27 research outputs found

    The landscape of inherited and de novo copy number variants in a plasmodium falciparum genetic cross

    Get PDF
    <p>Abstract</p> <p>Background</p> <p>Copy number is a major source of genome variation with important evolutionary implications. Consequently, it is essential to determine copy number variant (CNV) behavior, distributions and frequencies across genomes to understand their origins in both evolutionary and generational time frames. We use comparative genomic hybridization (CGH) microarray and the resolution provided by a segregating population of cloned progeny lines of the malaria parasite, <it>Plasmodium falciparum</it>, to identify and analyze the inheritance of 170 genome-wide CNVs.</p> <p>Results</p> <p>We describe CNVs in progeny clones derived from both Mendelian (i.e. inherited) and non-Mendelian mechanisms. Forty-five CNVs were present in the parent lines and segregated in the progeny population. Furthermore, extensive variation that did not conform to strict Mendelian inheritance patterns was observed. 124 CNVs were called in one or more progeny but in neither parent: we observed CNVs in more than one progeny clone that were not identified in either parent, located more frequently in the telomeric-subtelomeric regions of chromosomes and singleton <it>de novo </it>CNVs distributed evenly throughout the genome. Linkage analysis of CNVs revealed dynamic copy number fluctuations and suggested mechanisms that could have generated them. Five of 12 previously identified expression quantitative trait loci (eQTL) hotspots coincide with CNVs, demonstrating the potential for broad influence of CNV on the transcriptional program and phenotypic variation.</p> <p>Conclusions</p> <p>CNVs are a significant source of segregating and <it>de novo </it>genome variation involving hundreds of genes. Examination of progeny genome segments provides a framework to assess the extent and possible origins of CNVs. This segregating genetic system reveals the breadth, distribution and dynamics of CNVs in a surprisingly plastic parasite genome, providing a new perspective on the sources of diversity in parasite populations.</p

    Pupil Engaged Learning Time: Concepts, Findings and Implications

    No full text
    Contrary to the claims of pessimists and soothsayers who would have us believe that the area of research on teaching is essentially barren and unproductive with few consistent findings that are usable in classrooms, this paper seeks to dispel some of this gloom by focusing on an area that not only has a well established research tradition, but which is generating considerable interest at the moment. Recent research has substantiated what classroom practitioners have long believed about the relationship between pupil engagement and achievement. Furthermore, consistent teaching behaviours and classroom variables are beginning to emerge that are associated with pupil engagement on learning tasks. Systematic and detailed analysis of the related variables incorporated under “academic learning time” represent one of the most hopeful leading edges at the moment in research on teaching
    corecore