TY - JOUR
T1 - Tandem duplication polymorphism upstream of the dopamine D4 receptor gene (DRD4)
AU - Seaman, M. I.
AU - Fisher, J. B.
AU - Chang, F. M.
AU - Kidd, Kenneth K.
PY - 1999/12/15
Y1 - 1999/12/15
N2 - 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.
AB - 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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U2 - 10.1002/(SICI)1096-8628(19991215)88:6<705::AID-AJMG22>3.0.CO;2-F
DO - 10.1002/(SICI)1096-8628(19991215)88:6<705::AID-AJMG22>3.0.CO;2-F
M3 - Article
C2 - 10581493
AN - SCOPUS:0033573226
SN - 1552-4841
VL - 88
SP - 705
EP - 709
JO - American Journal of Medical Genetics - Neuropsychiatric Genetics
JF - American Journal of Medical Genetics - Neuropsychiatric Genetics
IS - 6
ER -