Dosage-sensitive genes in evolution and disease

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 neuropsychiatri...

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Published inBMC biology Vol. 15; no. 1; p. 78
Main Authors Rice, Alan M, McLysaght, Aoife
Format Journal Article
LanguageEnglish
Published England BioMed Central 01.09.2017
BMC
Subjects
Biological Evolution
Cell cycle
Cell division
Copy number
Coronary artery disease
Diagnostic systems
Disease
DNA Copy Number Variations
Dosage
E coli
Evolution, Molecular
Evolutionary genetics
Gene deletion
Gene Dosage
Gene expression
Genes
Genetic Diseases, Inborn - genetics
Genetics
Genome, Human
Genomes
Genomics
Heart diseases
Humans
Kinases
Mental disorders
Pathogenicity
Pathogens
Proteins
Ratios
Review
Trends
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Summary: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.
Bibliography:ObjectType-Article-2
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ObjectType-Review-1
ISSN:1741-7007
1741-7007
DOI:10.1186/s12915-017-0418-y