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Dosage-sensitive genes in evolution and disease

Overview of attention for article published in BMC Biology, September 2017
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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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The data shown below were collected from the profiles of 13 X users who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 177 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 177 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 41 23%
Student > Bachelor 28 16%
Researcher 23 13%
Student > Master 15 8%
Student > Doctoral Student 7 4%
Other 19 11%
Unknown 44 25%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 67 38%
Agricultural and Biological Sciences 38 21%
Medicine and Dentistry 11 6%
Neuroscience 6 3%
Nursing and Health Professions 3 2%
Other 10 6%
Unknown 42 24%