The serotonin transporter intronic VNTR enhancer correlated with a predisposition to affective disorders has distinct regulatory elements within the domain based on the primary DNA sequence of the repeat unit

Autor:	E A, Lovejoy, A C, Scott, C E, Fiskerstrand, V J, Bubb, J P, Quinn
Rok vydání:	2003
Předmět:	Serotonin Plasma Membrane Transport Proteins Membrane Glycoproteins Polymorphism Genetic Mood Disorders Genetic Vectors Gene Dosage Membrane Transport Proteins Nerve Tissue Proteins Minisatellite Repeats Transfection Introns Mice Enhancer Elements Genetic Gene Expression Regulation Genes Reporter Genes Regulator Tumor Cells Cultured Animals Humans Genetic Predisposition to Disease Choriocarcinoma Carrier Proteins
Zdroj:	The European journal of neuroscience. 17(2)
ISSN:	0953-816X
Popis:	We have demonstrated that a variable number tandem repeat domain (VNTR) within intron 2 of the serotonin transporter gene is a transcriptional regulatory domain which is potentially correlated with a predisposition to affective disorders and other behavioural conditions. This correlation based on copy number of the VNTR alone (nine, 10 or 12 copies of 16/17 base-pair element) has been controversial and not reproduced in all studies. We demonstrate that individual repeat elements within the VNTR domain differ in their enhancer activity in an embryonic stem cell model. This has implications for both the mechanism by which these VNTRs are correlated with the progression of the disease and suggests that clinical analysis should now be extended to correlate sequence variation within the VNTR with the disorder. The latter may resolve some of the conflicting data published to date.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::b3f77e69f2371e0f4828e3648124b1bc https://pubmed.ncbi.nlm.nih.gov/12542679 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
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