A polymorphic dinucleotide repeat in the human dopamine D5 receptor gene promoter.
Previously, we have reported the cloning and characterization of the 5'-flanking region of the human dopamine D5 receptor encoding gene (D5) and that the major transactivation domain was 119-182 bp upstream of the transcriptional start site [Beischlag, T.V. et al., Biochemistry, 34 (1995) 5960-5970]. Within this region existed a small dinucleotide repeat termed (TC)13. In this report, we describe the screening of genomic DNAs from 18 unrelated individuals by single-strand conformation polymorphism (SSCP) analysis. SSCP analysis revealed the existence of two additional alleles, termed (TC)12 and (TC)14. Neither form significantly altered D5 promoter-mediated luciferase activity when compared to that of the wild-type control, suggesting that small differences in the number of dinucleotide repeats are not likely of any functional consequence for D5 transactivation.
Beischlag
T V
TV
Department of Pharmacology, University of Toronto, Ontario, Canada.
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Ulpian
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Seeman
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Niznik
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HB
D001483:Base Sequence; D006801:Humans; D006816:Huntington Disease / Q000235:genetics; D018895:Microsatellite Repeats; D008969:Molecular Sequence Data; D010300:Parkinson Disease / Q000235:genetics; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D011401:Promoter Regions, Genetic / Q000235:genetics*; D017447:Receptors, Dopamine D1 / Q000235:genetics*; D050641:Receptors, Dopamine D5; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics*; D012559:Schizophrenia / Q000235:genetics; D017422:Sequence Analysis, DNA
C493605:DRD5 protein, human; D017447:Receptors, Dopamine D1; D050641:Receptors, Dopamine D5