articleHuman Molecular GeneticsFeb 1, 2003Closed access

Synonymous mutations in the human dopamine receptor D2 (DRD2) affect mRNA stability and synthesis of the receptor

University of Chicago

PubMed
Indexed incrossrefpubmed

Abstract

Although changes in nucleotide sequence affecting the composition and the structure of proteins are well known, functional changes resulting from nucleotide substitutions cannot always be inferred from simple analysis of DNA sequence. Because a strong synonymous codon usage bias in the human DRD2 gene, suggesting selection on synonymous positions, was revealed by the relative independence of the G+C content of the third codon positions from the isochoric G+C frequencies, we chose to investigate functional effects of the six known naturally occurring synonymous changes (C132T, G423A, T765C, C939T, C957T, and G1101A) in the human DRD2. We report here that some synonymous mutations in the human DRD2 have…

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Authors

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Topics & keywords

Keywords
  • Biology
  • Genetics
  • Synonymous substitution
  • Silent mutation
  • Population
  • Linkage disequilibrium
  • Mutation
  • Pseudogene
UN Sustainable Development Goals
  • Good health and well-being
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