Evolution of haplotypes at the DRD2 locus

C. M. Castiglione, A. S. Deinard, W. C. Speed, G. Sirugo, H. C. Rosenbaum, Y. Zhang, D. K. Grandy, E. L. Grigorenko, B. Bonne-Tamir, A. J. Pakstis, J. R. Kidd, K. K. Kidd

    Research output: Contribution to journalArticlepeer-review

    108 Scopus citations


    We present here the first evolutionary perspective on haplotypes at DRD2, the locus for the dopamine D2 receptor. The dopamine D2 receptor plays a critical role in the functioning of many neural circuits in the human brain. If functionally relevant variation at the DRD2 locus exists, understanding the evolution of haplotypes on the basis of polymorphic sites encompassing the gene should provide a powerful framework for identifying that variation. Three DRD2 polymorphisms (TaqI 'A' and 'B' RFLPs and the (CA)(n) short tandem repeat polymorphism) encompassing the coding sequences have been studied in 15 populations; these markers are polymorphic in all the populations studied, and they display strong and significant linkage disequilibria with each other. The common haplotypes for the two TaqI RFLPs are separately derived from the ancestral haplotype but predate the spread of modern humans around the world. The knowledge of how the various haplotypes have evolved, the allele frequencies of the haplotypes in human populations, and the physical relationships of the polymorphisms to each other and to the functional parts of the gene should now allow proper design and interpretation of association studies.

    Original languageEnglish (US)
    Pages (from-to)1445-1456
    Number of pages12
    JournalAmerican Journal of Human Genetics
    Issue number6
    StatePublished - 1995

    ASJC Scopus subject areas

    • Genetics
    • Genetics(clinical)


    Dive into the research topics of 'Evolution of haplotypes at the DRD2 locus'. Together they form a unique fingerprint.

    Cite this