Twenty-one-base-pair insertion polymorphism creates an enhancer element and potentiates SLC6A1 GABA transporter promoter activity by Hirunsatit Rungnapa, George Elizabeth D, Lipska Barbara K, Elwafi Hani M, Sander Lisa, Yrigollen Carolyn M, Gelernter Joel, Grigorenko Elena L, Lappalainen Jaakko, Mane Shrikant, Nairn Angus C, Kleinman Joel E, Simen Arthur A in Pharmacogenetics and genomics (2009).

[PMID: 19077666] PubMed


Sodium-dependent and chloride-dependent gamma-aminobutyric acid (GABA) transporter 1 (SLC6A1) is the target of a number of drugs of clinical importance and is a major determinant of synaptic GABA concentrations. We resequenced the human SLC6A1 gene previously and discovered a novel 21 bp insertion in the predicted promoter region that creates a second tandem copy of the sequence. Here we sought to determine the functional relevance of this variation.

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