Gene copy-number alterations: a cost-benefit analysis

Cell. 2013 Jan 31;152(3):394-405. doi: 10.1016/j.cell.2012.11.043.


Changes in DNA copy number, whether confined to specific genes or affecting whole chromosomes, have been identified as causes of diseases and developmental abnormalities and as sources of adaptive potential. Here, we discuss the costs and benefits of DNA copy-number alterations. Changes in DNA copy number are largely detrimental. Amplifications or deletions of specific genes can elicit discrete defects. Large-scale changes in DNA copy number can also cause detrimental phenotypes that are due to the cumulative effects of copy-number alterations of many genes simultaneously. On the other hand, studies in microorganisms show that DNA copy-number alterations can be beneficial, increasing survival under selective pressure. As DNA copy-number alterations underlie many human diseases, we will end with a discussion of gene copy-number changes as therapeutic targets.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Aneuploidy*
  • Animals
  • DNA Copy Number Variations*
  • Gene Dosage
  • Gene Expression
  • Genetic Fitness
  • Humans
  • Neoplasms / genetics
  • Plants / genetics
  • Polyploidy*
  • Yeasts / genetics
  • Yeasts / physiology