title: Genetic variations of the MCT4 (SLC16A3) gene in the Chinese and Indian populations of Singapore.
abstract: MCT4 (SLC16A3) is the third member of the monocarboxylate transporter (MCT) family and is involved in the transportation of metabolically important monocarboxylates such as lactate, pyruvate, acetate and ketone bodies. This study aimed to identify genetic variations of the SLC16A3 gene that may be present in the ethnic Chinese (n = 95) and Indian (n = 96) groups of the Singaporean population. The genetic variations in the promoter, coding region and exon-intron junctions of the SLC16A3 gene encoding the MCT4 transporter were screened by DNA sequencing. A total of 46 genetic variants were detected in the SLC16A3 gene, of which 33 are novel. Of these variants, 22 are located in the promoter regions, 2 in the 5' untranslated region (UTR), 10 in the coding exons (5 nonsynonymous and 5 synonymous variations), 6 in 3'UTR and 6 in the intron. Of the 5 nonsynonymous variants, only 44C>T (Ala15Val) was predicted by PolyPhen and SIFT as having a potentially damaging effect on protein function, whereas 55G>A (Gly19Ser), 574G>A (Val192Met) and 916G>A (Gly306Ser) had conflicting results between the SIFT and PolyPhen algorithms. Finally, 641C>T (Ser214Phe) was predicted to be a tolerated variant.
authors.affiliation: Department of Pharmacology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore.
authors.forename: Choo Bee
authors.initials: CB
authors.lastname: Lean
authors.forename: Edmund Jon Deoon
authors.initials: EJ
authors.lastname: Lee
mesh_terms: D020121:5' Untranslated Regions; D000465:Algorithms; D044466:Asian People / Q000235:genetics*; D002264:Carboxylic Acids / Q000378:metabolism; D016009:Chi-Square Distribution; D002681:China / Q000208:ethnology; D019295:Computational Biology; D005091:Exons; D005787:Gene Frequency; D006239:Haplotypes; D006801:Humans; D007194:India / Q000208:ethnology; D007438:Introns; D027501:Monocarboxylic Acid Transporters / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D011487:Protein Conformation; D012846:Singapore / Q000453:epidemiology; D013329:Structure-Activity Relationship; D027981:Symporters
chemical_list: D020121:5' Untranslated Regions; D002264:Carboxylic Acids; D027501:Monocarboxylic Acid Transporters; C106260:SLC16A3 protein, human; D027981:Symporters