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10.1186/s12915-017-0418-y

http://scihub22266oqcxt.onion/10.1186/s12915-017-0418-y
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C5580218!5580218 !28863777
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suck abstract from ncbi


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pmid28863777
      BMC+Biol 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.
  • |*DNA Copy Number Variations [MESH]
  • |*Evolution, Molecular [MESH]
  • |*Gene Dosage [MESH]
  • |*Genome, Human [MESH]
  • |Biological Evolution [MESH]
  • |Genetic Diseases, Inborn/*genetics [MESH]


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