Cytochrome P450 2D6 (CYP2D6) Sequencing Project

Cytochrome P450 2D6 (CYP2D6), a member of the cytochrome P450 mixed-function oxidase system, is one of the most important enzymes involved in the metabolism of xenobiotics in the body. Many substances are bioactivated by CYP2D6 to form their active compounds. While CYP2D6 is involved in the oxidation of a wide range of substrates of all the CYPs, there is considerable variability in its expression in the liver. The gene is located near two cytochrome P450 pseudogenes on chromosome 22q13.1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Our mission is to use gold-standard DNA sequencing techniques to finish.fosmid and BAC.clones containing human genome sequences that span several cytochrome loci to high quality, defining SNPs and structural variation in ethnically diverse individuals. These finished sequences provide the foundational knowledge required to interpret CYP2D6..haplotypes at selected loci and to begin investigating the distribution of allele frequency and copy number.variation.of these loci in pharmacogenomic studies.