Polymorphism in the second intron of dopamine receptor D4 gene in humans and apes

Makoto K. Shimada, Miho Inoue-Murayama, Yuko Ueda, Masami Maejima, Yuichi Murayama, Osamu Takenaka, Ikuo Hayasaka, Shin'ichi Ito

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12 Citations (Scopus)


The dopamine receptor D4 (DRD4) has received increasing research attention in behavioral science, psychiatry, and psychopharmacology. However, the number of available genetic markers for primates is still insufficient. We identified a novel variation/polymorphism in the second intron of DRD4 in humans based on the survey of 210 Japanese: a 6bp insertion (allele frequency: 0.002) and 8bp deletion (0.024); however, 94 Hungarian Caucasians were found to be monomorphic. Polymorphisms of the homologous region were also found in a survey of 93 specimens from four species of great apes and 51 specimens from seven species of gibbons. The polymorphisms consist of both single nucleotide substitutions and variations in the number of tandem duplications of short GC-rich sequences. Because of usefulness of primates in behavioral science, this polymorphism may be a useful marker for association studies with behavioral traits in both humans and apes.

Original languageEnglish
Pages (from-to)1186-1190
Number of pages5
JournalBiochemical and Biophysical Research Communications
Issue number4
Publication statusPublished - 16-04-2004
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Biophysics
  • Biochemistry
  • Molecular Biology
  • Cell Biology


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