Genetic variations of the SLC22A4 gene in Chinese and Indian populations of Singapore.
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.
Toh
Dorothy Su Lin
DS
Department of Pharmacology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore.
Koo
Seok Hwee
SH
Limenta
Lie Michael George
LM
Yee
Jie Yin
JY
Murray
Michael
M
Lee
Edmund Jon Deoon
EJ
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
D027701:Organic Cation Transport Proteins; C109807:SLC22A4 protein, human; D027981:Symporters