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

被引：216

作者：

Fiskerstrand, CE ^{[1
]}

Lovejoy, EA ^{[1
]}

Quinn, JP ^{[1
]}

机构：

[1] Univ Edinburgh, Dept Vet Pathol, Edinburgh EH9 1QH, Midlothian, Scotland

来源：

FEBS LETTERS | 1999年 / 458卷 / 02期

关键词：

serotonin transporter; affective disorder; enhancer; gene promoter; VNTR polymorphism; embryo stem cell;

D O I：

10.1016/S0014-5793(99)01150-3

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Variable number tandem repeats (VNTR) within noncoding 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. (C) 1999 Federation of European Biochemical Societies.

引用

页码：171 / 174

页数：4

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