Article
A "silent" polymorphism in the MDR1 gene changes substrate specificity.
Science (New York, N.Y.) - 26 Jan 2007
Kimchi-Sarfaty Chava, Oh Jung Mi, Kim In-Wha, Sauna Zuben E, Calcagno Anna Maria, Ambudkar Suresh V, Gottesman Michael M
Abstract excerpt
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...
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