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

Conrad, Bernard; Antonarakis, Stylianos E (2007). Gene duplication: a drive for phenotypic diversity and cause of human disease. Annual review of genomics and human genetics, 8, pp. 17-35. Palo Alto, Calif.: Annual Reviews Inc. 10.1146/annurev.genom.8.021307.110233

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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.

Item Type:

Journal Article (Further Contribution)


04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine

UniBE Contributor:

Conrad, Bernard






Annual Reviews Inc.




Anette van Dorland

Date Deposited:

04 Oct 2013 14:55

Last Modified:

05 Dec 2022 14:17

Publisher DOI:


PubMed ID:


Web of Science ID:


URI: (FactScience: 41729)

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