Identification and characterization of ANKK1: A novel kinase gene closely linked to DRD2 on chromosome band 11q23.1

By M. Neville, E. Johnstone, R. Walton. Human Mutation, 2004

629 citations recorded by the source corpus.

The dopamine D2 receptor has been extensively studied in relation to alcoholism, substance abuse, and nicotine dependence. The most frequently examined polymorphism linked to this gene is the Taq1A restriction fragment length polymorphism (RFLP) (dbSNP rs1800497; g.32806C>T in GenBank AF050737.1), which has been associated with a reduction in D2 receptor density, although this is not universally accepted. The Taq1A RFLP lies 10 kB downstream of DRD2 and may therefore fall within a different coding region than the DRD2 gene or within a regulatory region. Within this downstream region, we have identified a novel kinase gene, named ankyrin repeat and kinase domain containing 1 (ANKK1), which contains a single serine/threonine kinase domain and is expressed at low levels in placenta and whole spinal cord RNA. This gene is a member of an extensive family of proteins involved in signal transduction pathways. The DRD2 Taq1A RFLP is a single nucleotide polymorphism (SNP) that causes an amino acid substitution within the 11th ankyrin repeat of ANKK1 (p.Glu713Lys), which, while unlikely to affect structural integrity, may affect substrate‐binding specificity. If this is the case, then changes in ANKK1 activity may provide an alternative explanation for previously described associations between the DRD2 Taq1A RFLP and neuropsychiatric disorders such as addiction. Hum Mutat 23:540‐545, 2004. © 2004 Wiley‐Liss, Inc.

Subfields: Cellular and Molecular Neuroscience, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/8a490cac63941a7e19bbd9e6349b73e289dc1277

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Citations in the corpus

Genetic influences on impulsivity, risk taking, stress responsivity and vulnerability to drug abuse and addiction (2005, neutral): “Interestingly, the Taq1A variant is located approximately 10,000 nucleotides downstream (3′) from the DRD2 gene and has recently been reported to reside in the neighboring ANKK1 gene, which codes for a serine/threonine kinas”
Addiction-like reward dysfunction and compulsive eating in obese rats: Role for dopamine D2 receptors (2010, background): “The TaqIA allele also increases vulnerability to alcohol, opioid and psychomotor stimulant addictio”
Reward Mechanisms in Obesity: New Insights and Future Directions (2011, background): “The TaqIA restriction fragment length polymorphism is downstream from the D2R gene (Neville et al., 2004), and individuals carrying the A1 allele of the polymorphism have between 30%–40% fewer striatal D2Rs compared with those not carrying the allele (Jönsson et al., 1999; Ritchie and Noble, 2003;…”
Partisanship, Voting, and the Dopamine D2 Receptor Gene (2009, background): “The DRD2 gene is located on chromosome 11 and the Taq1 A polymorphism is located just beyond the DRD2 gene.6 This polymorphism has recently been discovered to be residing in the neighboring ANKK1 gene (Dubertret 2004; Neville, Johnstone, and Walton 2004).”