Tandem duplication polymorphism upstream of the dopamine D4 receptor gene (DRD4).
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. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 88:705-709, 1999.
Seaman
M I
MI
Department of Anthropology, Yale University, New Haven, Connecticut 06520-8005, USA.
Fisher
J B
JB
Chang
F
F
Kidd
K K
KK
D000483:Alleles; D000818:Animals; D018387:Codon, Initiator / Q000235:genetics; D016384:Consensus Sequence / Q000235:genetics; D016208:Databases, Factual; D019143:Evolution, Molecular; D005787:Gene Frequency / Q000235:genetics; D014644:Genetic Variation / Q000235:genetics; D006071:Gorilla gorilla / Q000235:genetics; D006801:Humans; D002679:Pan troglodytes / Q000235:genetics; D011110:Polymorphism, Genetic / Q000235:genetics*; D011148:Pongo pygmaeus / Q000235:genetics; D017448:Receptors, Dopamine D2 / Q000235:genetics*; D050638:Receptors, Dopamine D4; D020218:Response Elements / Q000235:genetics; D012689:Sequence Homology, Nucleic Acid; D020080:Tandem Repeat Sequences / Q000235:genetics*; D014157:Transcription Factors / Q000502:physiology
D018387:Codon, Initiator; C493599:DRD4 protein, human; D017448:Receptors, Dopamine D2; D014157:Transcription Factors; D050638:Receptors, Dopamine D4