8 research outputs found

    Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci

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    Analysis of de novo CNVs (dnCNVs) from the full Simons Simplex Collection (SSC) (N = 2,591 families) replicates prior findings of strong association with autism spectrum disorders (ASDs) and confirms six risk loci (1q21.1, 3q29, 7q11.23, 16p11.2, 15q11.2-13, and 22q11.2). The addition of published CNV data from the Autism Genome Project (AGP) and exome sequencing data from the SSC and the Autism Sequencing Consortium (ASC) shows that genes within small de novo deletions, but not within large dnCNVs, significantly overlap the high-effect risk genes identified by sequencing. Alternatively, large dnCNVs are found likely to contain multiple modest-effect risk genes. Overall, we find strong evidence that de novo mutations are associated with ASD apart from the risk for intellectual disability. Extending the transmission and de novo association test (TADA) to include small de novo deletions reveals 71 ASD risk loci, including 6 CNV regions (noted above) and 65 risk genes (FDR ≤ 0.1). Through analysis of de novo mutations in autism spectrum disorder (ASD), Sanders et al. find that small deletions, but not large deletions/duplications, contain one critical gene. Combining CNV and sequencing data, they identify 6 loci and 65 genes associated with ASD. © 2015 Elsevier Inc

    Dieta de Micoureus demerarae (Thomas) (Mammalia, Didelphidae) associada às florestas contíguas de mangue e terra firme em Bragança, Pará, Brasil Diet of Micoreus demerarae (Thomas) (Mammalia, Didelphidae) associated with contiguous forests of mangrove and terra firme in Bragança, Pará, Brazil

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    A dieta de Micoureus demerarae (Thomas, 1905) foi estudada em bosques de mangue e terra firme através de amostras estomacais e fecais. O número de indivíduos capturados foi inversamente proporcional à disponibilidade de frutos e insetos, sendo Coleoptera e Hemiptera as ordens de artrópodes mais consumidos e Passifloraceae e Arecaceae os frutos mais ingeridos. Desse modo, tanto a maior variabilidade de frutos como a alta produção destes durante a estação seca, parecem explicar o aumento da captura desses animais nos bosques de terra firme, dos quais são originalmente provenientes. Os itens alimentares sugerem que esta espécie possui uma dieta do tipo onívora, independentemente da sazonalidade ou distribuição dos recursos disponíveis.<br>The diet of Micoureus demerarae (Thomas, 1905) was studied in mangrove and terra firme stands by using stomachal and faecal samples. The number of captured individuals was inversely proportional to availability of fruits and insects, being Coleoptera and Hemiptera the most consumed arthropod orders and Passifloraceae and Arecaceae the most ingested fruits. Thus, either fruits variability or their high yield during the dry season seem to explain the increase of captured animals in the terra firme stands, where they originally come from. The food items suggest that this species has an omnivorous diet, independently of the seasonality or distribution of available resources

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