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Cited by 423

The DOI matches its Crossref record; 51 of the 51 references it cites were found in a registry or an index.

Polymorphisms in human dopamine D2 receptor gene affect gene expression, splicing, and neuronal activity during working memory

Open access
Zhang, Ying, Bertolino, Alessandro, Fazio, Leonardo, Blasi, Giuseppe, Rampino, Antonio, Romano, Raffaella, Lee, Mei-Ling T., Xiao, Tao, Papp, Audrey, Wang, Danxin, Sadée, Wolfgang·2007·Proceedings of the National Academy of Sciences

Abstract

Subcortical dopamine D2 receptor (DRD2) signaling is implicated in cognitive processes and brain disorders, but the effect of DRD2 variants remains ambiguous. We measured allelic mRNA expression in postmortem human striatum and prefrontal cortex and then performed single nucleotide polymorphism (SNP) scans of the DRD2 locus. A previously uncharacterized promoter SNP (rs12364283) located in a conserved suppressor region was associated with enhanced DRD2 expression, whereas previously studied DRD2 variants failed to affect expression. Moreover, two frequent intronic SNPs (rs2283265 and rs1076560) decreased expression of DRD2 short splice variant (expressed mainly presynaptically) relative to DRD2 long (postsynaptic), a finding reproduced in vitro by using minigene constructs. Being in strong linkage disequilibrium with each other, both intronic SNPs (but not rs12364283) were also associated with greater activity of striatum and prefrontal cortex measured with fMRI during working memory and with reduced performance in working memory and attentional control tasks in healthy humans. Our results identify regulatory DRD2 polymorphisms that modify mRNA expression and splicing and working memory pathways.

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Metadata

Authors
Zhang, Y., Bertolino, A., Fazio, L., Blasi, G., Rampino, A., Romano, R., Lee, M.-L. T., Xiao, T., Papp, A., Wang, D., & Sadée, W.
Venue
Proceedings of the National Academy of Sciences
Published
2007-12-18
Volume
104
Issue
51
Pages
20552-20557
ISSN
  • 0027-8424 (ISSN-L)
  • 1091-6490
OpenAlex
W2141878312
Cited by
423
References
51
FWCI
9.43
Type
journal article
Language
en
Open access
bronze

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CoChat. (2026). Citation check: Polymorphisms in human dopamine D2 receptor gene affect gene expression, splicing, and neuronal activity during working memory. https://app.cochat.ai/papers/10.1073/pnas.0707106104
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Zhang, Y., Bertolino, A., Fazio, L., Blasi, G., Rampino, A., Romano, R., Lee, M.-L. T., Xiao, T., Papp, A., Wang, D., & Sadée, W. (2007). Polymorphisms in human dopamine D2 receptor gene affect gene expression, splicing, and neuronal activity during working memory. Proceedings of the National Academy of Sciences. https://doi.org/10.1073/pnas.0707106104

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