drosophila duplication hotspots are associated with late-replicating regions of the genome果蝇基因组的复制热点与延迟复制区域相关联.pdfVIP

Drosophila Duplication Hotspots Are Associated with Late-Replicating Regions of the Genome 1 2 1 3 Margarida Cardoso-Moreira *, J. J. Emerson , Andrew G. Clark , Manyuan Long 1 Department of Molecular Biology and Genetics, Cornell University, Ithaca, New York, United States of America, 2 Department of Integrative Biology, University of California Berkeley, Berkeley, California, United States of America, 3 Department of Ecology and Evolution, University of Chicago, Chicago, Illinois, United States of America Abstract Duplications play a significant role in both extremes of the phenotypic spectrum of newly arising mutations: they can have severe deleterious effects (e.g. duplications underlie a variety of diseases) but can also be highly advantageous. The phenotypic potential of newly arisen duplications has stimulated wide interest in both the mutational and selective processes shaping these variants in the genome. Here we take advantage of the Drosophila simulans–Drosophila melanogaster genetic system to further our understanding of both processes. Regarding mutational processes, the study of two closely related species allows investigation of the potential existence of shared duplication hotspots, and the similarities and differences between the two genomes can be used to dissect its underlying causes. Regarding selection, the difference in the effective population size between the two species can be leveraged to ask questions about the strength of selection acting on different classes of duplications. In this study, we conducted a survey of duplication polymorphisms in 14 different lines of D. simulans using tiling microarrays and combined it with an analogous survey for the D. melanogast