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DRD5 (Dopamine receptor D5)
The D5 subtype dopamine receptor (DRD5) stimulates adenyl cyclase and is expressed in the neurons of the limbic region of the brain. Polymorphisms in DRD5 have been highly associated with attention deficit hyperactivity disorder (ADHD). Humans have approximately 5 more copies of DRD5 than any other primate, but the significance of this change is not understood.
Sudmant PH, Kitzman JO, Antonacci F, Alkan C, Malig M, Tsalenko A, Sampas N, Bruhn L, Shendure J; 1000 Genomes Project, Eichler EE. Diversity of human copy number variation and multicopy genes. Science. 2010 Oct 29;330(6004):641-6. PMID:21030649
Armengol G, Knuutila S, Lozano JJ, Madrigal I, Caballín MR. (2010) Identification of human specific gene duplications relative to other primates by array CGH and quantitative PCR. Genomics 95(4):203-9. PMID:20153417
Kuroiwa M, Oneyama C, Nada S, Okada M. The guanine nucleotide exchange factor Arhgef5 plays crucial roles in Src-induced podosome formation. J Cell Sci. 2011 May 15;124(Pt 10):1726-38. PMID: 21525037
Fortna A, Kim Y, MacLaren E, Marshall K, Hahn G, Meltesen L, Brenton M, Hink R, Burgers S, Hernandez-Boussard T, Karimpour-Fard A, Glueck D, McGavran L, Berry R, Pollack J, Sikela JM. (2004) Lineage-specific gene duplication and loss in human and great ape evolution. PLoS Biol 2(7):E207. PMID: 15252450

