A "Silent" Polymorphism in the MDR1 Gene Changes Substrate Specificity

  title={A "Silent" Polymorphism in the MDR1 Gene Changes Substrate Specificity},
  author={Chava Kimchi-Sarfaty and Jung Mi Oh and In-Wha Kim and Zuben E. Sauna and Anna Maria Calcagno and Suresh V. Ambudkar and Michael M. Gottesman},
  pages={525 - 528}
Synonymous single-nucleotide polymorphisms (SNPs) do not produce altered coding sequences, and therefore they are not expected to change the function of the protein in which they occur. We report that a synonymous SNP in the Multidrug Resistance 1 (MDR1) gene, part of a haplotype previously linked to altered function of the MDR1 gene product P-glycoprotein (P-gp), nonetheless results in P-gp with altered drug and inhibitor interactions. Similar mRNA and protein levels, but altered conformations… 

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