Evidence of positive selection acting at the human dopamine receptor D4 gene locus
文献类型：期刊论文
| 作者 | Ding YC1,2; Chi HC1; Grady DL1; Morishima A3; Kidd JR3; Kidd KK3; Flodman P4; Spence MA4; Schuck S5; Swanson JM5 |
| 刊名 | PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
 |
| 出版日期 | 2002 |
| 卷号 | 99期号:1页码:309-314 |
| ISSN号 | 0027-8424 |
| 通讯作者 | rmoyzis@uci.edu |
| 合作状况 | 其它 |
| 英文摘要 | Associations have been reported of the seven-repeat (7R) allele of the human dopamine receptor D4 (DRD4) gene with both attention-deficit/hyperactivity disorder and the personality trait of novelty seeking. This polymorphism occurs in a 48-bp tandem repeat in the coding region of DRD4, with the most common allele containing four repeats (4R) and rarer variants containing 2-11. Here we show by DNA resequencing/haplotyping of 600 DRD4 alleles, representing a worldwide population sample, that the origin of 2R-6R alleles can be explained by simple one-step recombination/mutation events. In contrast, the 7R allele is not simply related to the other common alleles, differing by greater than six recombinations/mutations. Strong linkage disequilibrium was found between the 7R allele and surrounding DRD4 polymorphisms, suggesting that this allele is at least 5-10-fold "younger" than the common 4R allele. Based on an observed bias toward nonsynonymous amino acid changes, the unusual DNA sequence organization, and the strong linkage disequilibrium surrounding the DRD4 7R allele, we propose that this allele originated as a rare mutational event that nevertheless increased to high frequency in human populations by positive selection. |
| 收录类别 | SCI |
| 资助信息 | This work was supported by Department of Energy Grant DE-FG03- 97ER62485 and National Institute of Mental Health Grant MH60660 (to R.K.M.). |
| 原文出处 | 200299309.pdf |
| 语种 | 英语 |
| 公开日期 | 2010-08-24 |
| 源URL | [http://159.226.149.42:8088/handle/152453/4071]  |
| 专题 | 昆明动物研究所_分子进化基因组学 昆明动物研究所_细胞与分子进化开放实验室 |
| 作者单位 | 1.Department of Biological Chemistry, College of Medicine, University of California, Irvine, CA 92697 2.Laboratory of Cellular and Molecular Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming 650223, China 3.Department of Genetics, School of Medicine, Yale University, New Haven, CT 06520 4.Department of Pediatrics, Medical Center, University of California, Orange, CA 92868 5.Child Development Center, University of California, Irvine, CA 92715 |
| 推荐引用方式 GB/T 7714 | Ding YC,Chi HC,Grady DL,et al. Evidence of positive selection acting at the human dopamine receptor D4 gene locus[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA,2002,99(1):309-314. |
| APA | Ding YC.,Chi HC.,Grady DL.,Morishima A.,Kidd JR.,...&Moyzis RK[*].(2002).Evidence of positive selection acting at the human dopamine receptor D4 gene locus.PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA,99(1),309-314. |
| MLA | Ding YC,et al."Evidence of positive selection acting at the human dopamine receptor D4 gene locus".PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA 99.1(2002):309-314. |
入库方式： OAI收割
来源：昆明动物研究所
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