Gene duplication: a drive for phenotypic diversity and cause of human disease
|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||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|
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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. doi: 10.1146/annurev.genom.8.021307.110233 https://archive-ouverte.unige.ch/unige:9159|