title: Side effects of genome structural changes.
abstract: The first extensive catalog of structural human variation was recently released. It showed that large stretches of genomic DNA that vary considerably in copy number were extremely abundant. Thus it is conceivable that they play a major role in functional variation. Consistently, genomic insertions and deletions were shown to contribute to phenotypic differences by modifying not only the expression levels of genes within the aneuploid segments but also of normal copy-number neighboring genes. In this report, we review the possible mechanisms behind this latter effect.
authors.affiliation: Center for Integrative Genomics, Genopode Building, University of Lausanne, CH-1015 Lausanne, Switzerland. Alexandre.Reymond@unil.ch
authors.forename: Alexandre
authors.initials: A
authors.lastname: Reymond
authors.forename: Charlotte N
authors.initials: CN
authors.lastname: Henrichsen
authors.forename: Louise
authors.initials: L
authors.lastname: Harewood
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Merla
mesh_terms: D014644:Genetic Variation; D015894:Genome, Human; D006801:Humans; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D017422:Sequence Analysis, DNA; D014158:Transcription, Genetic