Side effects of genome structural changes

Alexandre Reymond, Charlotte N. Henrichsen, Louise Harewood, Giuseppe Merla

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)381-386
Number of pages6
JournalCurrent Opinion in Genetics and Development
Issue number5
Publication statusPublished - Oct 2007

ASJC Scopus subject areas

  • Genetics


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