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Dosage-sensitive genes in evolution and disease

Rice, Alan M ; McLysaght, Aoife

BMC biology, 2017-09, Vol.15 (1), p.78-78, Article 78 [Periódico revisado por pares]

England: BioMed Central

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Título:
Dosage-sensitive genes in evolution and disease
Autor: Rice, Alan M ; McLysaght, Aoife
Assuntos: 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
É parte de: BMC biology, 2017-09, Vol.15 (1), p.78-78, Article 78
Notas: ObjectType-Article-2
SourceType-Scholarly Journals-1
ObjectType-Feature-3
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ObjectType-Review-1
Descrição: 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.
Editor: England: BioMed Central
Idioma: Inglês

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Dosage-sensitive genes in evolution and disease

Rice, Alan M ; McLysaght, Aoife

England: BioMed Central

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