Catalog of 258 single-nucleotide polymorphisms (SNPs) in genes encoding three organic anion transporters, three organic anion-transporting polypeptides, and three NADH:ubiquinone oxidoreductase flavoproteins

J Hum Genet. 2001;46(11):668-83. doi: 10.1007/s100380170019.

Abstract

We present here a series of high-density maps of single-nucleotide polymorphisms (SNPs) detected in genes encoding three organic-anion transporters, three organic anion-transporting polypeptides, and three nicotinamide adenine dinucleotide, reduced:ubiquinone oxidoreductase flavoproteins. A total of 258 SNPs were identified among these nine genes through systematic screening of DNA from 48 Japanese individuals: 17 in 5' flanking regions, three in 5' untranslated regions, 13 in coding regions, 211 in introns, six in 3' untranslated regions, and 8 in 3' flanking regions. By comparing our data with SNPs deposited in the dbSNP database in the National Center for Biotechnology Information, we determined that 236 (91.5%) were novel. In addition, 46 genetic variations of other types were discovered within these loci. These high-resolution maps will serve as a useful resource for analyzing potential associations between variations in these nine genes and differences in human susceptibilities to common diseases or response to drug therapies.

MeSH terms

  • Chromosome Mapping
  • DNA / blood
  • DNA / isolation & purification
  • Electron Transport Complex I
  • European Continental Ancestry Group / genetics
  • Exons
  • Flavoproteins / genetics
  • Humans
  • Japan
  • Liver-Specific Organic Anion Transporter 1 / genetics*
  • Multigene Family
  • NADH, NADPH Oxidoreductases / genetics*
  • Organic Anion Transporters / genetics*
  • Organic Anion Transporters, Sodium-Independent*
  • Polymorphism, Single Nucleotide / genetics*

Substances

  • Flavoproteins
  • Liver-Specific Organic Anion Transporter 1
  • Organic Anion Transporters
  • Organic Anion Transporters, Sodium-Independent
  • SLC22A10 protein, human
  • SLC22A11 protein, human
  • DNA
  • NADH, NADPH Oxidoreductases
  • Electron Transport Complex I