Mechanisms of gene duplication and amplification

Andrew B. Reams, John R. Roth

Research output: Contribution to journalArticlepeer-review

107 Scopus citations


Changes in gene copy number are among the most frequent mutational events in all genomes and were among the mutations for which a physical basis was first known. Yet mechanisms of gene duplication remain uncertain because formation rates are difficult to measure and mechanisms may vary with position in a genome. Duplications are compared here to deletions, which seem formally similar but can arise at very different rates by distinct mechanisms. Methods of assessing duplication rates and dependencies are described with several proposed formation mechanisms. Emphasis is placed on duplications formed in extensively studied experimental situations. Duplications studied in microbes are compared with those observed in metazoan cells, specifically those in genomes of cancer celIs. Duplications, and especially their derived amplifications, are suggested to form by multistep processes often under positive selection for increased copy number.

Original languageEnglish (US)
Article numbera016592
JournalCold Spring Harbor perspectives in biology
Issue number2
StatePublished - 2015
Externally publishedYes

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)


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