No description available.

Yes / Today, practical, functional and symbolic choices inform the selection of raw materials for worked objects. In cases where we can discern the origin of worked bone, tooth, ivory and antler objects in the past, we assume that similar choices are being made. However, morphological species identification of worked objects is often impossible due to the loss of identifying characteristics during manufacture. Here, we describe a novel non-destructive ZooMS (Zooarchaeology by Mass Spectrometry) method which was applied to bone points from Pre-Contact St. Lawrence Iroquoian village sites in southern Quebec, Canada. The traditional ZooMS technique requires destructive analysis of a sample, which can be problematic when dealing with artefacts. Here we instead extracted proteins from the plastic bags in which the points had been stored. ZooMS analysis revealed hitherto unexpected species, notably black bear (Ursus americanus) and human (Homo sapiens sapiens), used in point manufacture. These surprising results (confirmed through genomic sequencing) highlight the importance of advancing biomolecular research in artefact studies. Furthermore, they unexpectedly and exceptionally allow us to identify and explore the tangible, material traces of the symbolic relationship between bears and humans, central to past and present Iroquoian cosmology and mythology. / Wellcome Trust (grant number 104911/Z/14/); the Leverhulme Trust through a Philip Leverhulme Prize (grant number DNRF128); and the Social Sciences and Humanities Research Council of Canada (SSHRC) through an Insight Development Grant (430-2014-00558)

No description available.

Thèse (Ph.D.)--Université Laval, 2004. / Bibliogr.: f. 199-231. Publié aussi en version électronique.

Orientador: Maria de Fatima Sonati / Tese (doutorado) - Universidade Estadual de Campinas, Faculdade de Ciencias Medicas / Made available in DSpace on 2018-08-09T04:43:04Z (GMT). No. of bitstreams: 1 Ribeiro_DanielaMaria_D.pdf: 2122347 bytes, checksum: 625fa24f0c7882709f12ba0054267aff (MD5) Previous issue date: 2007 / Resumo: A expressão dos genes do cluster da globina a em humanos é regulada pelo a-MRE ( a-Major Regulatory Element), um elemento localizado 40 kb à montante do respectivo cluster na região telomérica do braço curto do cromossomo 16. O a-MRE é geneticamente polimórfico e seis diferentes haplótipos, nomeados de A a F, foram determinados em alguns grupos populacionais da África, Europa e Ásia e em indivíduos pertencentes a duas populações indígenas brasileiras. As substituições de base que resultaram nestes haplótipos estão localizadas entre sítios de ligação para fatores nucleares ou em um sítio não ocupado in vivo, exceto no caso do haplótipo D, em que o polimorfismo altera a seqüência de um dos sítios ocupado in vivo pelo fator NF-E2. Não há, de nosso conhecimento, nenhum estudo experimental feito para avaliar se essa variabilidade pode influenciar a expressão gênica. Assim, no presente trabalho foi analisada e comparada a expressão do gene repórter da luciferase em células K562 transientemente transfectadas com construções que tiveram como enhancers os diferentes haplótipos do a-MRE, além de 3 dos polimorfismos isoladamente (+130, +199 e +209). Os resultados revelaram redução da expressão do gene da luciferase com todas as construções em relação à do haplótipo selvagem A: os haplótipos B e C corresponderam a 19% do grau de expressão do haplótipo A, o D a 21%, o E a 15%, o F a 3%, o polimorfismo +130 a 24%, o +199 a 32% e o +209 a 3%. Em seu conjunto, eles demonstram que os polimorfismos responsáveis pelos diferentes haplótipos do a-MRE, em sua maioria situados nas seqüências flanqueadoras dos sítios de ligação para proteínas regulatórias, reduzem a expressão gênica in vitro / Abstract: The expression of human a-like globin genes is regulated by the a-MRE (a-Major Regulatory Element), an element located 40 kb upstream of the a cluster in the short arm of chromosome 16. The a-MRE is genetically polymorphic and six different haplotypes, named A to F, have been identified in some population groups from Europe, Africa and Asia and in native Indians from two Brazilian Indian tribes. The base substitutions that resulted in these haplotypes are located between binding sites for nuclear factors or in a site that is considered not to be active in vivo, with the exception of haplotype D, in which the polymorphism changes the first binding site for the NF-E2 factor occupied in vivo. To our knowledge, there are no experimental studies evaluating whether this variability may influence gene expression. Thus, the present work analyzed and compared the expression of the luciferase reporter gene in K562 cells transiently transfected with constructs that have, as enhancers, the different a-MRE haplotypes, besides three isolated polymorphisms (+130, +199 and +209). The results demonstrated a reduction in luciferase gene expression with all the constructs compared with the wild type a-MRE (A haplotype): the B and C haplotypes corresponded to 19% of the A haplotype expression, the D to 21%, the E to 15%, the F to 3%, the polymorphism +130 to 24%, the +199 to 32% and the +209 to 3%. They demonstrate that the polymorphisms responsible for the a-MRE haplotypes, most located in the flanking sequences of the regulatory protein binding sites, decrease in vitro gene expression / Doutorado / Ciencias Biomedicas / Doutor em Ciências Médicas

Orientadores: Carmen Silvia Passos Lima, Claudio Saddy Rodrigues Coy / Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciencias Medicas / Made available in DSpace on 2018-08-12T04:46:06Z (GMT). No. of bitstreams: 1 Angelo_SandroNunes_M.pdf: 2804773 bytes, checksum: b88b1fbf49effea5eae1bf248bc95389 (MD5) Previous issue date: 2008 / Resumo: A exposição das células do cólon e do reto a substâncias carcinogênicas está associada ao consumo de alimentos que constituam fonte de substratos, como aminas aromáticas e hidrocarbonetos aromáticos policiclícos. Enzimas como a mono-oxigenase do citocromo P450, codificada pelo gene CYP1A1 e a N-acetiltransferase, codificada pelo gene NAT1, estão relacionadas com o metabolismo dessas substâncias. Os polimorfismos T6235C e A4889G, do gene CYP1A1, e o haplótipo NAT1*10, do gene NAT1, foram associados ao risco do câncer colorretal (CC) em indivíduos do hemisfério norte. Não há descrições sobre as influências desses polimorfismos no risco do CC em nossa população, sendo este o objetivo do estudo. O DNA de 254 pacientes com adenocarcinoma colorretal esporádico (ACE) e 255 controles foi analisado por meio da reação em cadeia da polimerase e digestão enzimática. Foi avaliado também, o padrão dietético de pacientes e controles por meio do recordatório de freqüência alimentar. Houve risco maior de ocorrência do ACE em indivíduos com os genótipos variantes dos polimorfismos T6235C e A4889G do gene CYP1A1 e com consumo excessivo de carnes. A frequência do haplótipo NAT1*10 foi maior em pacientes do que em controles, havendo risco maior de ocorrência do ACE nesses indivíduos. Maior risco de ocorrência da doença foi também observado em indivíduos com os haplótipos NAT1*10 do gene NAT1 e consumo excessivo de carnes e escasso de verduras e frutas. Os resultados deste estudo sugerem que as vias herdadas do metabolismo de carcinógenos, CYP1A1 e NAT1, associadas ao padrão da dieta influenciam o risco de ocorrência do ACE em nosso meio. / Abstract: The exposure of the cells of the colon and rectum to carcinogenic substances is associated with the consumption of foods that are source of substrates, such as aromatic amines and polycyclic aromatic hydrocarbons. Enzymes such as cytochrome P450 monooxygenase, encoded by the CYP1A1 gene, and acetyltransferase, encoded by the NAT1 gene, are related to the metabolism of these substances. T6235C and A4889G polymorphisms, of the CYP1A1 gene, and NAT1*10 haplotype of the gene NAT1 were associated with incidence of colorectal cancer (CC). There are no descriptions about the influences of these polymorphisms on the risk for the CC in our population, which is the objective of the study. DNA from 254 sporadic colorectal adenocarcinoma (SCA) patients and 255 controls were analysed by polymerase chain reaction and restriction digestion. It was also assessed the dietary pattern pacients and controls through the recall of food frequency. There was a greater risk of the occurrence of SCA in individuals with the variant genotypes of the T6235C and A4889G polymorphisms, of the CYP1A1 gene, associated with high consumption of meat. The frequency of the NAT1*10 haplotype was greater in pacients than in controls, with increased risk of occurrence of SCA these individuals. Increased risk of occurrence of the disease was also observed in individuals with NAT1*10 haplotype of the gene NAT1 and excessive consumption of meat and little vegetables and fruits. The results of the study suggest that the pathaway inherited from the metabolism of carcinogens, CYP1A1 and NAT1, associated with the pattern of diet influences the risk of occurrence of SCA in our country. / Mestrado / Cirurgia / Mestre em Cirurgia

Phenylalanine hydroxylase deficiency causes phenylketonuria (PKU) in humans. PKU is a recessive genetic disease that affects 1 in 10000 births among the Caucasian population. Its gene locus is highly polymorphic in its DNA sequence among different individuals and patients with PKU. DNA polymorphisms at the PAH gene locus are used to obtain haplotypes through restriction enzyme analysis. So far forty-six distinct RFLP haplotypes have been discovered in the human population. In theory, 384 distinct RFLP haplotypes can exist. This project is to develop a program to assist the geneticists by obtaining haplotypes for each member of the PKU family. It uses information obtained from digestion of the DNA samples from the family members with the restriction enzymes. The restriction enzymes employed for this purpose are Pvuii, Bglii, EcoRI, Mspi, Xmni, Hindiii, and EcoRV. The program "PKU" generates all possible haplotypes for each member of the PKU family. The generated haplotypes may include haplotypes from the forty-six defined haplotypes list or from the 338 other haplotypes that may fit the description from the restriction enzyme analysis. The program then carries out an elimination phase during which the "extra" haplotypes that had been generated for the family members but whose presence was not supported by the data from the other family members are eliminated from the individuals' haplotype lists. The remaining haplotypes are then used to determine a sibling's carrier status of the PKU disease, i.e., whether or not a sibling is a carrier of the PKU disease. / Thesis / Master of Science (MS)

The goal of this project was to identify and characterize polymorphic markers spanning regions of the bovine major histocompatibility complex (BoLA) to analyze patterns of genetic variation and haplotype structure across diverse cattle breeds with various breed histories and selection pressures. Genetic markers that demonstrated sufficient levels of polymorphism, locus specificity, Mendelian inheritance, and the accurate typing of alleles across diverse haplotypes were chosen to define separate haplotype structures for the BoLA IIb and BoLA IIa-III-I regions and to evaluate breakpoints in linkage disequilibrium within the regions surrounding BoLA IIa-III-I. A total of 23 microsatellites, two SNPSTRs, 62 SNPs, and the alleles of three class IIa genes were selected for use in this study. These markers revealed eleven recombination events, low levels of recombination in BoLA IIa-III-I, a sharp break in haplotype structure in the region centromeric to class IIa, prolonged linkage disequilibrium in the extended class I region, strong conservation of BoLA IIa-III-I haplotype structure, BoLA IIa-III-I homozygous haplotype identity across seven different breeds of cattle, and a small number of common BoLA IIa-III-I haplotypes within the Angus and Holstein breeds. This work demonstrated that 52 SNPs from the Illumina 50K SNPchip could accurately predict BoLA IIa-III-I haplotypes. These 52 SNPs represent tagSNPs that can predict BoLA IIa-III-I genetic variation and could offer a cost-effective means for screening large sample sizes for haplotype/disease association studies in the future.

Thèse (M.Sc.) -- Université Laval, 1998. / Bibliogr.: f. 72-83. Publié aussi en version électronique.

The North Atlantic right whale (Eubalaena glacialis) is the most endangered species of large whale in the world (IUCN). Efforts for the recovery of this species were initiated almost 20 years ago, yet the North Atlantic right whale shows little signs of recovery. Reliance on particular habitat areas and the effect of factors such as ship collisions, net entanglement and habitat disturbances are hampering the recovery of this species. Therefore, it is important to assess the level of genetic diversity left in this population and to identify and assess all habitat areas for potentially lethal threats. This study has identified a subset of the reproductive females that do not use the Bay of Fundy as a nursery area, through the genetic structuring of mtDNA control region haplotypes. Genetic structuring of the control region haplotypes was established and maintained by site fidelity of reproductive females to specific nursery areas. These results have identified a list of reproductive females that will be the targets of satellite tagging to elucidate the location of the alternative nursery area(s) to the Bay of Fundy. Analysis of mtDNA control region haplotypes in North and South Atlantic right whale has identified five haplotypes in the 180 North Atlantic right whales analyzed compared to 10 haplotypes in the 16 South Atlantic right whales analyzed. The low level ofhaplotypic variability in the North Atlantic right whale is a direct consequence of the extensive whaling period endured by this species. The genetic divergence between the North and South Atlantic right whales was estimated to have occurred 3.0-9.0 mya. This is similar to the genetic divergence of 2.0-5.3 mya found between the two clades identified in the South Atlantic samples. / Thesis / Master of Science (MSc)