102 research outputs found

    Discovery and fine-mapping of glycaemic and obesity-related trait loci using high-density imputation

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    Reference panels from the 1000 Genomes (1000G) Project Consortium provide near complete coverage of common and low-frequency genetic variation with minor allele frequency ≥0.5% across European ancestry populations. Within the European Network for Genetic and Genomic Epidemiology (ENGAGE) Consortium, we have undertaken the first large-scale meta-analysis of genome-wide association studies (GWAS), supplemented by 1000G imputation, for four quantitative glycaemic and obesity-related traits, in up to 87,048 individuals of European ancestry. We identified two loci for body mass index (BMI) at genome-wide significance, and two for fasting glucose (FG), none of which has been previously reported in larger meta-analysis efforts to combine GWAS of European ancestry. Through conditional analysis, we also detected multiple distinct signals of association mapping to established loci for waist-hip ratio adjusted for BMI (RSPO3) and FG (GCK and G6PC2). The index variant for one association signal at the G6PC2 locus is a low-frequency coding allele, H177Y, which has recently been demonstrated to have a functional role in glucose regulation. Fine-mapping analyses revealed that the non-coding variants most likely to drive association signals at established and novel loci were enriched for overlap with enhancer elements, which for FG mapped to promoter and transcription factor binding sites in pancreatic islets, in particular. Our study demonstrates that 1000G imputation and genetic fine-mapping of common and low-frequency variant association signals at GWAS loci, integrated with genomic annotation in relevant tissues, can provide insight into the functional and regulatory mechanisms through which their effects on glycaemic and obesity-related traits are mediated

    Discovery and Fine-Mapping of Glycaemic and Obesity-Related Trait Loci Using High-Density Imputation

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    Reference panels from the 1000 Genomes (1000G) Project Consortium provide near complete coverage of common and low-frequency genetic variation with minor allele frequency ≄0.5% across European ancestry populations. Within the European Network for Genetic and Genomic Epidemiology (ENGAGE) Consortium, we have undertaken the fi

    A Survey of mid and large bodied mammals in NĂșcleo Caraguatatuba, Serra do Mar State Park, Brazil

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    NĂłs aplicamos tĂ©cnicas de amostragem complementares para obter uma lista de espĂ©cies de mamĂ­feros de mĂ©dio e grande porte no NĂșcleo Caraguatatuba, Parque Estadual da Serra do Mar, Brasil. As amostragens de campo realizaram-se nos meses de Maio e Setembro de 2011. Utilizou-se, censo ao longo de transectos (212,4 km), armadilhas fotogrĂĄficas (223,2 armadilhas-dias) e armadilhas de pegadas (478 armadilhas-dias). Foram obtidos registros de 18 espĂ©cies, pertencentes a 14 famĂ­lias e oito ordens. NĂłs registramos a presença de sete espĂ©cies consideradas ameaçadas no Estado de SĂŁo Paulo, incluindo primatas (Brachyteles arachnoides), Artiodactyla (Mazama americana e Tayassu pecari), Carnivora (Leopardus pardalis, Leopardus tigrinus e Puma concolor) e Perissodactyla (Tapirus terrestris). Com base em numa extrapolação da riqueza de espĂ©cies (First order jackknife) nĂłs prevemos que existem entre 19 e 32 espĂ©cies de mamĂ­feros de mĂ©dio e grande porte no NĂșcleo. Nosso Mammal Priority Index classificou o NĂșcleo Caraguatatuba como uma ĂĄrea de importĂąncia mĂ©dia para a conservação de mamĂ­feros de mĂ©dio e grande porte na Mata AtlĂąntica. Combinado com o nĂșmero e a diversidade de espĂ©cies registradas, nossos resultados demonstram que este NĂșcleo Ă© uma ĂĄrea importante para a conservação de mamĂ­feros no Estado.We applied complementary survey techniques to obtain a baseline species list of mid and large bodied mammals in NĂșcleo Caraguatatuba, Serra do Mar State park, Brazil. Between May and September 2011 we surveyed the community of mid and large bodied mammals using diurnal line transect census (212.4 km), camera-traps (223.2 camera-trap days) and track-stations (478 track-station days). A total of 18 species were recorded from 14 families in eight orders. We recorded the presence of seven species considered threatened in the State of SĂŁo Paulo, including Primates (Brachyteles arachnoides), Artiodactyla (Mazama cf. americana and Tayassu pecari), Carnivora (Leopardus pardalis, Leopardus tigrinus and Puma concolor) and Perissodactyla (Tapirus terrestris). Based on extrapolated (First order jackknife) species richness estimates we predict that there are between 19 and 32 species of mid and large bodied mammals in the NĂșcleo. Our revised Mammal Priority Index ranked NĂșcleo Caraguatatuba as being of medium overall importance for the conservation of mid and large bodied mammals in the Atlantic Forest. Combined with the number and diversity of species recorded, our results demonstrate that this NĂșcleo is an important area for mammal conservation

    The species of muntjac (genus Muntiacus) in Borneo: unrecognised sympatry in tropical deer

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    The hypothesis, originated by Kohlbrugge (1895) and supported by Lyon (1911), Van Bemmel (1952) and Hill (1960), that there are two taxonomically distinct muntjac (genus Muntiacus Rafinesque, 1815) on Borneo is supported by studies of abundant skin and skull material. The two are widely sympatric, so must rank as distinct species. One represents the widespread M. muntjak (Zimmermann, 1780) of southeast and south Asia, while the other is endemic. The type material of Cervulus pleiharicus Kohlbrugge, 1895 consisted of a skin and frontlet with antlers. As the skin has been lost, the frontlet is designated as lectotype. It represents M. muntjak, as does the type of M. rubidus Lyon, 1911, so that the endemic species of Borneo is without a name. It is hereby designated Muntiacus atherodes. The two species are diagnosed, described fully, and discussed

    Fig. 7 in A revision of the genus Zaglossus (Monotremata, Tachyglossidae), with description of new species and subspecies

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    Fig. 7. - Skin of holotype of Zaglossus bartoni smeenki n. ssp

    Skull morphometrics of Lasiorhinus latifrons (Owen 1845) (Marsupialia : Vombatidae)

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    Osteological differences of the skulls of lasiorhinus-latifrons Owen, 1845 and vombatus-ursinus shaw, 1800 (marsupialia: Vombatidae)

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    The two extant genera of wombats, the hairy-nosed wombat Lasiorhinus latifrons and common wombat Vombatus ursinus, are distinguishable by their skull morphology. Significant size differences were found for skull length, nasal length binasal breadth, bitemporal breadth, bizygomatic breadth, parietal bone thickness and mandible length. The important different gross morphological features are summarised to allow rapid identification of these two species. A number of new diagnostic differences are described which distinguish the species from dorsal, lateral and ventral views and on the basis of mandibles and dentition. Some of these differences, and those listed in the results, also distinguish the Pleistocene fossil wombats V. mitchelli (Owen, 1838) and L. krefftii (Owen, 1871) from each other, and strongly suggest their generic status
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