Scientific article

Gene duplication: a drive for phenotypic diversity and cause of human disease

Published inAnnual review of genomics and human genetics, vol. 8, p. 17-35
Publication date2007

Gene duplication is one of the key factors driving genetic innovation, i.e., producing novel genetic variants. Although the contribution of whole-genome and segmental duplications to phenotypic diversity across species is widely appreciated, the phenotypic spectrum and potential pathogenicity of small-scale duplications in individual genomes are less well explored. This review discusses the nature of small-scale duplications and the phenotypes produced by such duplications. Phenotypic variation and disease phenotypes induced by duplications are more diverse and widespread than previously anticipated, and duplications are a major class of disease-related genomic variation. Pathogenic duplications particularly involve dosage-sensitive genes with both similar and dissimilar over- and underexpression phenotypes, and genes encoding proteins with a propensity to aggregate. Phenotypes related to human-specific copy number variation in genes regulating environmental responses and immunity are increasingly recognized. Small genomic duplications containing defense-related genes also contribute to complex common phenotypes.

  • Animals
  • Dosage Compensation, Genetic/physiology
  • Evolution, Molecular
  • Gene Dosage/physiology
  • Gene Duplication
  • Gene Expression Regulation, Developmental
  • Genes, Developmental/physiology
  • Genetic Diseases, Inborn/ genetics
  • Genetic Predisposition to Disease
  • Genetic Variation/ physiology
  • Genome, Human
  • Humans
  • Models, Biological
Citation (ISO format)
CONRAD, Bernard, ANTONARAKIS, Stylianos. Gene duplication: a drive for phenotypic diversity and cause of human disease. In: Annual review of genomics and human genetics, 2007, vol. 8, p. 17–35. doi: 10.1146/annurev.genom.8.021307.110233
ISSN of the journal1527-8204

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