An intronic polymorphic domain often associated with susceptibility to affective disorders has allele dependent differential enhancer activity in embryonic stem cells

FEBS Letters

Quinn, J.P.¹  Fiskerstrand, C.E.¹  Lovejoy, E.A.¹ 

[1] Department of Veterinary Pathology, University of Edinburgh, Summerhall, Edinburgh EH9 1QH, UK

关键词: Serotonin transporter;    Affective disorder;    Enhancer;    Gene promoter;    VNTR polymorphism;    Embryo stem cell;    5-HTT;    Serotonin transporter;    Stin2;    Serotonin transporter intron 2;    VNTR;    variable number tandem repeat;    RA;    retinoic acid;    ES;    embryonic stem cells;   

DOI  :  10.1016/S0014-5793(99)01150-3

学科分类：生物化学/生物物理

来源: John Wiley & Sons Ltd.

【 摘 要 】

Variable number tandem repeats (VNTR) within non-coding regions of a number of genes have been correlated with susceptibility to various disease states. In particular, a VNTR polymorphism of a 16 or 17 bp element within intron 2 of the human serotonin transporter gene has been correlated with a predisposition to affective disorders. We have demonstrated that this region will support differential levels of reporter gene expression in differentiating embryonic stem cells, this being dependent on the presence of 10 or 12 copies of the repeat. The VNTR domain can therefore act as a transcriptional regulator, a property which potentially contributes to disease susceptibility.

【 授权许可】

Unknown