Title |
Dosage-sensitive genes in evolution and disease
|
---|---|
Published in |
BMC Biology, September 2017
|
DOI | 10.1186/s12915-017-0418-y |
Pubmed ID | |
Authors |
Alan M. Rice, Aoife McLysaght |
Abstract |
For a subset of genes in our genome a change in gene dosage, by duplication or deletion, causes a phenotypic effect. These dosage-sensitive genes may confer an advantage upon copy number change, but more typically they are associated with disease, including heart disease, cancers and neuropsychiatric disorders. This gene copy number sensitivity creates characteristic evolutionary constraints that can serve as a diagnostic to identify dosage-sensitive genes. Though the link between copy number change and disease is well-established, the mechanism of pathogenicity is usually opaque. We propose that gene expression level may provide a common basis for the pathogenic effects of many copy number variants. |
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United Kingdom | 6 | 46% |
United States | 3 | 23% |
Portugal | 1 | 8% |
Ireland | 1 | 8% |
Unknown | 2 | 15% |
Demographic breakdown
Type | Count | As % |
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Scientists | 8 | 62% |
Members of the public | 4 | 31% |
Science communicators (journalists, bloggers, editors) | 1 | 8% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Unknown | 173 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Ph. D. Student | 41 | 24% |
Student > Bachelor | 27 | 16% |
Researcher | 23 | 13% |
Student > Master | 15 | 9% |
Student > Doctoral Student | 7 | 4% |
Other | 17 | 10% |
Unknown | 43 | 25% |
Readers by discipline | Count | As % |
---|---|---|
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Agricultural and Biological Sciences | 36 | 21% |
Medicine and Dentistry | 11 | 6% |
Neuroscience | 6 | 3% |
Nursing and Health Professions | 3 | 2% |
Other | 10 | 6% |
Unknown | 41 | 24% |