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| EVOLUTION OF HAPLOTYPES AT THE DRD2 LOCUS |
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| Author(s): CASTIGLIONE CM, DEINARD AS, SPEED WC, SIRUGO G, ROSENBAUM HC, ZHANG Y, GRANDY DK, GRIGORENKO EL, BONNETAMIR B, PAKSTIS AJ, KIDD JR, KIDD KK |
| Source: AMERICAN JOURNAL OF HUMAN GENETICS Volume: 57 Issue: 6 Pages: 1445-1456 Published: DEC 1995 |
| Times Cited: 87 References: 48 |
| Abstract: We present here the first evolutionary perspective on haplotypes at DRD2, the locus for the dopamine D-2 receptor. The dopamine D-2 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. |
| Document Type: Article |
| Language: English |
Addresses:
1. YALE UNIV, SCH MED, DEPT GENET, NEW HAVEN, CT 06520 USA
2. YALE UNIV, SCH MED, DEPT BIOL, NEW HAVEN, CT 06520 USA
3. OREGON HLTH SCI UNIV, VOLLUM INST ADV BIOMED RES, PORTLAND, OR 97201 USA
4. OREGON HLTH SCI UNIV, DEPT CELL BIOL & ANAT, PORTLAND, OR 97201 USA
5. UNIV CALIF SAN FRANCISCO, DEPT ANAT, SAN FRANCISCO, CA 94143 USA
6. TEL AVIV UNIV, SACKLER FAC MED, IL-69978 TEL AVIV, ISRAEL |
| Publisher: UNIV CHICAGO PRESS, 5720 S WOODLAWN AVE, CHICAGO, IL 60637 |
| Subject Category: Genetics & Heredity |
| IDS Number: TE655 |
| ISSN: 0002-9297 |
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