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Cited by 498

The DOI matches its Crossref record; 4 of the 4 references it cites were found in a registry or an index.

Evidence of positive selection acting at the human dopamine receptor D4 gene locus

Open access
Ding, Yuan-Chun, Chi, Han-Chang, Grady, Deborah L., Morishima, Atsuyuki, Kidd, Judith R., Kidd, Kenneth K., Flodman, Pamela, Spence, M. Anne, Schuck, Sabrina, Swanson, James M., Zhang, Ya-Ping, Moyzis, Robert K.·2002·Proceedings of the National Academy of Sciences
DOI 10.1073/pnas.012464099
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Abstract

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.

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Metadata

Authors
Ding, Y.-C., Chi, H.-C., Grady, D. L., Morishima, A., Kidd, J. R., Kidd, K. K., Flodman, P., Spence, M. A., Schuck, S., Swanson, J. M., Zhang, Y.-P., & Moyzis, R. K.
Venue
Proceedings of the National Academy of Sciences
Publisher
Proceedings of the National Academy of Sciences
Published
2001-12-26
Volume
99
Issue
1
Pages
309-314
ISSN
  • 0027-8424 (ISSN-L)
  • 1091-6490
DOI
10.1073/pnas.012464099
OpenAlex
W2168722817
Cited by
498
References
4
FWCI
5.80
Type
journal article
Language
en
Open access
bronze

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