title: Polymorphism in the second intron of dopamine receptor D4 gene in humans and apes.
abstract: 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.
authors.affiliation: Faculty of Agriculture, Gifu University, Gifu 501-1193, Japan.
authors.forename: Makoto K
authors.initials: MK
authors.lastname: Shimada
authors.forename: Miho
authors.initials: M
authors.lastname: Inoue-Murayama
authors.forename: Yuko
authors.initials: Y
authors.lastname: Ueda
authors.forename: Masami
authors.initials: M
authors.lastname: Maejima
authors.forename: Yuichi
authors.initials: Y
authors.lastname: Murayama
authors.forename: Osamu
authors.initials: O
authors.lastname: Takenaka
authors.forename: Ikuo
authors.initials: I
authors.lastname: Hayasaka
authors.forename: Shin'ichi
authors.initials: S
authors.lastname: Ito
mesh_terms: D000818:Animals; D044466:Asian People; D005787:Gene Frequency; D014644:Genetic Variation / Q000235:genetics*; D015186:Hominidae; D006801:Humans; D007438:Introns / Q000235:genetics*; D011110:Polymorphism, Genetic; D017448:Receptors, Dopamine D2 / Q000235:genetics*; D050638:Receptors, Dopamine D4; D016415:Sequence Alignment; D012689:Sequence Homology, Nucleic Acid; D013045:Species Specificity; D044465:White People
chemical_list: C493599:DRD4 protein, human; D017448:Receptors, Dopamine D2; D050638:Receptors, Dopamine D4