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
Full text not available from this repository. (Request a copy)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) |
|---|---|
Division/Institute: |
04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine |
UniBE Contributor: |
Conrad, Bernard |
ISSN: |
1527-8204 |
ISBN: |
17386002 |
Publisher: |
Annual Reviews Inc. |
Language: |
English |
Submitter: |
Anette van Dorland |
Date Deposited: |
04 Oct 2013 14:55 |
Last Modified: |
05 Dec 2022 14:17 |
Publisher DOI: |
10.1146/annurev.genom.8.021307.110233 |
PubMed ID: |
17386002 |
Web of Science ID: |
000250233200002 |
URI: |
https://boris.unibe.ch/id/eprint/23405 (FactScience: 41729) |
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