A novel allelic variant of the human serotonin transporter gene regulatory polymorphism (original) (raw)
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1997
This article was originally published in
Cytogenetics and Cell Genetics
Research Articles| May 20 2008
aGenome Research, Max-Delbrück-Center for Molecular Medicine, Berlin (Germany);
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aGenome Research, Max-Delbrück-Center for Molecular Medicine, Berlin (Germany);
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aGenome Research, Max-Delbrück-Center for Molecular Medicine, Berlin (Germany);
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bDepartment of Psychiatry, Free University of Berlin, Berlin (Germany);
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cInstitute of Human Genetics and Anthropology, University of Freiburg, Freiburg (Germany);
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dFORENAP, Centre Hospitalier, Rouffach (France); and
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eDepartment of Psychiatry and Human Behavior, Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA (USA)
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aGenome Research, Max-Delbrück-Center for Molecular Medicine, Berlin (Germany);
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Cytogenetics and Cell Genetics (1997) 79 (3-4): 214–220.
Abstract
Allelic variation of the human serotonin transporter gene (SLC6A4) has recently been shown to modulate anxiety-related traits. A tandemly repeated sequence in close proximity to the promoter was found to be represented by a long (L) and short (S) variant, differentially modulating gene expression in vitro. Specifically, allele S, generated by a deletion of 44 bp involving repeats VI to VIII, reduced transcriptional efficiency, gene expression, and 5-hydroxytryptamine uptake and was associated with increased neuroticism scores. We have now identified a novel allelic variant of this promoter-linked polymorphism that is significantly larger than the L allele and which we have designated allele XL (for “extra large”). Sequence analysis revealed that XL arose through duplication of an internal segment composed of repeat elements VI to IX, comprising 85 bp in total, and, most notably, including the segments deleted in the S allele. Additional allelic variants larger than human allele L were observed predominantly in various nonhuman primates. Preliminary data indicated that these variable allelic extensions similarly originate from this specific repeat region. These allelic variants may serve as a valuable model system to further elucidate the relationship between repeat structure, regulatory properties, and behavioral correlates. Finally, allelic variants were found to vary significantly among different human populations, with allele XL being uniquely present in individuals of African origin, allele L most frequent in Africans and Caucasians of Western European descent, and allele S most abundant in East Asians.
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© 1997 S. Karger AG, Basel
1997
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