined African ancestry is associated with neuropathological changes commonly associated with dementia, as suggested by studies in African Americans. We studied 202 brains obtained in the brain bank of the Brazilian Aging Brain Study Group of the University of Sao Paulo between 2004 and 2009 for presence of neuritic plaques, neurofibrillary tangles, small vessel disease, brain infarcts, and Lewy bodies. We also adjusted the results for multiple environmental risk factors and APOE genotype. Contrary to previous studies, subjects with African ancestry showed lower prevalence of neuritic plaques in the univariate and multivariate analysis. The results are robust and are not altered when studying only those who self-defined themselves as Whites, when adjusting for APOE4 status only, or when adjusting for age and sex only. We therfore showed for the first time, using geneticallydetermined ancestry markers, that African ancestry is highly protective of Alzheimer\'s disease neuropathology. Our use of genetically-determined ancestry has led to results that have direct implications on the study of the genetics of complex diseases

Sex and ancestry are most commonly estimated by anthropologists using the skull. Typically, measurements and observations are taken on the skull itself, but for the purpose of convenience, computed tomography (CT) scans are increasingly used in place of skulls in research and forensic casework. Researchers work under the assumption that the dry skull-to-CT scan ratio is one-to-one; however, research on the accuracy of CT scans is sparse. In this study, eight skulls from the Boston University Donated Skeletal Collection were scored for sex and ancestral morphological traits following Buikstra and Ubelaker (1994) and Hefner and Ousley (2014), and measured using standard cranial measurements according to Langley et al. (2016). CT scans were then taken of the eight skulls and the same morphological observations and measurements were taken using the RadiAnt 5.5.1 CT viewer. Additionally, the measurements of each skull and scan were entered into FORDISC 3.1, a software program that provides discriminant functions for the processes of sex and ancestry estimation. The measurements for each dry skull-CT scan pairing were then analyzed for variance and mean differences. The results of the morphological and metric analyses indicate that the majority of the data gathered from dry skulls did not vary significantly from the measurements taken on the CT scans. The morphological sex estimation resulted in the same estimation for each skull-to-CT scan pairing; however, the morphological ancestry estimation results indicated that skeletal information lost in CT scans can make full visualization and therefore assessment of the facial region difficult. The FORDISC 3.1 results generally support the indication that there is not a significant difference between skull and CT scan measurements, with consistent sex estimation results for each dry skull-to-CT scan pairing and consistent ancestry estimation results for the majority of the pairings. However, the sex and ancestry estimations were not always accurate considering the true ancestral backgrounds of the individuals. Based on these outcomes, it is evident that CT scans can be used to obtain reliable morphological assessments and measurements of a skull, which can then be used to estimate sex using FORDISC 3.1. However, to ensure accuracy of the sex and ancestry estimations, other methods should be used in conjunction with FORDISC 3.1.

This essay examines the incentives and notions behind the practice of genealogy, in terms of how discourses and notions of kinship, identity and history is expressed against the setting of genealogy as a cultural and social phenomenon that is gaining a growing interest amongst the general public. Through qualitative interviews with six amateur genealogists, the study explores how notions of kinship and history shape the way in which genealogists come to understand themselves and their place in the world. Furthermore, the study explores how genealogists make use of the specific knowledge that they have acquired through their engagement with genealogy. Through analysis of discourse and the logics approach, the essay shows that lack of specific knowledge about one’s ancestry is seen as an inherent reason for seeking knowledge through genealogy. The essay indicates that the notion of understanding oneself can be seen as a significant incentive and driving force in the practice of genealogy, where kinship is made meaningful through identity formation. The essay also shows that genealogy is made meaningful through notions and desires of belonging and affinity, and that genealogy can be seen as a way for genealogists to either create or maintain links between generations, to places, or with the past in general. Furthermore, the essay shows examples of how genealogy can be seen as a way to explore alternative aspects of history, and that the knowledge that is acquired through genealogy can be employed to challenge understandings of “real” and “authentic” history. Lastly, the essay shows that genealogy offers a backdrop of historic knowledge that can be used by genealogists to contrast notions of the past with notions of the present, in order to express criticism towards society, convey moral messages, and to make sense of the present time.

Traditionally, pre-contact Native Americans have served as a biological reference for identifying modern Asian individuals in aspects of the biological profile due to their distantly shared genetic history, although this assumption remains largely untested. This study explores the craniomorphic variability between Asian and Asian-derived groups to ascertain whether they can be differentiated using population-specific models. Cranial and mandibular nonmetric trait data were recorded on pre-contact Native Americans (n=150) and compared within a statistical framework to cranial trait data for modern Thai (n=150) and Japanese (n=150) individuals. Chi-square analyses indicate that the groups exhibit statistically significant differences in their trait expressions. Of the 35 traits analyzed, 31 differ significantly between the groups. Binary logistic regression equations for differentiating the Japanese, Thai, and Native Americans are presented, and cross-validated correct classification rates range 60.0-90.0%. Further, the inclusion of sex into the logistic regression equations failed to improve their accuracies. The results indicate that the Native American and Asian groups are not skeletally homogenous due to divergent population histories, and that numerous cranial and mandibular nonmetric traits are resolute enough to detect differences within and between Asian and Asian-derived groups. Thus, this study highlights the utility of nonmetric traits in identifying individuals beyond the traditional African (“Black”), (“White”), and Asian groupings.

Ancestry estimation of skeletonized remains by forensic anthropologists is conducted through comparative means, and a lack of population-specific data results in possible misclassifications. This is especially germane to individuals of Latin American ancestry. Generally, each country in Latin America can trace their ancestry to three parental groups: Indigenous, European, and African. However, grouping all Latin American individuals together under the broad “Hispanic” category ignores the specific genetic contributions from each parental group, which is variable and dependent on the population histories and sociocultural dynamics of each country. This study analyzes the craniometric ancestry of Hispaniola (the Dominican Republic and Haiti) using the island’s history, along with 190 cranial Computed Tomography (CT) scans (f = 103; m = 87), to determine similarities and differences between the two groups. A total of 12 linear discriminant function analyses produced cross-validated classification accuracies of 75.0 – 83.3% for females, 71.8 – 87.5% for males, and 72.0 – 82.2% for pooled sexes. This study demonstrates that, despite sharing a small island, Dominican and Haitian individuals can be differentiated with a fair amount of statistical certainty, which is possible due to complex socio-cultural, -political, and –demographic factors that have maintained genetic heterogeneity. Moreover, the discriminant functions provided here can be used by the international forensic science community to identify individuals living on Hispaniola.

Gene fusion is one of the hallmarks of cancer. Recent advances in RNA-seq of cancer transcriptomes have facilitated the discovery of fusion transcripts. In this study, we report identification of a surprisingly large number of fusion transcripts, including six KANSARL (KANSL1-ARL17A) transcripts that resulted from the fusion between the KANSL1 and ARL17A genes using a RNA splicingcode model. Five of these six KANSARL fusion transcripts are novel. By systematic analysis of RNA-seq data of glioblastoma, prostate cancer, lung cancer, breast cancer, and lymphoma from different regions of the World, we have found that KANSARL fusion transcripts were rarely detected in the tumors of individuals from Asia or Africa. In contrast, they exist in 30 - 52% of the tumors from North Americans cancer patients. Analysis of CEPH/Utah Pedigree 1463 has revealed that KANSARL is a familially-inherited fusion gene. Further analysis of RNA-seq datasets of the 1000 Genome Project has indicated that KANSARL fusion gene is specific to 28.9% of the population of European ancestry origin. In summary, we demonstrated that KANSARL is the first cancer predisposition fusion gene associated with genetic backgrounds of European ancestry origin.

In ancestry estimation of South African individuals, non-metric morphological trait assessment has not proven useful and previous results in FORDISC 3.0 leave room for improvement. The accuracy rates of software programs FORDISC 3.1 and 3D-ID were compared for ancestry estimation based on cranial data of black and white South Africans using discriminant function analysis. Cranial landmarks were digitized using a Microscribe G2 for geometric morphometric analysis in 3D-ID, and traditional craniometric measurements for use in FORDISC were calculated using the data collection software 3Skull. Data was collected from a total of 385 individuals (186 black and 199 white crania) from the Pretoria Bone Collection. Overall accuracy rates of 75.6% using FORDISC 3.1 and 63.1% using 3D-ID were obtained for black and white South Africans. Incorrect estimates were more often due to misclassifications of sex rather than ancestry, reflecting the decreased amount of sexual dimorphism in South African populations when compared against American populations, discussed previously. Black South Africans were more often classified correctly in FORDISC 3.1, and white South Africans were more often classified correctly in 3D-ID. Low sample size in comparative databases and broad ancestral differences between South Africans and the proxy populations used (American, European, and African) likely explain the low accuracy rates. The use of FORDISC and 3D-ID in conjunction can help South African anthropologists in estimating ancestry and ensuring correct classifications.

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