NDLI: American Journal of Medical Genetics (Neuropsychiatric Genetics) 88:705–709 (1999) Tandem Duplication Polymorphism Upstream of the Dopamine D4 Receptor Gene (DRD4)

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American Journal of Medical Genetics (Neuropsychiatric Genetics) 88:705–709 (1999) Tandem Duplication Polymorphism Upstream of the Dopamine D4 Receptor Gene (DRD4)

Content Provider	CiteSeerX
Author	Fisher, J. B. Chang, F. -M. Seaman, M. I. Kidd, K. K.
Abstract	The dopamine D4 receptor (DRD4) is a member of the D2-like dopamine receptor family. Polymorphisms at the DRD4 gene have been examined for association with a wide range of neuropsychiatric disorders and normal behavioral variation. The DRD4 gene is unusual in its high amount of expressed polymorphism in humans. Here we study the identification of a polymorphic tandem duplication of 120 bp located 1.2 kb upstream of the initiation codon. The duplicated region contains consensus sequences of binding sites for several known transcription factors, suggesting that different alleles may differ in their transcriptional activity. Because chimpanzees, gorillas, and orangutans lack the duplication, the duplicated allele is inferred to be derived. The frequency of this derived duplication allele ranges from 0.40–0.81 in the 11 populations from around the world typed for this polymorphism.
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Subject Keyword	Duplicated Allele Normal Behavioral Variation Dopamine D4 Receptor Gene Expressed Polymorphism Dopamine D4 Receptor Tandem Duplication Polymorphism Upstream American Journal High Amount Wide Range D2-like Dopamine Receptor Family Neuropsychiatric Genetics Initiation Codon Duplicated Region Contains Consensus Sequence Medical Genetics Polymorphic Tandem Duplication Duplication Allele Drd4 Gene Different Allele Kb Upstream Transcription Factor Transcriptional Activity Neuropsychiatric Disorder
Content Type	Text

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