Mutational bias shaping fly copy number variation: implications for genome evolution

Trends Genet. 2010 Apr 21. [Epub ahead of print]
Mutational bias shaping fly copy number variation: implications for genome evolution.

Department of Ecology and Evolution, University of Chicago, 1101 E 57(th) St. 60637 Chicago, IL, USA; Graduate Program in Areas of Basic and Applied Biology, Universidade do Porto, Porto, Portugal; Faculdade de Ciências, Universidade do Porto, Rua do Campo Alegre, s/n, 4169-007 Porto, Portugal.
Abstract

Copy number variants (CNVs) underlie several genomic disorders and are a major source of genetic innovation. Consequently, any bias affecting their placement in the genome will impact our understanding of human disease and genome evolution. Here we report a mutational bias affecting CNVs that generates different probabilities of duplication and deletion across the genome in association with DNA replication time. We show that this mutational bias has important consequences for genome evolution by leading to different probabilities of gene duplication for different classes of genes and by linking the probability of gene duplication with the transcriptional activity of genes. Copyright © 2010 Elsevier Ltd. All rights reserved.

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