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2017 ; 15
(1
): 78
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Dosage-sensitive genes in evolution and disease
#MMPMID28863777
Rice AM
; McLysaght A
BMC Biol
2017[Sep]; 15
(1
): 78
PMID28863777
show ga
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.