Ocupação indígena da Amazônia com base no mtDNA: populações contemporâneas e ancestrais

Our main goal in this article is to answer some questions about the origins and the dispersion of population in the American continent. Through the analysis of the variability of the mithocondrial DNA (mtDNA) in contemporary indigenous population from the Amazon we’ve been able to conclude that 1) there has been a dramatical population reduction during the migration from Asia to America; 2) there are only, almost exclusively, four haplotypes that originate respectively from one founder haplotype; 3) there has been three or four main migrational waves between 22 and 29 thousand years B.P. To better define these conclusions we analysed also archaeological bones from the Amazon areaDiversas abordagens têm sido empregadas na tentativa de responder questões sobre a origem e a dispersão do homem nas Américas. Do ponto de vista da biologia, a investigação da variabilidade presente no DNA mitocondrial (mtDNA) tem se revelado um excelente instrumento para este fim. Os dados acumulados a partir da investigação de populações indígenas contemporâneas indicam: i) a existência de um estrangulamento populacional dramático durante a migração da Ásia para as Américas, ii) a presença quase que exclusiva de quatro grupos de haplótipos (haplogrupos A-D) cada um originado a partir de um único haplóide fundador, iii) a ocorrência de três ou quatro ondas principais de migração que teriam se iniciado entre 22 mil e 29 mil anos atrás. O número de haplótipos fundadores ocupa o ponto central das inferências acima citadas. Parte da diversidade presente entre os primeiros ameríndios pode ter sido perdida durante o processo de ocupação do continente pelos europeus a partir do início do século XVI ou pode estar sub-representada em função do número relativamente restrito de indivíduo investigados até o momento. Com o objetivo de solucionar parte dessas divergências nós investigamos a variabilidade do mtDNA de 139 indivíduos de oito tribos indígenas da Amazônia brasileira e de 18 fragmentos de ossos escavados em diferentes sítios arqueológicos da mesma região, com datação estimada entre 500-4.000 anos antes do presente. As análises revelaram que: i) todas as seqüências de mtDNA de indígenas contemporâneos enquadram-se em um dos haplogrupos (A-D) principais, entretanto, nossos dados são compatíveis com a existência de múltiplos haplótipos fundadores dentro de cada um dos haplogrupos, ii) 39% das seqüências ancestrais de mtDNA não pertencem a nenhum dos quatro haplogrupos. Esses resultados sugerem que as previsões sobre o tempo de chegada dos primeiros ameríndios ao continente podem ter sido superestimadas, e que a diversidade restrita das populações ameríndias atuais pode ser devida, em parte, à redução das populações indígenas durante a colonização européi

PRODH Polymorphisms, Cortical Volumes and Thickness in Schizophrenia

Schizophrenia is a neurodevelopmental disorder with high heritability. Several lines of evidence indicate that the PRODH gene may be related to the disorder. Therefore, our study investigates the effects of 12 polymorphisms of PRODH on schizophrenia and its phenotypes. To further evaluate the roles of the associated variants in the disorder, we have conducted magnetic resonance imaging (MRI) scans to assess cortical volumes and thicknesses. A total of 192 patients were evaluated using the Structured Clinical Interview for DSM-IV (SCID), Positive and Negative Syndrome Scale (PANSS), Calgary Depression Scale, Global Assessment of Functioning (GAF) and Clinical Global Impression (CGI) instruments. the study included 179 controls paired by age and gender. the samples were genotyped using the real-time polymerase chain reaction (PCR), restriction fragment length polymorphism (RFLP)-PCR and Sanger sequencing methods. A sample of 138 patients and 34 healthy controls underwent MRI scans. One polymorphism was associated with schizophrenia (rs2904552), with the G-allele more frequent in patients than in controls. This polymorphism is likely functional, as predicted by PolyPhen and SIFT, but it was not associated with brain morphology in our study. in summary, we report a functional PRODH variant associated with schizophrenia that may have a neurochemical impact, altering brain function, but is not responsible for the cortical reductions found in the disorder.Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Universidade Federal de São Paulo UNIFESP, Disciplina Genet, Dept Morfol & Genet, São Paulo, BrazilUniversidade Federal de São Paulo UNIFESP, LiNC, São Paulo, BrazilUniversidade Federal de São Paulo UNIFESP, Dept Psiquiatria, São Paulo, BrazilFac Med ABC FMABC, Dept Ginecol & Obstet, Disciplina Genet & Reprod Humana, São Paulo, BrazilFed Univ Para, Lab Genet Humana & Med, BR-66059 Belem, Para, BrazilUniv Fed ABC, Ctr Math Computat & Cognit, Santo Andre, BrazilUniversidade Federal de São Paulo UNIFESP, Disciplina Genet, Dept Morfol & Genet, São Paulo, BrazilUniversidade Federal de São Paulo UNIFESP, LiNC, São Paulo, BrazilUniversidade Federal de São Paulo UNIFESP, Dept Psiquiatria, São Paulo, BrazilFAPESP: 2011/50740-5FAPESP: 2007/58736-1Web of Scienc

Performance of the CMS Cathode Strip Chambers with Cosmic Rays

The Cathode Strip Chambers (CSCs) constitute the primary muon tracking device in the CMS endcaps. Their performance has been evaluated using data taken during a cosmic ray run in fall 2008. Measured noise levels are low, with the number of noisy channels well below 1%. Coordinate resolution was measured for all types of chambers, and fall in the range 47 microns to 243 microns. The efficiencies for local charged track triggers, for hit and for segments reconstruction were measured, and are above 99%. The timing resolution per layer is approximately 5 ns

Genetic signatures of parental contribution in black and white populations in Brazil

Two hundred and three individuals classified as white were tested for 11 single nucleotide polymorphisms plus two insertion/deletions in their Y-chromosomes. A subset of these individuals (n = 172) was also screened for sequences in the first hypervariable segment of their mitochondrial DNA (mtDNA). In addition, complementary studies were done for 11 of the 13 markers indicated above in 54 of 107 black subjects previously investigated in this southern Brazilian population. The prevalence of Y-chromosome haplogroups among whites was similar to that found in the Azores (Portugal) or Spain, but not to that of other European countries. About half of the European or African mtDNA haplogroups of these individuals were related to their places of origin, but not their Amerindian counterparts. Persons classified in these two categories of skin color and related morphological traits showed distinct genomic ancestries through the country. These findings emphasize the need to consider in Brazil, despite some general trends, a notable heterogeneity in the pattern of admixture dynamics within and between populations/groups

Performance and Operation of the CMS Electromagnetic Calorimeter

The operation and general performance of the CMS electromagnetic calorimeter using cosmic-ray muons are described. These muons were recorded after the closure of the CMS detector in late 2008. The calorimeter is made of lead tungstate crystals and the overall status of the 75848 channels corresponding to the barrel and endcap detectors is reported. The stability of crucial operational parameters, such as high voltage, temperature and electronic noise, is summarised and the performance of the light monitoring system is presented

Calibration of the CMS Drift Tube Chambers and Measurement of the Drift Velocity with Cosmic Rays

Peer reviewe

Search for three-jet resonances in pp Collisions at √s=7 TeV

This article is published Open Access at sciencedirect.com. It is distributed under the terms of the Creative Commons Attribution License 3.0.-- et al.Results are reported from a search for the production of three-jet resonances in pp collisions at a center-of-mass energy √s=7  TeV. The study uses the data sample collected by the CMS experiment at the LHC in 2011, corresponding to an integrated luminosity of 5.0fb -1. Events with high jet multiplicity and a large scalar sum of jet transverse momenta are analyzed for the presence of resonances in the three-jet invariant mass spectrum. No evidence for a narrow resonance is found in the data, and limits are set on the cross section for gluino pair production in an R-parity-violating supersymmetry model, for gluino masses greater than 280 GeV. Assuming a branching fraction for gluino decay into three jets of 100%, gluino masses below 460 GeV are excluded at 95% confidence level. These results significantly extend the range of previous limits. © 2012 CERN.European Commission; Federal Ministry of Science, Research and Economy (Austria); ); Agency for Innovation by Science and Technology (Belgium); Conselho Nacional de Desenvolvimento Científico e Tecnológico (Brasil); Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (Brasil); Fundação Carlos Chagas Filho de Amparo à Pesquisa do Estado do Rio de Janeiro; Fundação de Amparo à Pesquisa do Estado de São Paulo; Ministry of Science and Technology of the People's Republic of China; National Natural Science Foundation of China; Colciencias (Colombia); Ministry of Science, Education and Sports of the Republic of Croatia; Research Promotion Foundation (Cyprus); Centre National de la Recherche Scientifique (France); Bundesministerium für Bildung und Forschung (Deutschland); Deutsche Forschungsgemeinschaft; General Secretariat of Research and Technology (Greece); Helsinki Institute of Physics; National Office for Research and Technology (Hungary); Institute for Research in Fundamental Sciences (Iran); Science Foundation Ireland; Istituto Nazionale di Fisica Nucleare (Italia); Compagnia di San Paolo (Italia); National Research Foundation of Korea; Centro de Investigación y de Estudios Avanzados del Instituto Politécnico Nacional (México); Consejo Nacional de Ciencia y Tecnología (México); Secretaría de Educación Pública (México); Universidad Autónoma de San Luis Potosí; Ministry of Science and Innovation (New Zealand); Pakistan Atomic Energy Commission; National Science Center (Poland); Fundação para a Ciência e a Tecnologia (Portugal); Joint Institute for Nuclear Research (Russia); Russian Foundation for Basic Research; Ministry of Education, Science and Technological Development (Serbia); Ministerio de Ciencia e Innovación (España); Swiss National Science Foundation.Peer Reviewe

Search for a vector-like quark T′ → tH via the diphoton decay mode of the Higgs boson in proton-proton collisions at s \sqrt{s} = 13 TeV

A search for the electroweak production of a vector-like quark T′, decaying to a top quark and a Higgs boson is presented. The search is based on a sample of proton-proton collision events recorded at the LHC at = 13 TeV, corresponding to an integrated luminosity of 138 fb−1. This is the first T′ search that exploits the Higgs boson decay to a pair of photons. For narrow isospin singlet T′ states with masses up to 1.1 TeV, the excellent diphoton invariant mass resolution of 1–2% results in an increased sensitivity compared to previous searches based on the same production mechanism. The electroweak production of a T′ quark with mass up to 960 GeV is excluded at 95% confidence level, assuming a coupling strength κT = 0.25 and a relative decay width Γ/MT′ < 5%