The updated dope on the mismapped mutation in the dopamine D2 receptor

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Sandra Porter
A few weeks ago, I wrote about a paper in Science(1) that I read on a connection between a mutation in the dopamine D2 receptor and the genetics of learning. Only, it turned out that when I looked at the gene map... the mutation mapped in a completely different gene. I presented the data here and wrote a bit about my surprise at finding this mistake and even greater surprise at seeing this same mistake perpetuated by others. Now, I have some updates to the story.
  1. The folks at the NCBI responded quickly and added annotations to both the DRD2 and the ANKK1 citations in the Gene database. Now, if you do your homework and at least glance at the Gene database, you will know, in no uncertain terms, that the TaqI DRD2 SNP (rs1800497) maps in ANKK1. You couldn't miss this bit of information now if you tried.

  2. I saw a technical comment in the July 11th issue of Science, pointing out the mismapping and adding more detail (2). The authors (Michael Lucht1 and Dieter Rosskopf) point out that interpreting the data, with the correct map position in mind, could suggest an alternate explanation for the original findings. They wrote:
    Indeed, there is good evidence for the contribution of the dopaminergic system to learning processes, as shown in a recent study of Parkinson's patients on and off dopaminergic treatment (8). However, the idea that signaling components--as suggested for ANKK1 and TCC12--also contribute to neural function and, ultimately, to learning, is also plausible.
  3. The authors of the original paper (1) responded (3) to the critique with the suggestion that DRD2-TAQ-IA might look like a marker for dopamine receptor density because its tightly linked to SNPs that do map in the DRD2 receptor (At least this my interpretation of what they wrote.)
  1. T. A. Klein, J. Neumann, M. Reuter, J. Hennig, D. Y. von Cramon, M. Ullsperger (2007). Genetically Determined Differences in Learning from Errors Science, 318 (5856), 1642-1645 DOI: 10.1126/science.1145044
  2. M. Lucht, D. Rosskopf (2008). Comment on "Genetically Determined Differences in Learning from Errors" Science, 321 (5886), 200-200 DOI: 10.1126/science.1155372
  3. T. A. Klein, M. Reuter, D. Y. von Cramon, M. Ullsperger (2008). Response to Comment on "Genetically Determined Differences in Learning from Errors" Science, 321 (5886), 200-200 DOI: 10.1126/science.1156079]

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