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

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Published in Annual Review of Genomics and Human Genetics. 2007, vol. 8, p. 17-35
Abstract 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.
Keywords AnimalsDosage Compensation, Genetic/physiologyEvolution, MolecularGene Dosage/physiologyGene DuplicationGene Expression Regulation, DevelopmentalGenes, Developmental/physiologyGenetic Diseases, Inborn/ geneticsGenetic Predisposition to DiseaseGenetic Variation/ physiologyGenome, HumanHumansModels, Biological
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PMID: 17386002
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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. https://archive-ouverte.unige.ch/unige:9159

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Deposited on : 2010-07-12

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