title: Genetic variations of the SLC22A4 gene in Chinese and Indian populations of Singapore.
abstract: The novel organic cation transporter 1 (OCTN1) is a multispecific, bidirectional and pH-dependent organic cation transporter with low carnitine transport activity. It is a transporter of the physiological substance ergothioneine and mediates the transport of a variety of organic cations such as tetraethylammonium, pyrilamine and quinidine. This study identifies genetic variations of the SLC22A4 gene in two distinct ethnic groups of the Singaporean population (n=192) by DNA sequencing. Twenty four genetic variants of SLC22A4, including 14 found to be novel. 16 in the coding exons (10 nonsynonymous and 6 synonymous variations) and 8 in the introns. Among the novel nonsynonymous variations, Arg63His, Arg83Pro, Met344Lys and Ile500Asn were predicted to be functionally significant. These data should provide fundamental and useful information for pharmacogenetic studies on drugs that are substrates of OCTN1 in Asians.
authors.affiliation: Department of Pharmacology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore.
authors.forename: Dorothy Su Lin
authors.initials: DS
authors.lastname: Toh
authors.forename: Seok Hwee
authors.initials: SH
authors.lastname: Koo
authors.forename: Lie Michael George
authors.initials: LM
authors.lastname: Limenta
authors.forename: Jie Yin
authors.initials: JY
authors.lastname: Yee
authors.forename: Michael
authors.initials: M
authors.lastname: Murray
authors.forename: Edmund Jon Deoon
authors.initials: EJ
authors.lastname: Lee
mesh_terms: D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D005006:Ethnicity / Q000235:genetics*; D014644:Genetic Variation; D006801:Humans; D027701:Organic Cation Transport Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D012846:Singapore; D027981:Symporters
chemical_list: D027701:Organic Cation Transport Proteins; C109807:SLC22A4 protein, human; D027981:Symporters