43 research outputs found

    Comparative Analysis of Teleost Genome Sequences Reveals an Ancient Intron Size Expansion in the Zebrafish Lineage

    Get PDF
    We have developed a bioinformatics pipeline for the comparative evolutionary analysis of Ensembl genomes and have used it to analyze the introns of the five available teleost fish genomes. We show our pipeline to be a powerful tool for revealing variation between genomes that may otherwise be overlooked with simple summary statistics. We identify that the zebrafish, Danio rerio, has an unusual distribution of intron sizes, with a greater number of larger introns in general and a notable peak in the frequency of introns of approximately 500 to 2,000 bp compared with the monotonically decreasing frequency distributions of the other fish. We determine that 47% of D. rerio introns are composed of repetitive sequences, although the remainder, over 331 Mb, is not. Because repetitive elements may be the origin of the majority of all noncoding DNA, it is likely that the remaining D. rerio intronic sequence has an ancient repetitive origin and has since accumulated so many mutations that it can no longer be recognized as such. To study such an ancient expansion of repeats in the Danio, lineage will require further comparative analysis of fish genomes incorporating a broader distribution of teleost lineages

    Multiple novel prostate cancer susceptibility signals identified by fine-mapping of known risk loci among Europeans

    Get PDF
    Genome-wide association studies (GWAS) have identified numerous common prostate cancer (PrCa) susceptibility loci. We have fine-mapped 64 GWAS regions known at the conclusion of the iCOGS study using large-scale genotyping and imputation in 25 723 PrCa cases and 26 274 controls of European ancestry. We detected evidence for multiple independent signals at 16 regions, 12 of which contained additional newly identified significant associations. A single signal comprising a spectrum of correlated variation was observed at 39 regions; 35 of which are now described by a novel more significantly associated lead SNP, while the originally reported variant remained as the lead SNP only in 4 regions. We also confirmed two association signals in Europeans that had been previously reported only in East-Asian GWAS. Based on statistical evidence and linkage disequilibrium (LD) structure, we have curated and narrowed down the list of the most likely candidate causal variants for each region. Functional annotation using data from ENCODE filtered for PrCa cell lines and eQTL analysis demonstrated significant enrichment for overlap with bio-features within this set. By incorporating the novel risk variants identified here alongside the refined data for existing association signals, we estimate that these loci now explain ∼38.9% of the familial relative risk of PrCa, an 8.9% improvement over the previously reported GWAS tag SNPs. This suggests that a significant fraction of the heritability of PrCa may have been hidden during the discovery phase of GWAS, in particular due to the presence of multiple independent signals within the same regio

    The problem of behaviour change: From social norms to an ingroup focus

    No full text
    Social norms are of increasing interest to public policy experts and those conducting behaviour change interventions (e.g. safe driving, recycling). While there is agreement that social norms play a central role in explaining behaviour, such consensus i

    Does Education Really Change Us? The Impact of School Based Social Processes on the Person

    No full text
    A critical question is whether education per se contributes to these outcomes or whether educated people have other characteristics that confer these advantages. It may be that those who are more educated begin life with biologically determined abilities, family-based assets, and/or knowledge and habits that foster success in a school context. These are complex variables to fully disentangle. The approach in education and social psychology is to investigate contextual factors of interest using longitudinal (assessing the same person across time) or experimental (with random assignment to an intervention and control group) research designs. In this way, it is possible to control for ability and demographic characteristics such as parental education and socioeconomic status. Evidence that interventions, for example, that vary teacher expectations of student ability (high vs. low) or students’ own beliefs about intellectual ability’s (fixed or malleable), impact on academic achievement is used to support the idea that the educational setting, under certain conditions, can transform behavior
    corecore