Combinatorial interaction between two human serotonin transporter gene variable number tandem repeats and their regulation by CTCF

Ali, Fahad R, Vasiliou, Sylvia A, Haddley, Kate, Paredes, Ursula M, Roberts, Julian C, Miyajima, Fabio, Klenova, Elena, Bubb, Vivien J ORCID: 0000-0003-2763-7004 and Quinn, John P ORCID: 0000-0003-3551-7803
(2010) Combinatorial interaction between two human serotonin transporter gene variable number tandem repeats and their regulation by CTCF. Journal of Neurochemistry, 112 (1). pp. 296-306.

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<jats:sec><jats:label /><jats:p> <jats:italic>J. Neurochem.</jats:italic> (2010) <jats:bold>112</jats:bold>, 296–306.</jats:p></jats:sec><jats:sec><jats:title>Abstract</jats:title><jats:p>Two distinct variable number tandem repeats (VNTRs) within the human serotonin transporter gene (<jats:italic>SLC6A4</jats:italic>) have been implicated as predisposing factors for CNS disorders. The linked polymorphic region in the 5′‐promoter exists as short (<jats:italic>s</jats:italic>) and long (<jats:italic>l</jats:italic>) alleles of a 22 or 23 bp elements. The second within intron 2 (Stin2) exists as three variants containing 9, 10 or 12 copies of a 16 or 17 bp element. These VNTRs, individually or in combination, supported differential reporter gene expression in rat neonate prefrontal cortical cultures. The level of reporter gene activity from the dual VNTR constructs indicated combinatorial action between the two domains. Chromatin immunoprecipitation demonstrated that both these VNTR domains can bind the CCCTC‐binding factor and this correlated with the ability of exogenously supplied CCCTC‐binding factor to modulate the expression supported by these reporter gene constructs. We suggest that the potential for interaction between multiple polymorphic domains should be incorporated into genetic association studies.</jats:p></jats:sec>

Item Type: Article
Additional Information: Ali, Fahad R Vasiliou, Sylvia A Haddley, Kate Paredes, Ursula M Roberts, Julian C Miyajima, Fabio Klenova, Elena Bubb, Vivien J Quinn, John P 074955/Z/04/Z/Wellcome Trust/United Kingdom BB/DO16754/9/Biotechnology and Biological Sciences Research Council/United Kingdom Comparative Study Research Support, Non-U.S. Gov't England Journal of neurochemistry J Neurochem. 2010 Jan;112(1):296-306. Epub 2009 Oct 26.## TULIP Type: Articles/Papers (Journal) ##
Uncontrolled Keywords: animals, base sequence, cell line, tumor, cells, cultured, combinatorial chemistry techniques, genetic variation, *physiology, humans, male, minisatellite repeats, *physiology, molecular sequence data, protein binding, physiology, rats, rats, wistar, repressor proteins, *metabolism, physiology, serotonin plasma membrane transport proteins, genetics, *metabolism
Depositing User: Symplectic Admin
Date Deposited: 22 Jul 2015 10:48
Last Modified: 31 Oct 2023 01:00
DOI: 10.1111/j.1471-4159.2009.06453.x
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