MC1R gene polymorphisms analysis associated with human pigmentation phenotypes on the brazilian population

Dentre os genes conhecidos por infl uenciarem a variação normal de pigmentação de olhos, pele e cabelos em humanos, o gene MC1R (receptor de melanocortina 1) é o mais bem caracterizado até o momento. A atuação do MC1R ocorre pela produção de uma proteína transmembrana nos melanócitos, responsável pela regulação da produção de melanina nos mesmos. Sabe-se que a atuação do MC1R determina a proporção entre eumelanina (coloração castanha/preta) e feomelanina (amarela/vermelha) presente nos melanócitos. O presente trabalho tem como objetivo analisar os SNPs conhecidos do gene MC1R com o propósito de se avaliar a infl uência da diversidade deste gene em características como a presença de sardas e variação da pigmentação dos olhos, pele e cabelos em humanos. Foram analisados 29 SNPs conhecidos da região codifi cadora do gene MC1R em 296 indivíduos da região de Ribeirão Preto, SP. A extração do DNA foi feita pela técnica de salting-out. A região codifi cadora do gene MC1R (951pb) foi amplifi cada em uma única reação de PCR, a qual foi sequenciada em um analisador genético ABI-PRISM 310 por eletroforese capilar, utilizando-se os mesmos primers empregados para a amplifi cação. Dos 29 SNPs avaliados, 22 deles mostraram variação nas amostras estudadas, sendo que metade deles demonstrou estar associados a características de pigmentação. Observou-se um conjunto de SNPs associados claramente à fenótipos relacionados à feomelanina (+1645 A, +1831 T,+1858 T e +2260 C), enquanto outros se relacionam à ocorrência de eumelanina (+1558 G, +2322 G, +2346 A). O presente trabalho apresenta associações signifi cativas entre SNPs individuais e pigmentação de olhos, cabelos e pele, sendo que nosso dados confi rmam que tal gene também desempenha papel relevante na variação de pigmentação na população Brasileira.Among the known genes infl uencing eye, skin and hair normal pigmentation variation, the MC1R (melanocortin 1-receptor) gene is the best characterized so far. The activity of MC1R occurs due the production of a transmembrane protein in melanocytes, responsible for regulating the production of melanin. It is known that the performance of MC1R determines the ratio of eumelanin (brown /black color) and pheomelanin (yellow/ red) present in melanocytes. This study aims to analyze known SNPs of the MC1R gene in order to evaluate the infl uence of this gene diversity on features like freckles and pigmentation variation of eyes, skin and hair in humans. We analyzed 29 known SNPs in the coding region of MC1R gene in 296 individuals from the region of Ribeirão Preto, Brazil. DNA extraction was performed using the salting-out technique. The MC1R gene coding region (951pb) was amplifi ed in a single PCR reaction, which was sequenced on a ABI PRISM-310 genetic analyzer by capillary electrophoresis, using the same primers used for amplifi cation. Of the 29 SNPs evaluated, only 22 showed variation in the samples studied, half of them showing to be associated with pigmentation characteristics. We observed a set of SNPs clearly associated to pheomelanin (+1645 A, +1831 T,+1858 T e +2260 C), while others related to eumelanin occurrence (+1558 G, +2322 G, +2346 A). Our study shows signifi cant associations between individual SNPs and eyes, hair and skin pigmentation. The results presented here confi rm that this gene also plays a relevant role in the pigmentation variation in the Brazilian population

Os efeitos do cigarro e do consumo de café sobre a formação óssea e a integração óssea de implantes de hidroxiapatita

The present study aims to assess the effects of cigarette smoke inhalation and/or coffee consumption on bone formation and osseous integration of a dense hydroxyapatite (DHA) implant in rats. For this study, 20 male rats were divided into four groups (n = 5): CT (control) group, CE (coffee) group, CI (cigarette) group and CC (coffee + cigarette) group. During 16 weeks, animals in the CI group were exposed to cigarette smoke inhalation equivalent to 6 cigarettes per day; specimens in the CE group drank coffee as liquid diet; and rats in the CC group were submitted to both substances. In the 6th week a 5 mm slit in the parietal bone and a 4 mm slit in the tibia were performed on the left side: the former was left open while the latter received a DHA implant. As soon as surgeries were finished, the animals returned to their original protocols and after 10 weeks of exposure they were euthanised (ethically sacrificed) and the mentioned bones collected for histological processing. Data showed that exposure to cigarette smoke inhalation and coffee consumption did not interfere in weight gain and that solid and liquid diet consumption was satisfactory. Rats in the CC group showed a decrease in bone neoformation around the tibial DHA implant (31.8 ± 2.8) as well as in bone formation in the parietal slit (28.6 ± 2.2). On their own, cigarette smoke inhalation or coffee consumption also led to diminished bone neoformation around the implant and delayed the bone repair process in relation to the CT group. However, reduction in the bone repair process was accentuated with exposure to both cigarette smoke inhalation and coffee consumption in this study.O presente estudo teve como objetivo avaliar os efeitos do tabagismo e do consumo de café, isolada ou concomitantemente, sobre a formação óssea e a osseointegração de implantes hidroxiapatita densa. Foram utilizados 20 ratos machos, divididos em quatro grupos (n = 5): grupo CT (controle); grupo CA (café); grupo CI (cigarro), e grupo CC (cigarro + café). Durante 16 semanas, os animais do grupo CI foram expostos à fumaça de seis cigarros/dia; os animais do grupo CA consumiram café como dieta líquida, e os animais do grupo CC, ambas as substâncias. Após seis semanas de exposição, uma falha óssea de 5 mm foi produzida no osso parietal esquerdo e de 4 mm, na tíbia esquerda dos animais. A falha do parietal foi mantida aberta, enquanto na tíbia corpos cerâmicos de hidroxiapatita densa (HAD) foram implantados em cavidade produzida cirurgicamente. Após as cirurgias, os animais retornaram aos protocolos experimentais e, ao término de dez semanas, foram eutanasiados, sendo as tíbias e os parietais coletados para processamento histológico. A exposição à fumaça do cigarro e o consumo de café não interferiram no ganho de peso dos animais, e os consumos de dieta líquida e sólida foram satisfatórios entre os grupos. Os animais do grupo CC apresentaram menor volume de osso neoformado ao redor do implante de HAD na tíbia (31,8 ± 2,8) e menor osteogênese na falha produzida no osso parietal (28,6 ± 2,2). O café e o cigarro consumidos isoladamente provocam a diminuição do volume de osso ao redor do implante e o atraso no processo de reparação óssea. Observou-se que o consumo de café associado à exposição à fumaça do cigarro reduziu de forma acentuada o processo de reparação óssea, no presente estudo.17317

Os efeitos do cigarro e do consumo de café sobre a formação óssea e a integração óssea de implantes de hidroxiapatita

The present study aims to assess the effects of cigarette smoke inhalation and/or coffee consumption on bone formation and osseous integration of a dense hydroxyapatite (DHA) implant in rats. For this study, 20 male rats were divided into four groups (n = 5): CT (control) group, CE (coffee) group, CI (cigarette) group and CC (coffee + cigarette) group. During 16 weeks, animals in the CI group were exposed to cigarette smoke inhalation equivalent to 6 cigarettes per day; specimens in the CE group drank coffee as liquid diet; and rats in the CC group were submitted to both substances. In the 6th week a 5 mm slit in the parietal bone and a 4 mm slit in the tibia were performed on the left side: the former was left open while the latter received a DHA implant. As soon as surgeries were finished, the animals returned to their original protocols and after 10 weeks of exposure they were euthanised (ethically sacrificed) and the mentioned bones collected for histological processing. Data showed that exposure to cigarette smoke inhalation and coffee consumption did not interfere in weight gain and that solid and liquid diet consumption was satisfactory. Rats in the CC group showed a decrease in bone neoformation around the tibial DHA implant (31.8 ± 2.8) as well as in bone formation in the parietal slit (28.6 ± 2.2). On their own, cigarette smoke inhalation or coffee consumption also led to diminished bone neoformation around the implant and delayed the bone repair process in relation to the CT group. However, reduction in the bone repair process was accentuated with exposure to both cigarette smoke inhalation and coffee consumption in this study.O presente estudo teve como objetivo avaliar os efeitos do tabagismo e do consumo de café, isolada ou concomitantemente, sobre a formação óssea e a osseointegração de implantes hidroxiapatita densa. Foram utilizados 20 ratos machos, divididos em quatro grupos (n = 5): grupo CT (controle); grupo CA (café); grupo CI (cigarro), e grupo CC (cigarro + café). Durante 16 semanas, os animais do grupo CI foram expostos à fumaça de seis cigarros/dia; os animais do grupo CA consumiram café como dieta líquida, e os animais do grupo CC, ambas as substâncias. Após seis semanas de exposição, uma falha óssea de 5 mm foi produzida no osso parietal esquerdo e de 4 mm, na tíbia esquerda dos animais. A falha do parietal foi mantida aberta, enquanto na tíbia corpos cerâmicos de hidroxiapatita densa (HAD) foram implantados em cavidade produzida cirurgicamente. Após as cirurgias, os animais retornaram aos protocolos experimentais e, ao término de dez semanas, foram eutanasiados, sendo as tíbias e os parietais coletados para processamento histológico. A exposição à fumaça do cigarro e o consumo de café não interferiram no ganho de peso dos animais, e os consumos de dieta líquida e sólida foram satisfatórios entre os grupos. Os animais do grupo CC apresentaram menor volume de osso neoformado ao redor do implante de HAD na tíbia (31,8 ± 2,8) e menor osteogênese na falha produzida no osso parietal (28,6 ± 2,2). O café e o cigarro consumidos isoladamente provocam a diminuição do volume de osso ao redor do implante e o atraso no processo de reparação óssea. Observou-se que o consumo de café associado à exposição à fumaça do cigarro reduziu de forma acentuada o processo de reparação óssea, no presente estudo.Universidade José do Rosário VellanoUniversidade Federal de São Paulo (UNIFESP) Escola Paulista de MedicinaUniversidade Federal de AlfenasUniversidade Estadual de CampinasUniversidade José do Rosário Vellano Faculdade de MedicinaUNIFESP, EPMSciEL

Effect of Stocking Density and Sex on Feathering, Body Injury and Breast Meat Quality of Broiler Chikens

The experiment was conducted at the College of Veterinary Medicine and Animal Production of UNESP-Botucatu Campus to evaluate the effect of stocking densities and sex on body injuries and breast meat quality. One thousand nine hundred and fifty day-old Ross chicks were reared until 42 days of age on a randomized factorial arrangement with three stock densities (10, 13 and 16 birds/m²) and two sexes. At 28, 35 and 42 days of age, 15 birds/treatment were sampled to determine feathering percentage related to body weight and 50 birds/treatment to evaluate score feathering. At 42 days of age, all broilers were processed to evaluate body injuries and breast meat quality. Increasing stocking densities decreased feathering and increased body injuries like breast blisters, dermatitis, bruises and scratches. Breast meat yield and breast length width and depth was negatively affected (p<.05) as stocking densities increased.O experimento foi conduzido nas instalações experimentais da Faculdade de Medicina Veterinária e Zootecnia - UNESP, Campus de Botucatu, SP, Brasil, com o objetivo de avaliar o efeito da densidade de criação e do sexo sobre o empenamento, incidência de lesões na carcaça e a qualidade de carne de peito de frangos de corte. Foram utilizados 1950 pintos de corte sexados, da linhagem Ross, distribuídos em um delineamento inteiramente casualizado, com esquema fatorial com 3 densidades (10, 13 e 16 aves/m²) e dois sexos com 5 repetições, sendo que uma foi destinada exclusivamente para reserva, criados até os 42 dias de idade. Aos 28, 35 e 42 dias foram amostradas 3 aves por repetição para a determinação do empenamento através da porcentagem de penas e 10 aves para a determinação do escore de empenamento. Também aos 42 dias de idade todas as aves foram identificadas na pata com anilhas numeradas e submetidas à avaliação da incidência de lesões na pele. Foram escolhidas ao acaso 5 aves por repetição para a determinação da qualidade da carne de peito. Pode-se concluir que o aumento na densidade de criação promoveu uma diminuição na velocidade de empenamento e, conseqüentemente, uma maior incidência de lesões na carcaça. O comprimento, a largura e a espessura do peito foram menores para as aves criadas na maior densidade, e a perda de peso por cozimento foi maior para as aves criadas na maior densidade.000

HFE gene polymorphism defined by sequence based typing of the Brazilian population and a standardized nomenclature for HFE allele sequences

The HFE molecule controls iron uptake from gut, and defects in the molecule have been associated with iron overload, particularly in hereditary hemochromatosis. The HFE gene including both coding and boundary intronic regions were sequenced in 304 Brazilian individuals, encompassing healthy individuals and patients exhibiting hereditary or acquired iron overload. Six sites of variation were detected: i) H63D C > G in exon 2, ii) IVS2 (+4) T > C in intron 2, iii) a C > G transversion in intron 3, iv) C282Y G > A in exon 4, v) IVS4 (-44) T > C in intron 4, and vi) a new Guanine deletion (G > del) in intron 5, which were used for haplotype inference. Nine HFE alleles were detected and six of these were officially named on the basis of the HLA Nomenclature, defined by the WHO Nomenclature Committee for Factors of the HLA System, and published via the IPD-IMGT/HLA website. Four alleles, HFE*001, 002, 003 and 004 exhibited variation within their exon sequences

Bayesian inference of biochemical kinetic parameters using the linear noise approximation

Background Fluorescent and luminescent gene reporters allow us to dynamically quantify changes in molecular species concentration over time on the single cell level. The mathematical modeling of their interaction through multivariate dynamical models requires the deveopment of effective statistical methods to calibrate such models against available data. Given the prevalence of stochasticity and noise in biochemical systems inference for stochastic models is of special interest. In this paper we present a simple and computationally efficient algorithm for the estimation of biochemical kinetic parameters from gene reporter data. Results We use the linear noise approximation to model biochemical reactions through a stochastic dynamic model which essentially approximates a diffusion model by an ordinary differential equation model with an appropriately defined noise process. An explicit formula for the likelihood function can be derived allowing for computationally efficient parameter estimation. The proposed algorithm is embedded in a Bayesian framework and inference is performed using Markov chain Monte Carlo. Conclusion The major advantage of the method is that in contrast to the more established diffusion approximation based methods the computationally costly methods of data augmentation are not necessary. Our approach also allows for unobserved variables and measurement error. The application of the method to both simulated and experimental data shows that the proposed methodology provides a useful alternative to diffusion approximation based methods

Utilization of nitrogen from green manure and mineral fertilizer by sugarcane

Given their potential for biological nitrogen fixation, legumes used as green manure are an alternative source of nitrogen to crops, and can supplement or even replace mineral nitrogen fertilization. The utilization of nitrogen by sugarcane (Saccharum spp.) fertilized with sunn hemp (Crotalaria juncea L.) and ammonium sulphate (AS) was evaluated using the N-15 tracer technique. Amounts of 195.8 kg and 70 kg N per hectare, respectively, of sunn hemp and AS were added in the following treatments: without green manure and without AS; without green manure, with AS -N-15; with green manure-N-15 and with AS; with green manure-N-15, without AS; with green manure and with AS-N-15. Four samples from the leaves +3 were collected and 2 in of the sugar cane row were harvested to estimate crop yield. The results for N contents (g kg(-1)), isotopic abundance of N (atoms % N-15) in leaf +3 samples, and sugarcane productivity were used to calculate cumulative N, nitrogen in the plant derived from the fertilizer-Ndff (% and kg ha(-1)), as well as percent recovery of fertilizer N (R%). Sugarcane was analysed and pol and total recovered sugar calculated. The highest Ndff percentages were observed eight months after sugarcane planting for treatments containing green manure without mineral N, and green manure with mineral N, at 15.3 and 18.4%, respectively. The best nitrogen recovery was observed during harvest, 18 months after planting; the treatment containing mineral fertilizer showed 34.4% recovery, while the sum between mineral N plus green manure N showed 40.0%. Treatments containing green manure plus mineral N changed soil attributes, by increasing Ca and Mg contents, sum of bases, pH, and base saturation, and decreasing potential acidity. In the plant, those treatments increased Ca and K contents.62653454

Comparing the Performances of Apes (Gorilla gorilla, Pan troglodytes, Pongo pygmaeus) and Human Children (Homo sapiens) in the Floating Peanut Task

Recently, Mendes et al. [1] described the use of a liquid tool (water) in captive orangutans. Here, we tested chimpanzees and gorillas for the first time with the same “floating peanut task.” None of the subjects solved the task. In order to better understand the cognitive demands of the task, we further tested other populations of chimpanzees and orangutans with the variation of the peanut initially floating or not. Twenty percent of the chimpanzees but none of the orangutans were successful. Additional controls revealed that successful subjects added water only if it was necessary to obtain the nut. Another experiment was conducted to investigate the reason for the differences in performance between the unsuccessful (Experiment 1) and the successful (Experiment 2) chimpanzee populations. We found suggestive evidence for the view that functional fixedness might have impaired the chimpanzees' strategies in the first experiment. Finally, we tested how human children of different age classes perform in an analogous experimental setting. Within the oldest group (8 years), 58 percent of the children solved the problem, whereas in the youngest group (4 years), only 8 percent were able to find the solution